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DO Term : multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly [DOID:0080327] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:236500,
  • MARCH,
  • 236500
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