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

Term ID

DOID:0080327

Synonyms

• MARCH

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. https://www.ncbi.nlm.nih.gov/pubmed/?term=28264986

References

• MIM:236500

Ontology

Human Disease   ( DOID:0080327 )