ZFIN Human Disease: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

OBO ID: DOID:0111403

Term Name:	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations		Search Ontology:
Synonyms:	MCCCHCM
Definition:	A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. https://www.ncbi.nlm.nih.gov/pubmed/30449657
References:	OMIM:618273
Ontology:	Human Disease ( DOID:0111403 )

Relationships

is a type of:	autosomal dominant disease syndromic intellectual disability autosomal dominant disease syndromic intellectual disability Show first 5 Terms

OTHER mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MAST1	mast1b mast1a	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	618273

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None