Term Name: autosomal recessive intellectual developmental disorder 48
Synonyms:
Definition: An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13.
Ontology: Human Disease [DOID:0081212]   ( DOID:0081212 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder