OBO ID: DOID:0081124
Term Name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 Search Ontology:
Synonyms:
Definition: A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. https://pubmed.ncbi.nlm.nih.gov/24194475/
References:
Ontology: Human Disease   (DOID:0081124)
OTHER craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMCO1 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 213980
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None