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

MIM:616269

Ontology

Human Disease ( DOID:0081212 )

Relationships

is a type of: autosomal recessive intellectual developmental disorder

autosomal recessive intellectual developmental disorder Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models