DISEASES

Disease-gene associations mined from literature

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