|
Congenital hypomyelinating neuropathy 1 |
approved
|
605253 |
|
|
|
|
Congenital hypomyelinating neuropathy 2 |
approved
|
618184 |
|
|
|
|
Congenital hypomyelinating neuropathy 3 (CHN3) |
approved
|
618186 |
|
|
|
|
Congenital Mitochondrial Encephalomyopathy |
approved
|
500002 |
|
|
|
|
Congenital stationary night blindness Type 1A (CSNB1A) |
approved
|
310500 |
|
|
Conradi-Hunermann-Happle Syndrome |
approved
|
302960 |
|
|
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis, |
approved
|
602066 |
|
|
|
|
Cowden syndrome (CS)/PTEN Hamartoma Tumour Syndrome (PHTS) |
approved
|
601728, 158350, 153480, 605309 |
|
|
Craniofrontonasal syndrome (CFNS) |
approved
|
304110 |
|
|
|
|
Crigler-Najjar Syndrome Type 1 (CN1) |
approved
|
218800 |
|
|
|
|
Crouzon Syndrome |
approved
|
123500 |
|
|
Crouzon with acanthosis nigrans syndrome |
approved
|
612247 |
|
|
|
|
Currarino Syndrome |
approved
|
176450 |
|
|
|
|
Cutis Laxa, autosomal dominant 1 (ADCL1) |
approved
|
123700 |
|
|
|
|
Cutis Laxa, autosomal recessive, type IA (ARCL1A) |
approved
|
219100 |
|
|
|
|
Cutis Laxa, autosomal recessive, type IB (ARCL1B) |
approved
|
614437 |
|
|
|
|
Cutis Laxa, autosomal recessive, type IC (ARCL1C) |
approved
|
613177 |
|
|
|
|
Cutis Laxa, autosomal recessive, type IIA (ARCL2A) |
approved
|
219200 |
|
|
|
|
Cutis Laxa, autosomal recessive, type IIB; ARCL2B |
approved
|
612940 |
|
|
|
|
Cutis Laxa, autosomal recessive, type IIC (ARCL2C), |
approved
|
617402 |
|
|
|
