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Human Disease

autosomal recessive intellectual developmental disorder 66

Term ID
DOID:0081227
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
Ontology
Human Disease   ( DOID:0081227 )
Relationships
is a type of
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Genes Involved
Zebrafish Models