|
mitochondrial disease with hypertrophic cardiomyopathy
|
16327 |
|
|
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
|
32755 |
|
|
lipodystrophy, partial, with rieger anomaly, and short stature
|
C537327 |
|
|
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 seizures and nonepileptic hyperkinetic movements
|
32784 |
|
|
neurodevelopmental disorder with microcephaly and structural brain anomalies
|
32779 |
|
|
neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
|
32705 |
|
|
neurodevelopmental disorder with seizures and speech and walking impairment
|
32775 |
|
|
cerebellar atrophy with seizures and variable developmental delay
|
32788 |
|
|
myopathy, congenital, with tremor
|
32797 |
|
|
familial primary, with multiple ossifying jaw fibromas hyperparathyroidism
|
C563273 |
|
