|
GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
|
32738 |
|
|
Protuberan, Pigmented Dermatofibrosarcoma
|
23273 |
|
|
Protuberans, Pigmented Dermatofibrosarcoma
|
23273 |
|
|
Dermatofibrosarcoma Protuberan, Pigmented
|
23273 |
|
|
Dermatofibrosarcoma Protuberans, Pigmented
|
23273 |
|
|
Pigmented Dermatofibrosarcoma Protuberan
|
23273 |
|
|
Pigmented Dermatofibrosarcoma Protuberans
|
23273 |
|
|
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)
|
23273 |
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 113
|
32732 |
|
|
METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
|
32736 |
|
|
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
|
32738 |
|
|
global developmental delay, progressive ataxia, and elevated glutamine
|
32733 |
|
|
Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia
|
32733 |
|
|
Pigmented dermatofibrosarcoma protuberans
|
23273 |
|
|
chromosome 16p13.3 duplication
|
13273 |
|
