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