craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1

Term ID

DOID:0081124

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

• OMIM:213980

Ontology

Human Disease   ( DOID:0081124 )