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Human Disease

autosomal recessive intellectual developmental disorder 77

Term ID
DOID:0081236
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models