|
peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease
|
C563789 |
|
|
autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD
|
13785 |
|
|
hyperthyroidism, congenital nonautoimmune
|
C563786 |
|
|
autosomal dominant nonsyndromic hereditary hearing impairment
|
C537845 |
|
|
lissencephaly syndrome, norman-roberts type
|
C537848 |
|
|
retinal, 1, north carolina type macular dystrophy
|
C537835 |
|
|
congenital, x-linked nystagmus 1
|
C537853 |
|
|
infantile, x-linked nystagmus 1
|
C537853 |
|
|
motor 2 nystagmus congenital
|
C537854 |
|
|
ehlers-danlos syndrome, occipital horn type
|
C537860 |
|
|
ehlers-danlos syndrome, occipital horn type (formerly)
|
C537860 |
|
|
nettleship-falls type ocular albinism
|
C537863 |
|
|
congenital progressive oculo-acoustico-cerebral degeneration
|
C537849 |
|
|
epithelioid leiomyosarcoma of body of uterus
|
3782 |
|
