OBO ID: DOID:0081206
Term Name: autosomal recessive intellectual developmental disorder 41 Search Ontology:
Synonyms:
Definition: An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/25847626/
References:
Ontology: Human Disease   ( DOID:0081206 )
OTHER autosomal recessive intellectual developmental disorder 41 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KPTN Intellectual developmental disorder, autosomal recessive 41 615637
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None