OBO ID: DOID:0081234
Term Name: autosomal recessive intellectual developmental disorder 75 Search Ontology:
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 )
OTHER autosomal recessive intellectual developmental disorder 75 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIDD1 Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 619827
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None