|
mitochondrial DNA depletion syndrome 16 (hepatic type)
|
32799 |
|
|
leber congenital amaurosis 19
|
32794 |
|
|
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
|
32790 |
|
|
intellectual developmental disorder 59
|
32795 |
|
|
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
|
32798 |
|
|
long QT syndrome 13; LQT13
|
http://purl.obolibrary.org/obo/MONDO_0013279 |
|
|
hyper-ige recurrent infection syndrome 4, autosomal recessive
|
32796 |
|
|
neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
|
32792 |
|
|
long QT syndrome caused by mutation in KCNJ5
|
13279 |
|
|
myopathy, congenital, with tremor
|
32797 |
|
