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Entry | Name | Description | Category | Pathway | Gene |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |