Human genes for rapadilino syndrome
Rapadilino syndrome [DOID:0050774]
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.
Synonyms: rapadilino syndrome, DOID:0050774, rapadilino disease, rapadilino disorder, rapadilino syndromes
Linkouts: OMIM