|
goiter, multinodular 1, with or without sertoli-leydig cell tumors
|
C562732 |
|
|
telomeric duplication 16p
|
13273 |
|
|
LEUKODYSTROPHY, HYPOMYELINATING, 18
|
32730 |
|
|
leukodystrophy, hypomyelinating, 18
|
32730 |
|
|
autosomal recessive 38 deafness
|
C564273 |
|
|
histiocytosis with Joint contractures and sensorineural deafness
|
11273 |
|
|
GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE
|
32733 |
|
|
GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
|
32738 |
|
|
Protuberan, Pigmented Dermatofibrosarcoma
|
23273 |
|
|
Protuberans, Pigmented Dermatofibrosarcoma
|
23273 |
|
|
SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT
|
32737 |
|
