ZFIN Human Disease: Temtamy syndrome

OBO ID: DOID:0111621

Term Name:	Temtamy syndrome		Search Ontology:
Synonyms:	craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome dysmorphism, corpus callosum agenesis and colobomas Temtamy-Shalash syndrome
Definition:	A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. https://www.ncbi.nlm.nih.gov/pubmed/23453666
References:	GARD:5688 MESH:C536959 NCI:C148371 OMIM:218340 ORDO:1777 SNOMEDCT_US_2023_03_01:719947004 UMLS_CUI:C1857512
Ontology:	Human Disease ( DOID:0111621 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Temtamy syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
C12orf57	grcc10	Temtamy syndrome	218340

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None