DISEASES

Disease-gene associations mined from literature

Human genes for multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly

Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly [DOID:0080327]

A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23.

Synonyms:  multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly,  DOID:0080327,  cerebellar hypoplasia and hydranencephaly multinucleated neurons, anhydramnios, renal dysplasia,  multinucleated neurons anhydramnios renal dysplasia cerebellar hypoplasia and hydranencephaly,  MARCH ...