ZFIN Human Disease: multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly

OBO ID: DOID:0080327

Term Name:	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly		Search Ontology:
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:	OMIM:236500
Ontology:	Human Disease ( DOID:0080327 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

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

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CEP55	cep55l	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	236500

ZEBRAFISH MODELS

Fish	Conditions	Citations
cep55l^uy25/uy25	standard conditions	Yanagi et al., 2019

PHENOTYPE No data available

CITATIONS (1)