OBO ID: DOID:0081212
Term Name: autosomal recessive intellectual developmental disorder 48 Search Ontology:
Synonyms:
Definition: An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. https://pubmed.ncbi.nlm.nih.gov/25704603/
References:
Ontology: Human Disease   ( DOID:0081212 )
OTHER autosomal recessive intellectual developmental disorder 48 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC6A17 Intellectual developmental disorder, autosomal recessive 48 616269
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None