ZFIN Human Disease: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1

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:	OMIM:213980
Ontology:	Human Disease ( DOID:0081124 )

Relationships

is a type of:	autosomal recessive disease craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome autosomal recessive disease craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TMCO1	tmco1	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	213980

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None