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Preface

Causes of Disruptions in Children’s Growth

Scientific Evidence

Advancements in technology, clinical research, and high speed information sharing have collectively facilitated the discovery of an unprecedented amount of information pertaining to the genetic causes of children’s growth failure, overgrowth or other growth irregularities.

Consequentially, scientists have been busy mapping out all of the millions of genetic details in discovery. During this process they have identified some diseases/syndromes which will be apparent in a child who displays all of the characteristics (“classic” form) of that syndrome. Other children may have the same syndrome but in a “partial” form. Also, there may be multiple varieties of the partial form. To make matters more complicated, some children have issues which are (non-syndromic) and may not yet have a “name”.

The variation of characteristics within each syndrome means that growth irregularities may be the result of a variety of mechanisms. Thankfully, this very complicated issue is somewhat simplified as many causes for disturbances in a child’s growth can now be identified and proven by genetic testing.

What does this increase in knowledge do for families and growth affected children?

Potentially, genetic explanations can afford physicians an opportunity to identify causes for growth failure or overgrowth at a much younger age. If treatments are available for the identified medical cause, initiating therapies as soon as possible could change the child’s future and health for his/her entire lifetime.

Changing Public Misconceptions

There are many assumptions surrounding children’s growth. It is generally believed that if we “wait and see” … a child who is small will eventually catch up to his/her peers. The opposite side of growth issues pertains to a child who is exceptionally tall for his/her age, particularly if the child is male. Parents and other caregivers often consider overgrowth as a “benefit” rather than a health warning.

As a major sign of health, a child’s growth pattern is NOT simply a cosmetic or appearance issue. Children’s growth should be checked annually and regarded with serious consideration. NO irregular growth (too much or too little) is safe for children if it is caused by a hidden medical issue.

ICOSEP is a coalition of patient organizations representing various “growth” conditions. Governments, medical societies and others have endorsed and supported ICOSEP and our educational initiative. We have one goal: to share a simple truth about children’s growth so that children throughout the country may be identified with enough time to intervene for their best lifetime of health.

Join us! Each year, on September 20th, we share one message via our annual Children’s Growth Awareness educational initiative. Materials are downloadable and free for this campaign use.

Visit: http://icosep.org and click the Growth Awareness Day tab for more details.

Table of Contents

Section 1

Alphabetized list of Medical Conditions Impacting Children’s Growth

Section 2

Itemized Summary Search Lists for:

Decreased Serum IGF-1 Associated Diseases

IGF-1 Diseases

Disproportionate Short Limb Associated Diseases

Disproportionate Short Stature Diseases

Disproportionate Short Trunk Short Stature

Dysplasia’s

Proportionate Short Stature Associated Diseases

Growth Hormone Deficiency

Growth Hormone Deficiency (Monarch search example)

Secondary Growth Hormone Deficiency

Pituitary Dwarfism Associated Diseases

Growth Hormone Excess

Precocious Puberty

Section 3

Cross-referenced Master List of Conditions with URL Information and Notes

Section 4

Alphabetized Resources

Legal Notice

Alphabetized List of Growth Impacting Diagnoses

Contains all syndrome/condition names (including AKA names from the detailed list in Section 3).

1

10q Duplication

2

10q Trisomy

3

12q Duplication

4

12q Trisomy

5

13q Deletions (various) Overview

6

14q Deletions Between 14q22 and 14q32

7

14q Deletions Proximal to 14q22

8

14q22q23 Microdeletion Syndrome

9

15q13.3 Microdeletion Syndrome

10

16p13.11 Microdeletion Syndrome

11

17p13.3 Microduplication Syndrome

12

17q Deletion

13

17q Monosomy

14

17q11 Microdeletion Syndrome

15

17q11.2 Microduplication Syndrome

16

18q Deletion Syndrome; Deletions from 18q11.2 to 18q21.2

17

19 XLMR

18

1p36 Deletion Syndrome

19

1q Duplication

20

1q Trisomy

21

1q21.1 Deletion Syndrome

22

1q21.1 Microdeletion

23

1q21.1 Microduplications

24

1q24q25 Microdeletion Syndrome

25

1q41-q42 Deletion Syndrome

26

1q41-q42 Microdeletion Syndrome

27

1-Spondylometaphyseal Dysplasia - Sutcliffe Type

28

20p12.3 Microdeletion Syndrome

29

21q Deletion Syndrome

30


31


32


33

2-Spondylometaphyseal Dysplasia Axial

34

3C Syndrome

35

3M Syndrome

36

3MC Syndrome

37

3-Methylglutaconic Aciduria Type II

38

3p Deletion

39

3p Duplication

40

3p Monosomy

41

3p- Syndrome

42

3p Trisomy

43

3q26.33‐3q28 Microdeletion

44

3-Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

45

4 H Syndrome

46

4p Deletion

47

4p Monosomy

48

4q Deletion Syndrome, Partial

49

4q Monosomy

50

4q28.1

51

5p Monosomy

52

5p Partial Monosomy Syndrome

53

5p Syndrome

54

5p13 Microduplication Syndrome

55

6-Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

56

8p Inverted Duplication/Deletion Syndrome

57

8p- Syndrome, Partial

58

8q Deletion

59

8q Monosomy

60


61

9p Partial Monosomy

62

9p13.3-p13.1 Interstitial Deletion

63

9q Deletion

64

9q Monosomy

65

Aarskog Syndrome

66

Aarskog-Like Syndrome

67

Aarskog–Scott Syndrome

68

Aase-Smith Syndrome II

69

Abetalipoproteinemia

70

Ablepharon Macrostomia Syndrome

71

Abnormal Facies, Mental Retardation, Ectomorphic Habitus

72

Abruzzo-Erickson Syndrome

73

Absence of Septum Pellucidum

74

Absence of Ulna and Fibula with Severe Limb Deficiency

75

Absent Thumb-Short Stature-Immunodeficienty Syndrome, TAR

76

Achalasia-Adrenal-Alacrima Syndrome

77

Achalasia-Microcephaly Syndrome

78

Achondrogenesis Type II

79

Achondroplasia

80

Achondroplasia and Severe Combined Immunodeficiency, Short-Limb Skeletal Dysplasia

with Severe Combined Immunodeficiency

81

Achondroplasia so-called and Severe Combined Immunodeficiency

82

Acquired GHD

83

Acquired Hypothyroidism

84

Acral Renal Ectodermal Dysplasia Lipoatrophic Diabetes

85

Acrocallosal Syndrome

86

Acrocallosal Syndrome, Schinzel Type

87

Acrocapitofemoral Dysplasia

88

Acrocephalopolysyndactyly, Type 4

89

Acrocephalo-Syndactyly Type 1

90

Acrocraniofacial Dysostosis

91

Acrodental Dysostosis of Weyers

92

Acrodysostosis

93

Acrodysplasia, Ossification Abnormalities, Short Stature, Fibular Hypoplasia

94

Acrofacial Dysostosis, Catania Type

95

Acrofacial Dysostosis, Cincinnati Type

96

Acrofacial Dysostosis, Rodriguez Type

97

Acro-Fronto-Facio-Nasal Dysostosis, Type 1

98

Acro-Fronto-Facio-Nasal Dysostosis, Type 2

99

Acromegaloid Features, Cutis Verticis Gyrata, Leukoma

100

Acromegaly

101

Acromesomelic Chondrodysplasia, Genital Anomalies

102

Acromesomelic Dwarfism, Ferraz Type

103

Acrometageria

104

Acromicric Dysplasia

105

Acro-Osteolysis

106

Acrorenal Field Defect, Ectodermal Dysplasia, and Lipoatrophic Diabetes

107

Acrorenal Mandibular Syndrome

108

Acro-Renal-Uterine-Mandibular Syndrome

109

ADA Deficiency

110

Adams-Oliver Syndrome

111

Adams-Oliver Syndrome 2

112

Adams-Oliver Syndrome 5

113

Adenosine Deaminase Deficiency

114

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

115

Adenylosuccinase Deficiency

116

ADMIO1

117

ADNP-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder

118

ADRA1B

119

Adrenal Hyperplasia I

120

ADRENAL HYPOPLASIA, CONGENITAL

121

Adrenal Hypoplasia, Gonadotrophin Deficiency, Deafness

122

ADSL Deficiency

123

AEXS

124

AFD Catania Type

125

AFFN Dysostosis 1 ( AFFND1)

126

AFFN Dysostosis 2 (AFFND2)

127

AGA Deficiency

128

Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked

129

AGL Deficiency

130

AHC

131

AHDC1 (gene Mutations)

132

Aicardi Goutieres Syndrome 4

133

Aicardi Syndrome

134

Al Awadi Rass Rothschild Syndrome

135

Al Gazali Khidr Prem Chandran Syndrome

136

Alagille Syndrome

137

Alaninuria, Microcephaly, Dwarfism, Diabetes

138

Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

139

Alazami Syndrome

140

Albright Hereditary Osteodystrophy

141

Albright Hereditary Osteodystrophy-Like Syndrome

142

Albright Hereditary Osteodystrophy-Like Syndrome, PRMT7 Mutations

143

Albright Syndrome

144

Aldoa Deficiency

145

Aldolase A Deficiency

146

Al-Gazali Syndrome

147

Alkuraya Syndrome

148

Alkydihydroxyacetonephosphate Synthase Deficiency

149

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

150

Alpers-Huttenlocher Syndrome (AHS)

151

Alpha Thalassaemia-Mental Retardation, X-Linked

152

Alpha Thalassemia X-Linked Intellectual Disability Syndrome

153

ALPHA-1B-ADRENERGIC RECEPTOR

154

Alpha-2-Deficient Collagen Disease

155

Al-Raqad Syndrome

156

Alstrom Syndrome

157

Alves Syndrome

158

Amaurosis Congenita of Leber 1

159

Amblyopia, Mental and Growth Retardation

160

Aminopterin/Methotrexate Embryofetopathy, Fetal Aminopterin Syndrome

161

Ampola Syndrome

162

Andersen Cardiodysrhythmic Periodic Paralysis

163

Andersen-Tawil Syndrome

164

Andre Syndrome

165

ANDROGEN RECEPTOR

166

Anemia, Congenital Dyserythropoietic, Type 1b

167

Anemia, Dyserythropoietic, Congenital Type 1

168

Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive

169

ANES

170

Angel Shaped Phalangoepiphyseal Dysplasia

171

Angelman-Like Syndrome

172

Angelman-Like Syndrome, X-Linked

173

Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome

174

Ankyloblepharon Filiforme Adnatum

175

Ankyloblepharon, Ectodermal Dysplasia, Clefting

176

Anodontia-Hypotrichosis Syndrome

177

Anophthalmia, Clinical, with Mild Facial Dysmorphism and Variable Malformations of the

Lung, Heart, and Diaphragm

178

Antenatal Bartter Syndrome Type 1

179

Anterior Chamber Cleavage Disorder, Short Stature, Mental Retardation

180

Antley-Bixler Syndrome

181

Apert Syndrome

182

Apert-Crouzon Disease

183

Aphalangia Partial with Syndactyly and Duplication of Metatarsal IV

184

Aplasia Cutis Congenita with Epibulbar Dermoids

185

Apparent Mineralocorticoid Excess

186

Apple Peel Intestinal Atresia

187

AR

188

Arachnodactyly, Contractural Beals Type

189

Aredyld Disease

190

Armfield X-Linked Mental Retardation Syndrome

191

AROMATASE DEFICIENCY

192

AROMATASE EXCESS SYNDROME

193

Arterial Calcification of Infancy

194

Arteriosclerosis, Severe Juvenile

195

Arthrogryposis

196

Arthrogryposis Multiplex Congenita-Whistling Face Syndrome

197

Arthrogryposis, Distal, Type 5d

198

Arthromyodysplasia, Dyscephaly, Sacral Agenesis, and Hypoplastic Digits

199

Arts Syndrome

200

Arylsulfatase E Deficiency

201

Aspartylglucosamidase (AGA) Deficiency

202

Asphyxiating Thoracic Dystrophy 4

203

Asphyxiating Thorasic Dystrophy 3

204

Asthma, Short Stature, and Elevated IGA

205

Astley-Kendall Dysplasia (syndrome)

206

Asymmetric Short Stature Syndrome

207

Ataxia, Mental Retardation, Short Stature, Yamagata Type

208

Ataxia, Ocular Telangiectasia, Chromosome Instability

209

Ataxia, Photosensitivity, Short Stature

210

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome

211

Atkin Syndrome

212

Atkin-Flaitz Syndrome

213

ATR-16 Syndrome

214

ATR-X Syndrome

215

Auriculoosteodsplasia

216

AUTISM

217

Autoimmune Disease, Multisystem, Infantile-Onset, 1

218

Autoimmune Polyendocrine Syndrome Type 1

219

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

220

Autosomal Dominant Cutis Laxa 3 (ADCL3)

221

Autosomal Dominant Hypophosphatemia

222

Autosomal Dominant Hypophosphatemic Rickets

223

Autosomal Dominant Spondyloepiphyseal Dysplasia, Sellick-Smithson Type

224

Autosomal Recessive Complex Spastic Paraplegia Type 9B

225

Autosomal Recessive Congenital Ichthyosis 4A

226

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

227

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

228

Autosomal Recessive Form of Cleidocranial Dysostosis

229

Autosomal Recessive Microcephaly, MFSD2A Gene Mutations

230

Autosomal Recessive Omodysplasia

231

Autosomal Recessive Osteopetrosis Type 2

232

Awadi/Ras-Rothschild

233

Axenfeld-Rieger Syndrome Type 1

234

Axenfield-Rieger Anomaly, Hydrocephalus, Leptomeningeal Calcification

235

Axial Spondylometaphyseal Dysplasia

236

Ayme-Gripp Syndrome

237

Bainbridge-Ropers Syndrome

238

Baller-Gerold Syndrome

239

Bangstad Syndrome

240

Bannayan-Zonana Syndrome, Ruvalcaba

241

Baraitser–Winter Cerebrofrontofacial Syndrome

242

Baraitser-Winter Syndrome 2

243

Barber-Say Syndrome

244

Barth Syndrome (Disease)

245

Bartter Syndrome

246

Bartter Syndrome, Type 1, Antenatal

247

Bartter Syndrome, Type 2, Antenatal

248

Basal Ganglia Calcification, Idiopathic, 1

249

Baxova Syndrome

250

Beals Auriculo-Osteo Dysplasia (syndrome)

251

Beals Syndrome

252

Beals-Hecht Syndrome

253

Beckwith-Wiedemann Syndrome

254

Bellini Syndrome

255

Bent Bone Dysplasia, FGFR2 Type

256

Berardinelli-Seip Syndrome

257

Berk-Tabatznik Syndrome

258

Berlin Syndrome

259

Berman Syndrome

260

Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification

261

Beta-Hexosaminidase-Beta-Subunit Deficiency

262

Beta-Thalassemia

263

Biemond Syndrome Il

264

Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic appearance

265

Bile Acid Synthesis Defect, Congenital, 5

266

Bilginturan Syndrome

267

Bindewald Ulmer Muller Syndrome

268

Bird-headed Dwarfism with Progressive Ataxia, Insulin-Resistant Diabetes, Goiter and

Primary Gonadal Insufficiency

269

Bird-Headed Dwarfism, Montreal Type

270

Bird-Headed Dwarfism, Seckel Type

271

Bixler-Christian-Gorlin Syndrome

272

Blepharofacioskeletal Syndrome

273

Blepharophimosis

274

Blepharophimosis with Ptosis, Syndactyly, and Short Stature

275

Blepharophimosis, Coloboma, Deafness, Polydactyly

276

Blepharophimosis, Deafness, Mental Retardation, Short Stature, Camptodactyly

277

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS

278

Blepharophimosis, Ptosis, Syndactyly, Short Stature, Autosomal Recessive

279

Blepharophimosis-Ptosis-Intellectual Disability Syndrome, UBE3B Deficiency

280

Blepharoptosis, Cleft Lip-Palate, Ectrodactyly, Dental Anomalies

281

Blomstrand Chondrodysplasia

282

Blomstrand Lethal Chondrodysplasia

283

Bloom Syndrome

284

Bloom-Torre-Machacek Syndrome

285

BOD Syndrome

286

BOFS Syndrome

287

Bohring Syndrome

288

Bohring-Opitz Syndrome

289

Bone Dysplasia Lethal Holmgren Type

290

Bone Dysplasia, Osteoporosis, Bowing, Fractures

291

Bone Dysplasia, Rosenberg-Lohr Type

292

Bone Fragility, Contractures, Arterial Rupture, Deafness

293

Bonnemann Meinecke Reich Syndrome

294

Boomerang Dysplasia

295

Boomerang-Like Skeletal Dysplasia

296

Borjeson Syndrome

297

Borjeson-Forssman-Lehmann Syndrome

298

Borrone Dermatocardioskeletal Syndrome

299

Borrone Di Rocco Crovato Syndrome

300

BOS Syndrome

301

Boucher-Neuhauser Syndrome

302

Boudhina Yedes Khiari Syndrome

303

Bowed Long Bones, Dysmorphic Facies, Cystic Hygroma

304

Bowed Tibiae, Radial Ray Defects, Osteopenia

305

Bowen Hutterite Syndrome (formerly)

306

Bowen-Conradi Hutterite Syndrome

307

Bowen-Conradi Syndrome

308

Bowing of Legs, Anterior, with Dwarfism

309

BPES

310

Brachmann-De Lange Syndrome (BdLS)

311

Brachydactyly

312

Brachydactyly and Hypertension Syndrome

313

Brachydactyly Mental Retardation Syndrome (BDMR)

314

Brachydactyly Syndrome

315

Brachydactyly Type E

316

Brachydactyly, Coloboma, Anterior Segment Dysgenesis

317

Brachydactyly, Distal Symphalangism, Talipes

318

Brachydactyly, HAWS Type

319

Brachydactyly, Mononen Type

320

Brachydactyly, Short Stature, Facial Anomalies

321

Brachydactyly, Syndactyly, Short Stature, Microcephaly, Mental Retardation

322

Brachydactyly, Type A1

323

Brachydactyly, Type A4

324

Brachydactyly, Type C

325

Brachydactyly, Type E

326

Brachydactyly, Type E1

327

Brachydactyly, Type E2

328

Brachydactyly-Distal Symphalangism Syndrome

329

Brachymelic Primordial Dwarfism

330

Brachymesomelia and Peters' Anomaly

331

Brachymesophalangy with Mesomelic Short Limbs and Carpal and Tarsal Osseous Abnormalities

332

Brachymetapody, Anodontia, Hypotrichosis

333

Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

334

Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

335

Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes

336

Brachyolmia Maroteaux Type

337

Brachyolmia Type 2

338

Brachyolmia Type 3

339

Brachyolmia, Amelogenesis Imperfecta

340

Brachyolmia, Autosomal Dominant

341

Brachyolmia, Hobaek Type

342

Brachyolmia, Maroteaux Type

343

Brachyolmia, Toledo Type

344

Brachyolmia, Type 4

345

Brachyphalangy, Tibial Aplasia, Polydactyly

346

Brachytelephalangic Chondrodysplasia Punctata

347

Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome

348

Brain Malformations and Urinary Tract Defects

349

Branchial Arch Syndrome, X-Linked

350

Branchial Clefts with Characteristic Facies Growth Retardation Imperforate

Nasolacrimal Duct and Premature Aging

351

Branchiogenic-Deafness Syndrome

352

Branchiooculofacial Syndrome

353

Branchiootic Syndrome 1

354

Branchio-Oto-Cardio-Skeletal Syndrome

355

Branchiootorenal Syndrome

356

Branchio-Skeleto-Genital Syndrome

357

BRESEK Syndrome

358

Breunzell Syndrome, Berardinelli-Seip Congenital, Type 2

359

Brittle Bone Disorder, Nishimura Type

360

Brittle Cornea Syndrome 1

361

Broad Thumb-Hallux Syndrome

362

Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation

363

Brooks Wisniewski Brown Syndrome

364

Bruck Syndrome 1

365

Bruck Syndrome 2

366

Bullous Dystrophy, Hereditary Macular Type

367

Burn-Mckeown Syndrome

368

Burton Skeletal Dysplasia

369

Buschke-Ollendorff Syndrome

370

C Syndrome

371

C3ORF5

372

CABEZAS Syndrome

373

Café-Au-Lait Macules with Pulmonary Stenosis

374

Calvarial Hyperostosis

375

CAMFAK Syndrome

376

CAMOS Syndrome

377

Campomelia, Cumming Type

378

Campomelic Dysplasia

379

Camptodactyly

380

Camptodactyly Syndrome Guadalajara Type 1

381

Camptodactyly Syndrome Guadalajara Type 2

382

Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases

383

Camptodactyly, Joint Contractures, Facial, Skeletal Defects

384

Camptodactyly, Tall Stature, Hearing Loss Syndrome

385

Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome

386

Camptodactyly-Ichthyosis Syndrome

387

Camptodactyly-Limited Jaw Excursion, Dutch-Kennedy Syndrome, Mouth, Inability to

Open Completely and Short Finger-Flexor Tendons

388

CAMRQ1

389

CAMRQ2

390

CAMTA1

391

Camurati-Engelmann Disease

392

Camurati-Engelmann Disease, Type 2

393

Cancer

394

Candidiasis, Familial, 7

395

CANPMR Syndrome

396

Cantalamessa Baldini Ambrosi Syndrome

397

Cantu Syndrome

398

Cantu-Sanchez-Corona Hernandez Syndrome

399

Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck,

Asymmetry of Face and Limbs, and Partial/Generalized Overgrowth

400

Capillary Malformation Syndrome

401

CAPOS Syndrome

402

Carbohydrate Deficient Glycoprotein Syndrome Type 2

403

Carbohydrate Deficient Glycoprotein Syndrome Type 2a

404

CARBOHYDRATE SULFOTRANSFERASE 8

405

Carcinoid Syndrome

406

Cardiac Disease

407

Cardiocranial Syndrome

408

Cardiofacial Syndrome

409

Cardiofacial Syndrome, Short Limbs

410

Cardiofaciocutaneous Syndrome

411

Cardiofaciocutaneous Syndrome 1

412

Cardiofaciocutaneous Syndrome 4

413

Cardiomelic Syndrome, Stratton-Koehler Type

414

Cardiomyopathic Mitochondrial DNA Depletion Syndrome 10

415

Cardiomyopathy

416

Cardiomyopathy and Cataract

417

Cardiomyopathy, Familial Hypertrophic

418

Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria

419

Cardio-Skeletal Syndrome

420

Cardioskeletal Syndrome, Kuwaiti Type

421

Cardiospondylocarpofacial Syndrome

422

Carey-Fineman-Ziter Syndrome

423

Carnevale Syndrome

424

Carnevale, Mingarelli, Malpuech and Michels Syndromes

425

Carney Complex

426

Carpenter Syndrome

427

Carpenter-Waziri Syndrome

428

Cartilage-Derived Morphogenetic Protein 1

429

Cartilage-Hair Hypoplasia (CHH)

430

CASK-Related Disorders

431

CASM Syndrome

432

Caspase-8 Deficiency

433

Castleman Disease

434

Castleman's Syndrome

435

Cat Eye Syndrome

436

Cataract

437

Cataract and Cardiomyopathy

438

Cataract, Aberrant Oral Frenula, and Growth Retardation

439

Cataract, Ataxia, Mental Retardation, Deafness, Polyneuropathy

440

Cataract, Mental Retardation, Dentate Gyrus Atrophy

441

Cataract-Ataxia-Deafness-Retardation Syndrome

442

Cataract-Deafness-Hypogonadism Syndrome

443

Cataract-Growth Hormone Deficiency-Sensory Neuropathy-ensorineural Hearing

Loss-Skeletal Dysplasia Syndrome

444

Cataracts, Aniridia, Anophthalmia-Microphthalmia, CNS Defects

445

Cataracts, Ataxia, Short Stature, and Mental Retardation

446

Cataracts, Contractures, Cortical Dysplasia, Cerebellar Atrophy, Osteoporosis, Growth

& Mental Retardation

447

Cataracts, Deafness, Short Stature, Hypertrichosis, Hypogonadism

448

Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss,

and Skeletal Dysplasia

449

Cataracts, Malabsorption, Respiratory and Renal Disease

450

Cataracts, Motor System Disorder, Short Stature, Learning Difficulties, and Skeletal

Abnormalities

451

Cataracts, Short Stature, Motor Neuronopathy

452

Catel-Manzke Syndrome

453

CATMANS

454

CATSHL

455

Catshl Syndrome

456

Caudal Appendage-Deafness Syndrome

457

Caudal Appendage-Short Terminal Phalanges-Deafness Syndrome

458

Cavum Septum Pellucidum, Seizures, Mental Retardation

459

Cayler Cardiofacial Syndrome

460

cblC

461

CblJ Defects

462

CCA

463

CCDS1

464

CCHS

465

CCM Syndrome

466

CDG Syndrome Type IIa

467

CDG Syndrome Type IIk

468

CDG In

469

CDG1Q

470

CDG2A

471

CDG2M

472

CDG2N

473

CDGIa

474

CDGIIa

475

CDG-IIa

476

CDGIIc

477

CDGIIg

478

CDGIIk

479

CDGIIn

480

CDGIn

481

CDGIt

482

CDGS2

483

CDGS2, FORMERLY

484

CDKL5

485

CDKL5 Early-Onset Encephalopathy

486

CDKL5 Gene Duplication

487

CDMP1

488

Cecato De Lima Pinheiro Syndrome

489

Celiac Disease

490

Cenani Syndactylism

491

Cenani-Lenz Type Syndactyly Syndrome

492

Central Hypothyroidism, Testicular Enlargement

493

Central Precocious Puberty

494

Central Sclerosis, Bamboo Hair, Ichthyosis

495

Centromeric Instability of Chromosomes 1,9 and 16 and Immunodeficiency

496

Centronuclear Myopathy, Hypertelorism, Cafe Au Lait Spots

497

Cephaloskeletal Dysplasia

498

Cerebellar Ataxia and Hypogonadotropic Hypogonadism

499

Cerebellar Ataxia, Developmental Deletionay, Failure to Thrive

500

Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive

501

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1

502

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2

503

Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion

504

Cerebellar Hypoplasia with Endosteal Sclerosis

505

Cerebellar Hypoplasia, Congenital Lymphoedema

506

Cerebellar Hypoplasia, Endosteal Sclerosis, Mental Retardation

507

Cerebellar Hypoplasia, Nonprogressive Norman Type

508

Cerebellar Hypoplasia, VLDLR-Associated

509

Cerebellofaciodental Syndrome

510

Cerebello-Oculo-Renal Syndrome, Male Infertility, NPHP4 Mutations

511

Cerebellooculorenal Syndrome, Type 1

512

Cerebello-Trigeminal-Dermal Dysplasia

513

Cerebral Aneurysm-Cirrhosis Syndrome

514

Cerebral Calcification, Opalescent Teeth, Phosphaturia

515

Cerebral Calcification-Cerebellar Hypoplasia

516

Cerebral Calcifications, Kahn-Markowitz Type

517

Cerebral Creatine Deficiency Syndrome 1

518

Cerebral Dysgenesis, Neuropathy, Ichthyosis, Palmoplantar Keratoderma Syndrome

519

Cerebral Gigantism

520

Cerebral Gigantism Jaw Cysts

521

Cerebral Lactic Acidosis

522

Cerebral Palsy

523

Cerebral Palsy Spastic Diplegic

524

Cerebral, Ocular, Dental Auricular, and Skeletal Anomalies Syndrome

525

Cerebro Facio Thoracic Dysplasia

526

Cerebro Oculo Skeleto Renal Syndrome

527

Cerebroarthrodigital Syndrome

528

Cerebro-Cerebellar Lissencephaly Variant

529

Cerebro-Costo-Mandibular Syndrome

530

Cerebrofacioarticular Syndrome

531

Cerebrofaciothoracic Dysplasia

532

Cerebrofrontofacial Syndrome

533

Cerebrohepatoeenal Syndrome

534

Cerebro-Oculo-Facio-Skeletal Syndrome

535

Cerebro-Oculo-Facio-Skeletal Syndrome 4

536

Cerebro-Oculo-Hepato-Renal Syndrome

537

Cerebro-Oculo-Skeletal-Renal Syndrome

538

Cerebro-Renal-Digital Syndrome, Lurie (G) Type

539

Cerebro-Renal-Digital Syndrome, Piantanida Type

540

Cerebro-Reno Digital Syndrome

541

Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula

542

Cerebroretinal Microangiopathy with Calcifications and Cysts 1

543

Cerebroretinal Microangiopathy, Calcification, Cysts 2

544

Cervicooculoacoustic Syndrome

545

CF

546

Chadarevian-Kaplan Syndrome

547

Chagas Disease

548

Chanarin Dorfman Syndrome

549

Char Douglas Dungan Syndrome

550

Charcot-Marie-Tooth

551

Charcot-Marie-Tooth Disease Type 2C

552

Charcot-Marie-Tooth Disease with Other Defects

553

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C

554

Charcot-Marie-Tooth Neuropathy, Type 2C

555

CHARGE Syndrome

556

Charlie M Syndrome

557

Cherubism, Gingival Fibrsis, and Short Stature

558

Cherubism, Optic Atrophy, Short Stature

559

CHILD Syndrome

560

Childhood Multiple Sclerosis

561

Childhood-Onset Choreoathetosis with Spasticity, Postnatal Microcephaly, Growth and

Mental Retardation, Ophthalmoplegia, and Deafness

562

Childhood-Onset Hypophosphatasia

563

Childhood-Onset Nemaline Myopathy

564

Childhood-Onset Neurodegeneration, Ataxia, Dystonia, Gaze Palsy

565

Childhood-Onset Phosphoethanolaminuria

566

Childhood-Onset Rathburn Disease

567

CHIME Syndrome

568

Chitayat-Hall Syndrome

569

Chitty Hall Baraitser Syndrome

570

Chitty-Baraitser Syndrome

571

Choanal Atresia, Hypothelia, Speech Deletionay

572

Choanal Atresia, Hypothelia-Athelia, Hypoplastic Thyroid

573

Choanal Atresia, Maxillary Hypoplasia, Prognathism, Hypodontia

574

Cholestasis, Progressive Familial Intrahepatic

575

Cholestasis, Progressive Familial Intrahepatic 2

576

Chondrodyslasia

577

Chondrodyslasia, Megarbane-Dagher-Melki Type

578

Chondrodysplasia Calcificans Congenita

579

Chondrodysplasia Calcificans Metaphysealis

580

Chondrodysplasia Grebe Type

581

Chondrodysplasia Lethal Recessive

582

Chondrodysplasia Ossificans Metaphysealis

583

Chondrodysplasia Pseudohermaphroditism Syndrome

584

Chondrodysplasia Punctata 1, X-Linked Recessive

585

Chondrodysplasia Punctata 2, X-Linked Dominant

586

Chondrodysplasia Punctata Brachytelephalangic

587

Chondrodysplasia Punctata Congenita

588

Chondrodysplasia Punctata, Autosomal Dominant

589

Chondrodysplasia Punctata, Brachytelephalangic, Zizka Type

590

Chondrodysplasia Punctata, Humero-Metacarpal Type

591

Chondrodysplasia Punctata, Mild-Symmetrical Type

592

Chondrodysplasia Punctata, Mortier Type

593

Chondrodysplasia Punctata, MT Type

594

Chondrodysplasia Punctata, Rhizomelic, Type 1

595


596


597

Chondrodysplasia Punctata, Tibia-Metacarpal Type

598

Chondrodysplasia Punctata, Toriello Type

599

Chondrodysplasia Punctata, Toriello-Miller Type

600

Chondrodysplasia Punctata, X-Linked Dominant Type

601

Chondrodysplasia Punctata, X-Linked Recessive

602

Chondrodysplasia with Hemangioma

603

Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly and

Microphthalmia

604

Chondrodysplasia, Blomstrand Type

605

Chondrodysplasia, Joint Dislocations, Grapp Type

606

Chondrodysplasia, Joint Dislocations, IMPAD1 Mutations

607

Chondrodysplasia, Joint Dislocations, Megarbane-Ghanem Type

608

Chondrodysplasia, Megarbane-Dagher-Melki Type

609

Chondrodysplasia-Pseudohermaphroditism Syndrome

610

Chondrodystrophia Calcificans Congenita

611

Chondrodystrophic Myotonia

612

Chondroectodermal Dysplasia with Night Blindness

613

Chondroectodermal Dysplasia-Like Syndrome

614

CHOPS Syndrome

615

Choreoacanthocytosis

616

Choreoathetosis with Mental Retardation X- linked

617

Chorioamnionitis

618

Chorioretinal Dysplasia, Microcephaly, Mental Retardation

619

Chorioretinal Dystrophy, Cerebellar Ataxia, Hypogonadism

620

Choroideremia Hypopituitarism

621

Choroideremia, Deafness, Obesity

622

Christian Syndrome

623

Chrome 1q Duplication Disorders

624

Chromophobe Renal Cell Carcinoma

625

Chromosomal Disease

626

Chromosome 1, Deletion 1p(p21-p32)

627

Chromosome 1, Deletion 1p(p32.1p32.3)

628

Chromosome 1, Deletion 1p32-1p31

629

Chromosome 1, Deletion 1p34

630

Chromosome 1, Deletion 1p36

631

Chromosome 1, Deletion 1q(q25q32)

632

Chromosome 1, Deletion 1q24-q25

633

Chromosome 1, Deletion 1q43-q44 Syndrome

634

Chromosome 1, Distal 1q Trisomy

635

Chromosome 1, Duplication 1(q23.1q31.1)

636

Chromosome 1, Duplication 1p

637

Chromosome 1, Duplication 1q

638

Chromosome 1, Duplication 1q(q12q22)

639

Chromosome 1, Duplication 1q(q25q32)

640

Chromosome 1, Duplication 1q21.1

641

Chromosome 1, Duplication 1q41-qter

642

Chromosome 1, Interstitial Deletion 1p

643

Chromosome 1, Interstitial Deletion 1q(q24.1q25.3)

644

Chromosome 1, Microdeletion 1q21.1

645

Chromosome 1, Microdeletion 1q41q42

646

Chromosome 1, Microdeletion 1q41-q42

647

Chromosome 1, Microduplication 1p34.1

648

Chromosome 1, Mosaic Trisomy 1

649

Chromosome 1, Proximal 1p36 Deletion

650

Chromosome 10, Deletion 10p11-p12

651

Chromosome 10, Distal Deletion 10q

652

Chromosome 10, Distal Trisomy 10

653

Chromosome 10, Distal Trisomy 10q

654

Chromosome 10, Duplication 10(q11-q22)

655


656

Chromosome 10, Interstitial Deletion 10q

657

Chromosome 10, Monosomy 10p

658

Chromosome 10, Partial Deletion 10p

659

Chromosome 10p Deletion

660

Chromosome 10q Deletion (10)(q26.1q26.3)

661

Chromosome 10q26 Deletion Syndrome

662

Chromosome 11 Deletion 11p13 Syndrome

663

Chromosome 11 Deletion 11q14.3q21

664

Chromosome 11 Deletion 11q23.3qtr

665


666


667

Chromosome 11, Microtriplication 11q24.1

668


669


670

Chromosome 11, Partial Monosomy 11q

671

Chromosome 11, Partial Trisomy 11q

672

Chromosome 11, Terminal Duplication 11q

673

Chromosome 12, De Novo Trisomy 12q23.1q24.33

674

Chromosome 12, Deletion 12p

675

Chromosome 12, Deletion 12q24.31 -q24.33

676


677


678


679

Chromosome 12, Microdeletion 12q14

680

Chromosome 12, Microdeletion 12q21.31q21.32

681

Chromosome 12, Mosaic Partial Duplication 12q

682


683

Chromosome 12, Partial Duplication 12q

684

Chromosome 12p Duplication

685

Chromosome 12q Duplication

686

Chromosome 12q13.13q13.13 Microduplication and Microdeletion

687

Chromosome 13 Deletion 13q12.1-14.1

688

Chromosome 13, Deletion 13q14

689


690


691

Chromosome 13, Microduplication 13q31.3

692

Chromosome 13, Partial Duplication 13p

693


694

Chromosome 13, Trisomy 13

695


696


697

Chromosome 14 Interstitial Deletion 14q24-q32

698

Chromosome 14, Deletion 14q11.22

699


700


701

Chromosome 14, Deletion 14q31 and 14q32.12

702

Chromosome 14, Interstitial Deletion 14q(q22q23)

703


704

Chromosome 14, Microdeletion 14q12, Rett Syndrome-Like PhenoType

705


706

Chromosome 14, Proximal 14q Duplication

707

Chromosome 14, Ring Chromosome 14

708

Chromosome 14, Trisomy Mosaic

709

Chromosome 14q11-q22 Deletion Syndrome

710

Chromosome 15, Deletion 15q(q15q22.1)

711

Chromosome 15, Deletion 15q11.2

712

Chromosome 15, Deletion 15q11–q14

713


714

Chromosome 15, Deletion 15q26-qter

715

Chromosome 15, Distal Trisomy 15

716

Chromosome 15, Distal Trisomy 15q

717


718


719


720


721


722


723

Chromosome 15, Proximal Deletion 15q

724

Chromosome 15, Tetrasomy 15q

725

Chromosome 15, Trisomy 15q2

726

Chromosome 15q11q13 Duplication Syndrome

727


728

Chromosome 15q21.1 Deletion

729


730

Chromosome 15q24 Duplication Syndrome, Included

731


732

Chromosome 15q26-qter Deletion Syndrome

733

Chromosome 16 [Deletion(16)(q23.1q24.2)

734

Chromosome 16, Duplication 16p11.2-p12.2

735


736

Chromosome 16, Microdeletion 16p11.2, Autism Spectrum Disorder

737

Chromosome 16, Microdeletion 16p12.1

738


739


740


741


742


743


744

Chromosome 16p12.2-p11.2 Deletion Syndrome, 7.1- to 8.7-MB

745

Chromosome 16p13.3 Deletion Syndrome

746

Chromosome 16p13.3 Deletion Syndrome, Proximal

747

Chromosome 16p13.3 Duplication Syndrome

748


749

Chromosome 16-Related Alpha-Thalassemia/Mental Retardation Syndrome

750

Chromosome 17 Trisomy Mosaicism

751

Chromosome 17, Deletion 17p13.1-p11.2

752

Chromosome 17, Duplication 17p11.2

753

Chromosome 17, Duplication 17p12

754


755


756


757


758


759


760


761


762


763


764


765


766


767

Chromosome 17p13.3 Deletion Syndrome, INCLUDED

768

Chromosome 17p13.3 Duplication Syndrome

769

Chromosome 17p13.3, Centromeric, Duplication Syndrome

770

Chromosome 17q Deletion

771

Chromosome 17q11.2 Deletion Syndrome, 1.4Mb

772


773

Chromosome 17q21.31 Duplication Syndrome

774

Chromosome 17q23.1-q23.2 Duplication Syndrome

775

Chromosome 18 Distal 18q Deletion Syndrome

776

Chromosome 18, Deletion 18p11.3

777


778


779

Chromosome 18, Monosomy 18p

780

Chromosome 18, Partial Deletion 18q

781

Chromosome 18, Proximal Deletion 18q

782


783

Chromosome 18, Trisomy 18p

784

Chromosome 18p Deletion Syndrome

785


786

Chromosome 18q- Syndrome

787

Chromosome 19- Trisomy 19q

788

Chromosome 19, Deletion 19p13.3 Microdeletion

789

Chromosome 19, Deletion 19p13.3, Deletion of MAP2K2/MEK2

790

Chromosome 19, Deletion 19q12q13.1

791

Chromosome 19, Deletion/Duplication 19p13.13

792

Chromosome 19, Interstitial Duplication 19p

793

Chromosome 19, Microduplication Terminal 19p

794


795

Chromosome 19, Partial Trisomy 19p13

796

Chromosome 19q13.11 Deletion Syndrome

797

Chromosome 19q13.11 Deletion Syndrome, Distal

798


799

Chromosome 1p32-p31 Deletion Syndrome

800


801


802

Chromosome 1q21.1 Deletion Syndrome, 1.35Mb

803

Chromosome 1q21.1 Microdeletion Syndrome

804

Chromosome 1q41-Q42 Deletion Syndrome

805

Chromosome 2, 2p23 Microdeletion

806

Chromosome 2, Deletion 2p12-p11.2

807

Chromosome 2, Deletion 2p16.3 with NRXN1 Deletions

808

Chromosome 2, Deletion 2pter

809


810

Chromosome 2, Duplication 2q21-q33

811

Chromosome 2, Duplication 2q3

812

Chromosome 2, Duplication2q11.1-q13.2

813


814


815


816

Chromosome 2, Microdeletion 2q31.1-q31.2

817


818

Chromosome 2, Microduplication in 2p16-2p22

819


820

Chromosome 2, Partial Trisomy 2p

821

Chromosome 2, Terminal Deletion 2q

822

Chromosome 20 Ring

823

Chromosome 20, Deletion 20q(q13.32-13.33)

824

Chromosome 20, Deletion 20q13 x 11

825


826

Chromosome 20, Microdeletion q11.21

827


828


829

Chromosome 20p Deletions

830

Chromosome 21 Ring

831

Chromosome 21, Deletion 21q22.1q22.3

832

Chromosome 21, Interstitial Deletion 21q(q11-q21.3)

833

Chromosome 21, Monosomy 21

834

Chromosome 22, Deletion 22q11.2 Syndrome

835


836

Chromosome 22, Duplication 22(pter-q11) Duplication 11(q23-qter)

837


838

Chromosome 22, Microduplication 22q13

839


840


841

Chromosome 2p, Deletion 2p12-p11.2

842

Chromosome 2p, Deletion Syndrome

843


844

Chromosome 2p16.1P15 Deletion Syndrome

845


846

Chromosome 2q35-q36.2 Deletion

847


848

Chromosome 3 Deletion, 3p14.12 Syndrome

849

Chromosome 3 Duplication Syndrome

850

Chromosome 3 Open Reading Frame 5

851

Chromosome 3, 3q26.33‐3q28 Microdeletion

852

Chromosome 3, Deletion 3p

853

Chromosome 3, Deletion 3p14p12

854

Chromosome 3, Deletion 3p22.3p22.2

855

Chromosome 3, Deletion 3p25.3

856

Chromosome 3, Deletion 3q13.2-q13.31

857


858

Chromosome 3, Deletion 3q27-qter

859

Chromosome 3, Deletion 3q28-29

860

Chromosome 3, Distal 3q2 Duplication

861


862

Chromosome 3, Interstitial Deletion 3p(p12p14)

863

Chromosome 3, Interstitial Deletion 3p22.2-p24.2

864


865


866

Chromosome 3, Microdeletion 3q26.33-3q27.2

867


868

Chromosome 3, Monosomy 3p25

869


870


871


872

Chromosome 3, Partial Duplication 3q and Deletion 3p

873

Chromosome 3, Trisomy 3q2

874


875


876

Chromosome 3p- Syndrome

877

Chromosome 3pter-p25 Deletion Syndrome

878

Chromosome 4, 4p16.3 Microdeletion

879


880


881


882


883

Chromosome 4, Monosomy 4q

884

Chromosome 4, Monosomy Distal 4q

885


886

Chromosome 4, Partial Trisomy 4p

887

Chromosome 4, Trisomy 4p

888


889


890

Chromosome 4p16.3 Duplication

891

Chromosome 4pter-p16.3 Duplication

892


893

Chromosome 5 Deletion, 5p15.2-5p15.3

894

Chromosome 5, 5q35 Microduplication

895

Chromosome 5, Distal Duplication 5q

896

Chromosome 5, Distal Duplication 5q ter

897

Chromosome 5, Distal Duplication 5q31 (32/33)

898

Chromosome 5, Duplication 5p13

899


900


901


902

Chromosome 5, Subtelomeric Deletion 5q

903

Chromosome 5, Subtelomeric Deletion 5q Syndrome

904

Chromosome 5, Trisomy 5p, Complete (5p11-ter), Included

905

Chromosome 5p Deletions

906


907


908

Chromosome 5q14.3 Deletion Syndrome, Proximal, Included

909

Chromosome 6 Ring

910

Chromosome 6, 6p Duplication

911


912


913


914

Chromosome 6, Microdeletion 6p25

915

Chromosome 6, Terminal Deletion 6q

916

Chromosome 6, Terminal Deletion 6q21-qter

917


918


919


920

Chromosome 7 Ring Syndrome

921

Chromosome 7, 7p Deletion Syndrome, Partial

922


923


924


925


926


927


928


929

Chromosome 7, inv(7)(q21.3q35)

930

Chromosome 7, Microdeletion 7q22.2-q22.3

931

Chromosome 7, Microduplication 7p22

932

Chromosome 7, Microduplication 7q21.2-7q31.31

933

Chromosome 7, Microduplication 7q21-7q32

934


935

Chromosome 7, Partial Monosomy 7p

936

Chromosome 7p13.3, Centromeric, Duplication Syndrome

937

Chromosome 7q Deletions Between 7q21 & 7q32

938

Chromosome 7q11.23 Deletion Syndrome, 1.5- TO 1.8-MB

939

Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB

940

Chromosome 8 Deletion q24 De Novo

941

Chromosome 8, 8q24.3 Deletion Syndrome

942

Chromosome 8, Deletion 8q

943


944


945


946


947


948

Chromosome 8, Mosaic Tetrasomy 8q

949


950

Chromosome 8, Trisomy

951

Chromosome 8p23.1 Deletion

952


953


954


955

Chromosome 9, 9p13

956

Chromosome 9, Complete Trisomy 9P

957


958


959

Chromosome 9, Partial Deletion 9p, Duplication 5q

960


961


962

Chromosome 9, Tetrasomy 9p

963


964


965

Chromosome WAGR 11 Deletion 11p13 Syndrome

966

Chromosome X, Deletion Xp11.4-p11.3

967

Chromosome X, Deletion Xp21

968

Chromosome X, Deletion Xp22

969

Chromosome X, Deletion Xp22.31-Xp22.12

970

Chromosome X, Deletion Xp22.33

971

Chromosome X, Deletion Xp22.33-Xp22.12

972

Chromosome X, Distal Duplication Xp

973

Chromosome X, Duplication Xp

974

Chromosome X, Duplication Xp11.23-p11.4

975

Chromosome X, Duplication Xp22.11-p22.32

976

Chromosome X, Duplication Xp22.2-22.13

977

Chromosome X, Duplication Xq

978

Chromosome X, Duplication Xq27.3q28

979

Chromosome X, Duplication Xq28

980

Chromosome X, FraXq27

981

Chromosome X, Microduplication Xp11.22-p11.23

982

Chromosome X, Microduplication Xp22.31

983

Chromosome X, Microduplication Xq26.3

984

Chromosome X, Xp11.22 Microduplication Ligation Syndrome

985

Chromosome Xp11.23-p11.22 DUPLICATION SYNDROME

986

Chromosome Xp11.3 Deletion Syndrome

987

Chromosome Xp21 Deletion Syndrome

988

Chromosome Xq Duplication

989

Chromosome Xq26.3 Duplication Syndrome

990

Chromosome Xq27.3-q28 Duplication Syndrome

991

Chromosome Xq27.3Q28 Duplicationlication Syndrome

992

Chromosome Xq28 Deletion Syndrome

993


994

Chromosome 19p13.13 Duplication Syndrome, Included

995


996

Chromosome 5p13 Duplication Syndrome

997


998

Chromosome Xq28 Duplication Syndrome

999

Chrone's Disease

1000

Chronic Congenital Idiopathic Hyperphosphatasemia

1001

Chronic Fatigue Syndrome

1002

Chronic Graft Versus Host Disease

1003

Chronic Idiopathic Hyperphosphatasemia

1004

Chronic Infantile Neurological Cutaneous Articular Syndrome

1005

Chronic Kideney Disease

1006

Chronic Mucocutaneous Candidiasis

1007

Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserthropoietic Anemia, and

Neutrophilic Dermatosis

1008

CHST8

1009

Chudley Rozdilsky Syndrome

1010

Chylomicron Retention Disease

1011

Ciliary Dyskinesia, primary, 11

1012

Ciliary Dyskinesia, primary, 12

1013

Ciliary Dyskinesia, Primary, 31

1014

Circumferential Skin Creases, Kunze Type

1015

Cirrhosis, Cryptogenic

1016

Citrin Deficiency

1017

Citrulline Transport Defect

1018

CK Syndrome

1019

CLAPO Syndrome

1020

Clark-Baraitser Syndrome

1021

Clavicle, Pseudarthrosis of, Congenital

1022

Clayton-Smith-Donnai Syndrome

1023

Clear Cell Chondrosarcoma

1024

Cleft Lip/Palate

1025

Cleft Lip/Palate with Abnormal Thumbs and Microcephaly

1026

Cleft Lip-Palate, Ectodermal Dysplasia Syndrome

1027

Cleft Lip-Palate, Ectrodactyly

1028

Cleft Lip-Palate, Hypertelorism, Prominent Eyes

1029

Cleft Lip-Palate, Oligodontia, Syndactyly, Pili Torti

1030

Cleft Palate Short Stature Vertebral Anomalies

1031

Cleft Palate, Camptodactyly, Deafness

1032

Cleft Palate, Psychomotor Retardation, Distinctive Facies, KDM1A Mutations

1033

Clefting, Coloboma of Choroid, Mental Retardation

1034

Cleft-Limb-Heart Malformation Syndrome

1035

Cleidocranial Dysplasia (CCD)

1036

Cleidocranial Dysplasia Recessive Form

1037

Cleidorhizomelic Dysplasia

1038

Cleidorhizomelic Syndrome

1039

C-like Syndrome

1040

Clouston Syndrome

1041

Clove Syndrome, Somatic

1042

Cloverleaf Skull Syndrome

1043

Cloverleaf Skull-Micromelic Bone Dysplasia Syndrome

1044

Cloves Syndrome

1045

Clubfoot

1046

CMT2C

1047

COACH Syndrome

1048

COACH Syndrome-Joubert Syndrome Related

1049

Coats Plus Syndrome

1050

COATS Syndrome

1051

Cobalamin C Disease

1052

Cobalamin J Defect

1053

Cockayne Syndrome

1054

Cockayne Syndrome Type A

1055

Cockayne Syndrome Type C

1056

Cockayne Syndrome, Type B

1057

Cockayne Syndrome, Type I

1058

Cockayne Syndrome, Type II

1059

Cockayne Syndrome, Type III

1060

CODAS Syndrome

1061

Coffin-Lowry Syndrome

1062

Coffin-Siris Syndrome

1063

Coffin-Siris Syndrome 1

1064


1065


1066

Coffin-Siris Syndrome, SOX11 Mutations

1067


1068


1069

COG6 Deficiency

1070

Cohen Syndrome

1071

Cohen-Scott-Smith Syndrome

1072

Cole-Carpenter Syndrome 1

1073

Cole-Carpenter Syndrome 2

1074

Colitis

1075

Collagen Disease

1076

Collagenopathy, Types 2 and 11

1077

Coloboma of Macula with Type B Brachydactyly

1078

Coloboma, Obesity, Hypogenitalism, Mental Retardation

1079

Coloboma, Ocular with Ichtyosis, Brain Malformations, and Endocrine Abnormalities

1080

Coloboma, Osteopetrosis, Microphthalmia, Microcephaly, Albinism, Deafness

1081

Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

1082

Colobomata, Unilobar Lung, Heart Defect

1083

Colobomatous Microphthalmia

1084

Colobomatous Microphthalmia, Microcephaly, Cerebellar hypoplasia

1085

Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type cblJ

1086

Combined Immunodeficiency, Autoimmunity, Spondylometaphyseal Dysplasia

1087

Combined Methylmalonic Aciduria and Homocystinuria

1088

Combined Oxidative Phosphorylation Deficiency 15

1089

Combined Oxidative Phosphorylation Deficiency Type 25

1090

Combined Pituitary Hormone Deficiency

1091

Complete Androgen Insensitivity Syndrome

1092

Complete Trisomy 21 Syndrome

1093

Complex 1 Deficiency, NDUFB3 Mutation

1094

Complex Gycerol Kinase Deficiency

1095

Complex II Deficiency

1096

Cone-Rod Dystrophy

1097

Congenital Adrenal Hyperplasia

1098

Congenital Adrenal Hyperplasia, Untreated

1099

Congenital Anonychia

1100

Congenital Arthrogryposis Apold-Bindoff Type

1101

Congenital Arthrogryposis, hyperkeratosis, Apold-Bindoff Type

1102

Congenital Cataracts, Facial Dysmorphism, and Neuropathy

1103

Congenital Central Hypoventilation Syndrome

1104

Congenital Chloride Diarrhea

1105

Congenital Contractures

1106

Congenital Disorder of Glycosylation

1107

Congenital Disorder of Glycosylation Type IIA

1108

Congenital Disorder of Glycosylation Type IIm

1109

Congenital Disorder of Glycosylation Type IIn

1110

Congenital Disorder of Glycosylation Type Iq

1111

Congenital Disorder of Glycosylation, Type Iic

1112

Congenital Disorder of Glycosylation, Type IIg

1113

Congenital Disorder of Glycosylation, Type Iik

1114

Congenital Disorder of Glycosylation, Type in

1115

Congenital Disorder of Glycosylation, Type It

1116

Congenital Disorders of Glycosylation, Type IIc

1117

Congenital Dyserythropoietic Anemia, Type IV

1118

Congenital Fiber-Type disproportion (CFTD)

1119

Congenital Generalized Lipodystrophy

1120

Congenital Heart Anomalies

1121

Congenital Heart Disease, Choanal Stenosis, Short Stature, Dysmorphic Facies

1122

Congenital Hemolytic Anemia

1123

Congenital Hepatic Fibrosis

1124

Congenital Hypoparathyroidism

1125

Congenital Hypothyroidism

1126

Congenital Hypothyroidism, Cerebellar Hypoplasia, Mental Retardation

1127

Congenital Ichthyosiform Erythroderma

1128

Congenital IGHD

1129

Congenital Isolated GH

1130

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

1131

Congenital Lymphedema

1132

Congenital Metacarpal Pseudoarthrosis, Cleft Palate, Short Stature, Advanced Bone Age,

and Genu Valgum

1133

Congenital Muscular Dystrophy

1134

Congenital Muscular Dystrophy, Cataracts, Intellectual Disability, Mutations in INPP5K

1135

Congenital Muscular Dystrophy, Gonadal Dysgenesis

1136

Congenital Muscular Dystrophy, Muntoni-Brockington Type

1137

Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B6

1138

Congenital Muscular Hypertrophy-Cerebral Syndrome

1139

Congenital Myopathic Arthrogryposis, Seizures

1140

Congenital Myopathy

1141

Congenital Myopathy, Compton-North Type

1142

Congenital Myopathy, Diarrhoea, Bullous Eruption of Skin, Microcephaly, Deafness

1143

Congenital Nephrotic Syndrome Finnish Type

1144

Congenital Optic Atrophy and Brachytelephalangy

1145

Congenital OsteoSclerosis, Polymicrogyria

1146

Congenital Rubella Syndrome

1147

Congenital Sensory Neuropathy, Skeletal Dysplasia

1148

Congenital Short Bowel Syndrome

1149

Congenital Telangiectatic Erythema

1150

Congenital Toxoplasmosis

1151

Congenital Trichomegaly

1152

Congenital Variant Rett Syndrome

1153

Congenital Varicella Syndrome

1154

Congestive Heart Failure

1155

Connective Tissue Disease

1156

Connective Tissue Dysplasia, Breathnach Type

1157

Conospondylar Dysplasia

1158

Conotruncal Anomaly Face Syndrome

1159

Conotruncal Heart Defect, Microphthalmia

1160

Conotruncal Heart Malformations

1161

Conradi-Hünermann Syndrome

1162

Conradi-Hünermann Syndrome, Happle Syndrome

1163

Constitutional Growth Deletionay

1164

Contractural Arachnodactyly, Congenital

1165

Contractures

1166

Contractures, Ectodermal Dysplasia, Cleft lip-Palate

1167

Contractures, Multiple with Arachnodactyly

1168

Contractures, Oedema, Hyperkeratosis, Growth Retardation

1169

Contractures, Webbed Neck

1170

Cooley’s Anemia

1171

Copper Deficiency, Familial Benign

1172

Corneal Crystals, Myopathy, Neuropathy

1173

Corneal Dermoids, Short Stature

1174

Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility

1175

Cornelia de Lange Syndrome

1176

Cornelia de Lange Syndrome 2

1177


1178


1179

Cornelia de Lange Syndrome, X-Linked

1180

Cornelia de Lange Syndrome-Like, HDAC8 Mutations

1181

Cornelia de Lange-Like Syndrome, TAF6 Mutation

1182

Corneodermatoosseous Syndrome

1183

Coronary Heart Disease

1184

Corpus Callosum Agenesis

1185

Corpus Callosum Defects, Developmental deletionay, Short Stature, Facial Dysmorphism

1186

Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence

1187

Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia

1188

Cortical Blindness, Polydactyly, Mental Retardation

1189

Cortical Blindness, Retardation, and Postaxial Polydactyly

1190

Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

1191

CORTISONE REDUCTASE DEFICIENCY 1

1192

CORTISONE REDUCTASE DEFICIENCY 2

1193

CORTRD1

1194

CORTRD2

1195

Costello Syndrome

1196

Costovertebral Segmentation Defect with Mesomelia, Formerly

1197

COUSIN Syndrome

1198

Cowden Disease Type 2 Segmental

1199

Cowden Syndrome

1200

Coxa Plana

1201

Coxoauricular Syndrome

1202

COXPD15

1203

CPHD4

1204

CPPB2

1205

Cramer-Niederdeletionlmann Syndrome

1206

Crane-Heise Syndrome

1207

Cranio-Cerebello-Cardiac Syndrome

1208

Craniodiaphyseal Dysplasia (CDD)

1209

Craniodiaphyseal Dysplasia, Autosomal Dominant Type

1210

Craniodigital Syndrome, Intellectual Disability Syndrome

1211

CranioEctodermal Dysplasia 1

1212


1213


1214


1215

CranioEctodermal Dysplasia, Lammer-Margolis Type

1216

Craniofacial Anomalies, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects

1217

Craniofacial Anomalies, Humero-Radial Synostosis, Rhizomelic Short Limbs

1218

Craniofacial Digital Genital Anomalies

1219

Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome

1220

Craniofacial Dysostosis with Diaphyseal Hyperplasia

1221

Craniofacial Dysostosis, Omphalocele, Limb Defects

1222

Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome

1223

Craniofacial Dyssynostosis with Short Stature

1224

Craniofacial Malformations, Orstavik Type

1225

Craniofacial Syndrome

1226

Craniofacial Syndrome, Mutations in ARCN1

1227

Craniofaciofrontodigital Syndrome

1228

Craniofrontonasal Dysplasia

1229

Craniometadiaphyseal Dysplasia

1230

Craniometaphyseal Dysplasia, Autosomal Dominant Type

1231

Craniomicromelic Syndrome

1232

Cranio-Oculo-Dental Syndrome

1233

Cranio-Oro-Digital Syndrome

1234

Cranioosteoarthropathy

1235

Craniopharyngioma

1236

Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and

Mandibular Ankylosis

1237

Craniosynostosis

1238

Craniosynostosis with Radial Defects

1239

Craniosynostosis, Fibular Aplasia

1240

Craniosynostosis, Hunter-McAlpine

1241

Craniosynostosis, Mental Retardation, Heart Defects

1242

Craniosynostosis, Waardenburg Type

1243

Craniosynostosis-Radial Aplasia Syndrome

1244

Craniosynostosis-Radial Aplasia, Imaizumi Type

1245

Creatine Deficiency Syndrome, X-Linked

1246

Cri Du Chat Syndrome

1247

Crisponi/CISS1 Syndrome

1248

CROGV Malformation Syndrome

1249

Crohn's Colitis

1250

Crohn's Disease

1251

Crome Syndrome

1252

Cross-McKusick-Breen Syndrome

1253

Crouzon Syndrome

1254

Crouzon Syndrome with Acanthosis Nigricans

1255

Culler-Jones Syndrome

1256

Curatolo-Cilio Pessagno Syndrome

1257

Curry-Hall Syndrome

1258

Curry-Jones Syndrome

1259

Cushing Syndrome

1260

Cutaneous Leishmaniasis

1261

Cutaneous Mastocytosis, Conductive Hearing Loss and microtia

1262

Cutaneousleishmaniasis (subtype)

1263

Cutis Laxa

1264

Cutis Laxa Type 2, Autosomal Recessive

1265

Cutis Laxa with Fibulin-4 Mutation

1266

Cutis Laxa, Dandy-Walker Malformation, Cardiac Defects

1267

Cutis Laxa, Dandy-Walker Syndrome, Immunodeficiency

1268

Cutis Laxa, Developmental Deletionay, Epiphyseal Dysplasia, Deafness

1269

Cutis Laxa, Facial Dysmorphism, Cleft Palate

1270

Cutis Laxa, Pulmonary Hypertension

1271

Cutis Laxa, Skeletal Defects, Ambiguous Genitalia

1272

Cutis Laxa, Type 1

1273

Cutis Marmorata Telangiectatica Congenita

1274

Cutis Verticis Gyrata

1275

Cutis Verticis Gyrata, Thyroid Aplasia, Mental Retardation

1276

Cyclic Vomiting Syndrome

1277

CYCLIN-DEPENDENT KINASE-LIKE 5

1278

CYP11B1

1279

CYP19A1

1280

Cystic Angiomatosis with Seip Syndrome

1281

Cystic Fibrosis

1282

Cystinosis

1283

Cytochrome C Oxidase Deficiency

1284

CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1

1285

CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1

1286

Cytomegalovirus Infection

1287

D Ercole Syndrome

1288

D-2-Hydroxyglutaric Aciduria

1289

Da Silva Syndrome

1290

Dacryocystitis

1291

Daentl Towsend Siegel Syndrome

1292

Dahlberg Borer Newcomer Syndrome

1293

Daish Hardman Lamont Syndrome

1294

Dandy-Walker Complex, Macrocephaly, Facial Anomalies

1295

Dandy-Walker Cyst, Meningocele, Microphthalmia

1296

Dandy-Walker Malformation

1297

Dandy-Walker Malformation, Facial Hemangioma

1298

Dandy-Walker Malformation, Polydactyly

1299

Danks Syndrome

1300

Dappled Metaphysis Syndrome

1301

Da-Silva Syndrome

1302

Dauwerse-Peters Syndrome

1303

D-CHRAMPS Syndrome

1304

DCMA Syndrome

1305

De Barsy Syndrome

1306

De Hauwere Syndrome

1307

De Morsier Syndrome

1308

De Novo 3q2 Trisomy with ins(8;3)

1309

De Novo Combined 5q Duplication-9p Deletion Syndrome

1310

De Novo Interstitial Deletion Deletion(1)(p2 lp32)

1311

De Sanctis-Cacchione Syndrome

1312

Deafness Enamel Hypoplasia Nail Defects

1313

Deafness Epiphyseal Dysplasia Short Stature Syndrome

1314

Deafness, Congenital, with Split Hands and Feet

1315

Deafness, Congenital, with Vitiligo and Achalasia

1316

Deafness, Epiphyseal Dysplasia, Short Stature

1317

Deafness, Femoral Epiphyseal Dysplasia, Short Stature and Developmental Delay

1318

Deafness, Pituitary Dwarfism

1319

Deafness, Ptosis, Skeletal Malformations

1320

Deafness, Renal Tubular Acidosis

1321

Deafness, Short Stature, Femoral Epiphyseal Dysplasia

1322

Deafness, Skeletal Dysplasia, lip granuloma

1323

Deafness, Vitiligo, Achalasia

1324

Deafness-Hermann Type Symphalangism Syndrome

1325

Deficiency of Glycerol Kinase

1326

Deficiency of Hyaluronoglucosaminidase

1327

Deficiency of Malonyl-CoA Decarboxylase

1328

Deficiency of Steroid 11-beta-Monooxygenase

1329

Del(17)(q11)

1330

Del(3p) Syndrome

1331

Delayed Physical Development, Erythematosquamous Eruption, Opaque Leukonychia,

Intellectual Disability, and Low Serum Lipids

1332

Deletion 17q

1333

Deletion 1q41-q42

1334

Deletion 3p

1335

Deletion 3p25

1336

Deletion 4p

1337

Deletion 4q

1338

Deletion 8q

1339

Deletion 9q

1340

DELTA, DROSOPHILA, HOMOLOG-LIKE 1

1341

DeMorsier Syndrome

1342

Dent Disease

1343

Dent Disease 2

1344

Dental Anomalies and Short Stature

1345

Dentinogenesis Imperfecta

1346

Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome

1347

Dento-Oculo-Osseous Dysplasia

1348

Depressor Anguli Oris Muscle, Hypoplasia of

1349

Dermatitis

1350

Dermo-Chondro-Corneal Dystrophy

1351

Dermotrichic Syndrome

1352

DeSanto-Shinawi Syndrome

1353

Desbuquois Dysplasia

1354

Desbuquois Dysplasia 2

1355

Desmosterolosis

1356

Developmental Delay, Short Stature, Dysmorphic Features, Sparse Hair, Mutations in DPH1

1357

Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications

1358

Devriendt Syndrome

1359

Dextrocardia

1360

Diabetes Insipidus, Nephrogenic

1361

Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification

1362

Diabetes Mellitus, Noninsulin-Dependent

1363

Diabetes Mellitus, Cerebellar Hypoplasia

1364

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigrican

1365

Diabetes, Ataxia, Proximal Tubulopathy

1366

Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis

1367

Diamond-Blackfan Anemia (Syndrome)

1368

Diamond-Blackfan Anemia 1

1369


1370


1371


1372


1373


1374


1375


1376


1377


1378


1379

Diaphanospondylodysostosis

1380

Diaphragmatic Agenesis, Multiple Midline Defects

1381

Diaphragmatic Hernia, Hydrocephalus, Heart Defects

1382

Diaphyseal Aclasis

1383

Diastrophic Dwarfism

1384

Diastrophic Dysplasia

1385

Diastrophic Nanism Syndrome

1386

DIDMOAD Syndrome

1387

Diencephalic Syndrome

1388

DiGeorge Sequence or Velocariofacial Syndrome

1389

DiGeorge Syndrome

1390

Digital Anomalies Intellectual Disability Short Stature Syndrome

1391

Digital Arthropathy-Brachydactyly, Familial

1392

Digitotalar Dysmorphism

1393

Dihydrolipoamide Dehydrogenase Deficiency

1394

Dihydropyrimidinase Deficiency

1395

Dihydroxyacetonephosphate Acyltransferase Deficiency

1396

Dilated Cardiomyopathy

1397

Dilated Cardiomyopathy, Ataxia, Testicular Dysgenesis

1398

Diploid-Tripoid Mosaicism

1399

Dislocated Hips & Radial Heads, Carpal Coalition

1400

Dislocated Hips and Radial Heads, Carpal Coalition, Scoliosis and Short Stature

1401

Dislocation of Hip, Congenital, with Hyperextensibility of Gingers and Facial Dysmorphism

1402

Disorder of Hyaluronan Metabolism

1403

Disproportionate Short Stature with Ptosis and Valvular Heart Lesions

1404

Disproportionately Short Stature

1405

Distal 18q Deletion Syndrome

1406

Distal 3p Deletion

1407

Distal 5q Duplication Syndrome

1408

Distal Arthrogryposis Type 7

1409

Distal Arthrogryposis Type 9

1410

Distal Arthrogryposis Types 3, 4, and 6

1411

Distal Arthrogryposis Types 3, 4, and 6

1412

Distal Arthrogryposis, Bijlsma-Boles Type

1413

Distal Arthrogryposis, Impaired Proprioception and Touch (DAIPT)

1414

Distal Arthrogryposis, Mental Retardation, Chitayat-Hall Type

1415

Distal Arthrogryposis, Rivera Type

1416

Distal Arthrogryposis, Type 5

1417

Distal Arthrogryposis, Whistling Face, Pierre Robin

1418

Distal Chromosome 22q11.2 Deletion Syndrome

1419

Distal Chromosome 7q11.23 Deletion Syndrome

1420

Distal Monosomy 17q

1421

Distal Monosomy 3p

1422

Distal Monosomy 7q36

1423

Distal Muscular Atrophy, Deafness

1424

Distal Osteosclerosis

1425

Distal Trisomy 10q Syndrome, Duplicated q24.31 – qter

1426

Distal Trisomy 14q

1427

Distal Trisomy 15q

1428

Distal Trisomy 17q

1429

Distal Trisomy 6p

1430

Distal Xp Duplication

1431

Distal Xp Duplication Duplication Xq

1432

Distal Xq28 Microduplication Syndrome

1433

DLK1

1434

DMC Disease

1435

DNMT3A Overgrowth Syndrome

1436

Dobrow Syndrome

1437

Dolichospondylic Dysplasia

1438

Donnai-Barrow Syndrome

1439

DONOHUE SYNDROME

1440

DOORS Syndrome

1441

Down Syndrome

1442

Drayer Syndrome

1443

Du Pan Syndrome

1444

Duane Anomaly-Myopathy-Scoliosis Syndrome

1445

Dubowitz Syndrome

1446

Dubowitz Syndrome, Type 2

1447

Duchenne Muscular Dystrophy

1448

Duodenal Atresia

1449

Duodenitis

1450

Duplication 10q

1451

Duplication 12q

1452

Duplication 1q

1453

Duplication 3p

1454

Duplication of the Pituitary Gland

1455

Duplication Xq

1456

Duplication in Chromosome Band Xp22.2–22.13

1457

Duplications of 20p

1458

Duplications of 2p

1459

Dwarfism

1460

Dwarfism with Short, Bowed, Rigid Limbs and Characteristic Facies

1461

Dwarfism, Levi Type

1462

Dwarfism, Low-Birth-Weight Type with Unresponsiveness to Growth Hormone

1463

Dwarfism, Proportionate with Hip Dislocation

1464

Dwarfism, Tall Vertebral Bodies

1465

Dyggve Melchior Clausen Syndrome

1466

Dyschondrosteosis Nephritis

1467

Dysencephalia Splanchnocystica

1468

Dysequilibrium Syndrome

1469

Dyserythropoiesis, Microcephaly, Intrauterine Growth Retardation

1470

Dyserythropoietic Anemia, Congenital Type 1

1471

Dyserythropoietic Anemia, Congenital, Type Ib

1472

Dysgenesis Corpus Callosum, Microcephaly, Mental Retardation

1473

Dysgenesis Mesodermalis Corneae et Sclerae

1474

Dyskeratosis Congenita Syndrome

1475

Dyskeratosis Congenita, Autosomal Dominant 2

1476

Dyskeratosis Congenita, Autosomal Dominant 3

1477

Dyskeratosis Congenita, X-Linked

1478

Dysmorphic Facies, Hypotonia, Seizures, Precocious Puberty

1479

Dysmorphism Arthrogryposis Skeletal Maturation Advanced

1480

Dysmorphism Cleft Palate Loose Skin

1481

Dysmorphism-Short Stature-Deafness-Pseudohermaphroditism Syndrome

1482

Dysmorphism-Short-Stature-Deafness-Disorder of Sex Development Syndrome

1483

Dysosteosclerosis

1484

Dysplasia Resembling Kniest Dysplasia

1485

Dysplastic Cortical Hyperostosis

1486

Dysseg Mental Dysplasia, Rolland-Desbuquois Type

1487

Dysseg Mental Dysplasia, Silverman-Handmaker Type

1488

Dysspondyloenchondromatosis

1489

Dystelephalangy, Unusual Facies

1490

Dystonia, Deafness, Dysmorphism

1491

Dystonia, Juvenile Onset

1492

Ear Anomalies-Contractures-Dysplasia of Bone with KyphoScoliosis

1493

Early Balding, Patella Luxation, Acromicria and Hypogonadism

1494

Early-Onset Encephalopathy, Mutations in TBCD

1495

EAST Syndrome (Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy )

1496

Ectodermal Dysplasia

1497

Ectodermal Dysplasia 2, Clouston Type

1498

Ectodermal Dysplasia and Neurosensory Deafness

1499

Ectodermal Dysplasia with Natal teeth, Turnpenny Type

1500

Ectodermal Dysplasia, Alfadley-Parkes Type

1501

Ectodermal Dysplasia, Aplasia Cutis Congenita

1502

Ectodermal Dysplasia, Arthrogryposis, Diabetes Mellitus

1503

Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary DySkinesia

1504

Ectodermal Dysplasia, Ocular Anomalies, Wallis-Beighton Type

1505

Ectodermal Dysplasia, Olivopontocerebellar Degeneration, Short Stature

1506

Ectodermal Dysplasia, Osteosclerosis

1507

Ectodermal Dysplasia-Short Stature Syndrome

1508

Ectopia Lentis, Craniofacial Dysmorphism

1509

Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/Palate Syndrome

1510

Ectrodactyly, Deafness

1511

Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

1512

Ectrodactyly-Cleft Lip/Palate Syndrome

1513

Edinburgh Malformation Syndrome

1514

EDS VIB (formerly)

1515

EDSSLA

1516

Edward's Syndrome

1517

EEC Syndrome

1518

EEC, Rudiger Syndrome 1

1519

Ehlers- Danlos Syndrome, Progeroid Type, 1

1520

Ehlers-Danlos Syndrome Type 6B (formerly)

1521

Ehlers-Danlos Syndrome Type VIIC

1522

Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

1523

Ehlers-Danlos Syndrome, Progeroid Type, 2

1524

Ehlers-Danlos Syndrome, Type VII

1525

Ehlers-Danlos Syndrome, Type Viib

1526

EIEE2

1527

Elastolysis

1528

Elejalde Syndrome

1529

Ellis-Van Creveld Syndrome

1530

Emery-Nelson Syndrome

1531

Empty Sella Syndrome

1532

Encephalocele

1533

Encephalomyopathy

1534

Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency,

Microcephaly, and Retinal Degeneration

1535

Encephalopathy, Retinal Degeneration, Short Stature

1536

ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE

1537

Endocrine, Neuroectodermal Abnormalities, Oerter Type

1538

Endocrine-Cerebroosteo Dysplasia

1539

Endometriosis

1540

Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome

1541

Eng-Strom Syndrome

1542

Eosinophilic Gastroenteritis

1543

EPHA4

1544

epidermal Nevus Syndrome, Castori Type

1545

Epidermolysa Bullosa Simplex and Limb Girdle Muscular Dystrophy

1546

Epidermolysis Bullosa Macular Type

1547

Epidermolysis Bullosa Simples, Dowling-Meara Type

1548

Epidermolysis Bullosa Simplex and Muscular Dystrophy

1549

Epilepsy

1550

Epileptic Encephalopathy

1551

Epileptic Encephalopathy, Early Infantile, 2

1552

Epileptic Encephalopathy, Early Infantile, 29

1553

Epileptic Encephalopathy, SZT2 Mutations

1554

Epimetaphyseal Skeletal Dysplasia

1555

Epiphyseal Chondrodysplasia, Miura Type

1556

Epiphyseal Dysplasia Hearing Loss Dysmorphism

1557

Epiphyseal Dysplasia Multiple with Early-Onset Diabetes Mellitus

1558

Epiphyseal Dysplasia, Microcephaly, and Nystagmus

1559

Epiphyseal Dysplasia, Multiple 1

1560

Epiphyseal Dysplasia, Multiple, 2

1561

Epiphyseal Dysplasia, Multiple, 3

1562

Epiphyseal Dysplasia, Multiple, 3, with Myopia and Conductive Deafness

1563

Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia

1564

Epiphyseal Stippling Syndrome

1565

Epiphyseal Stippling, Osteoclastic Hyperplasia

1566

Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Lge

1567

Escobar Syndrome

1568

ESR1

1569

ESTROGEN RECEPTOR 1

1570

Estrogen Resistance

1571

Even-Plus Syndrome

1572

Exomphalos, Short Limbs, Macrogonadism

1573

Exomphalos-MacrogLossia-Gigantism Syndrome

1574

Exostoses, Multiple, Type 1

1575

Exostoses, Multiple, Type 2

1576

Exotropia

1577

Extrasystoles Short Stature Hyperpigmentation Microcephaly

1578

Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and

Microcephaly

1579

Extrasystoles, Short Stature, Hyperpigmentation, Mental Retardation

1580

Exudative Retinopathy, Cerebral Calcifications, Duodenal Atresia, Preaxial Polydactyly,

Micropenis, Microcephaly, Short Stature

1581

Fabry Disease

1582

FACES Syndrome

1583

Facial Dysmorphism, Cerebral Vascular Anomalies, Developmental Delay

1584

Facial Dysmorphism, Pigmented Nevi, Osteoporosis, Brachydactyly, Skeletal Anomalies

1585

Facial Dysmorphism, Right Sided Aortic Arch, Mental Retardation

1586

Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome

1587

Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome

1588

Facies

1589

Facio-Audio-Symphalangism Syndrome

1590

Facio-Auricular Syndrome, Simosa Type

1591

Facio-Auriculo-Radial Dysplasia

1592

Facioauriculothoracic Malformations

1593

Facio-Auriculo-Thoracic Syndrome, Megarbane Type

1594

Facio-Cardio-Melic Dysplasia

1595

Faciocardiomelic Syndrome

1596

Facio-Cardio-Renal Syndrome

1597

Facio-Cutaneous-Skeletal Syndrome, Borochowitz Type

1598

Faciodigitogenital Syndrome, Autosomal Recessive

1599

Facio-Digito-Genital Syndrome, Kuwait Type

1600

Facio-oculo-Acoustico-Renal Syndrome

1601

Faciopalatoosseous Syndrome

1602

Facioscapulohumeral Dystrophy, Deafness, Coat's Disease

1603

Failure to Thrive

1604

Fallot Complex, Mental Retardation, Growth Retardation

1605

Familial Adenomatous Polyposis

1606

Familial Aniridia, Ptosis, Mental Retardation, Obesity

1607

Familial Brachial Plexus Neuropathy

1608

Familial DNA-Methylation Disorder, Caliebe Type

1609

Familial Dwarfism, Muscle Spasms

1610

Familial Dysautonomia

1611

Familial Dysautonomia, FD

1612

Familial Empty Sella, Rieger's Anomaly

1613

Familial Erythrophagocytic Lymphohistiocytosis

1614

Familial Glucocorticoid Deficiency (FGD)

1615

Familial Gynecomastia, due to Increased Aromatase Activity

1616

Familial Hemophagocytic Lymphohistiocytosis

1617

Familial Histiocytic Reticulosis

1618

Familial Hydiopatic Hyperphosphatasia

1619

Familial Idiopathic Hyperphosphatasia

1620

Familial Intestinal Malrotation, Facial Anomalies

1621

Familial Macrocephaly

1622

Familial Mitral Valve Prolapse

1623

Familial Osteochondritis Dissecans

1624

Familial Osteoectasia or Jevenile Paget's Disease

1625

Familial Patella Aplasia-Hypoplasia and Nail-Patella Syndrome

1626

Familial Rhizomelic Dysplasia

1627

Familial Scaphocephaly Syndrome

1628

Familial Shoulder Girdle Defect, Mental Retardation

1629

Familial Spastic Paraplegia Associated with Large Stature and Chromosomal Abnormalities

1630

Familial Tall Stature

1631

Familial Thyroid Dyshormonogenesis

1632

Familial X-Linked Hypophosphatemic Vitamin D Refractory Rickets

1633

Familial Xp22.33-Xp22.12 Deletion

1634

Fanconi Anemia, Complementation Group A

1635

Fanconi Anemia, Complementation Group C

1636

Fanconi Anemia, Complementation Group D2

1637

Fanconi Anemia, Complementation Group E

1638

Fanconi Anemia, Complem

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