|
spastic ataxia 9, autosomal recessive
|
32753 |
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)
|
32799 |
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER 59
|
32795 |
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
|
32770 |
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
|
32759 |
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69
|
32715 |
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70
|
32729 |
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71
|
32789 |
|
|
GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
|
32738 |
|
|
Apolipoprotein A-I Deficiency
|
32766 |
|
|
HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
|
32780 |
|
|
Protuberan, Pigmented Dermatofibrosarcoma
|
23273 |
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE
|
32796 |
|
|
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
|
32742 |
|
