Term Name: Ritscher-Schinzel syndrome 1
Synonyms:
Definition: A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.
Ontology: Human Disease [DOID:0060571]   ( DOID:0060571 )

Relationships
is a type of: autosomal recessive disease Ritscher-Schinzel syndrome