Disease

multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly

Definition

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

MARCH

Cross References

MIM:236500

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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