/muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers

muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers

MONDO:0011009

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inherited bleeding disorder, platelet-type

MONDO:0000009

infantile liver failure

MONDO:0000023

febrile seizures, familial

MONDO:0000032

hereditary hypophosphatemic rickets

MONDO:0000044

hypothyroidism, congenital, nongoitrous

MONDO:0000045

isolated microphthalmia

MONDO:0000062