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 MAST1 on chromosome 19p13.13. https://www.ncbi.nlm.nih.gov/pubmed/30449657
References:
Ontology: Human Disease   (DOID:0111403)
OTHER mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 618273
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None