|
mental retardation with chorioathetosis and abnormal behavior
|
10327 |
|
|
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
|
32790 |
|
|
generalized epilepsy with febrile seizures plus, type 10
|
32777 |
|
|
mitochondrial disease with hypertrophic cardiomyopathy
|
16327 |
|
|
neurodevelopmental disorder with impaired speech and hyperkinetic movements
|
32741 |
|
|
spondyloepimetaphyseal dysplasia with joint laxity, type 3
|
32724 |
|
|
immunodeficiency 63 with lymphoproliferation and autoimmunity
|
32782 |
|
|
neurodevelopmental disorder with microcephaly and structural brain anomalies
|
32779 |
|
|
neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
|
32705 |
|
|
familial primary, with multiple ossifying jaw fibromas hyperparathyroidism
|
C563273 |
|
|
developmental delay with or without dysmorphic facies and autism
|
32760 |
|
|
holoprosencephaly 12 with or without pancreatic agenesis
|
32787 |
|
|
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
|
32755 |
|
|
lipodystrophy, partial, with rieger anomaly, and short stature
|
C537327 |
|
|
neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
|
32784 |
|
