Term Name: | Schinzel type phocomelia |
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Synonyms: | AARRS, absence of ulna and fibula with severe limb deficiency, Al Awadi-Raas-Rothschild syndrome, Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome, aplasia/hypoplasia of limbs and pelvis, congenital absence of ulna and fibula, limb/pelvis-hypoplasia/aplasia syndrome, LPHAS, Schinzel phocomelia syndrome, severe limb deficit |
Definition: | A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. |
Ontology: | Human Disease [DOID:0112181] ( DOID:0112181 ) |