ZFIN Human Disease: microcephaly and chorioretinopathy 1

OBO ID: DOID:0080105

Term Name:	microcephaly and chorioretinopathy 1		Search Ontology:
Synonyms:
Definition:	A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. https://www.ncbi.nlm.nih.gov/pubmed/25344692
References:	OMIM:251270
Ontology:	Human Disease ( DOID:0080105 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TUBGCP6	tubgcp6	Microcephaly and chorioretinopathy, autosomal recessive, 1	251270

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None