Term Name:	rapadilino syndrome
Synonyms:
Definition:	A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
Ontology:	Human Disease [DOID:0050774]   ( DOID:0050774 )