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Entry Name Description Category Pathway Gene
H01937 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
Hydranencephaly with renal aplasia-dysplasia
... hydranencephaly (MARCH) is an autosomal-recessive lethal fetal ciliopathy caused by loss-of-function mutations in CEP55. Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with ... Congenital malformation CEP55 [HSA:55165] [KO:K16456]
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