autosomal recessive intellectual developmental disorder 48

Term ID

DOID:0081212

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

• OMIM:616269

Ontology

Human Disease   ( DOID:0081212 )