OBO ID: DOID:0081236
Term Name: autosomal recessive intellectual developmental disorder 77 Search Ontology:
Synonyms:
Definition: An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/34196201/
References:
Ontology: Human Disease   ( DOID:0081236 )
OTHER autosomal recessive intellectual developmental disorder 77 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP104 Intellectual developmental disorder, autosomal recessive 77 619988
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None