ZFIN Human Disease: autosomal recessive intellectual developmental disorder 66

OBO ID: DOID:0081227

Term Name:	autosomal recessive intellectual developmental disorder 66		Search Ontology:
Synonyms:
Definition:	An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. https://pubmed.ncbi.nlm.nih.gov/27311568/
References:	OMIM:618221
Ontology:	Human Disease ( DOID:0081227 )

Relationships

is a type of:	autosomal recessive intellectual developmental disorder autosomal recessive intellectual developmental disorder Show first 5 Terms

OTHER autosomal recessive intellectual developmental disorder 66 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
C12orf4	zgc:154077	Intellectual developmental disorder, autosomal recessive 66	618221

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None