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Human Disease

autosomal recessive intellectual developmental disorder 75

Term ID
DOID:0081234
Synonyms
Definition
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. https://pubmed.ncbi.nlm.nih.gov/34163010/
References
Ontology
Human Disease   ( DOID:0081234 )
Relationships
is a type of
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Genes Involved
Zebrafish Models