Term Name: autosomal recessive intellectual developmental disorder 41
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.
Ontology: Human Disease [DOID:0081206]   ( DOID:0081206 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder