Human genes for ARC syndrome
ARC syndrome [DOID:0050763]
A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. It has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
Synonyms: ARC syndrome, ARC disease, ARC disorder, ARC syndromes, DOID:0050763 ...