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Schinzel type phocomelia
Summary
- Synonym
-
- AARRS
- Al Awadi-Raas-Rothschild syndrome
- Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
- LPHAS
- Schinzel phocomelia syndrome
- absence of ulna and fibula with severe limb deficiency
- aplasia/hypoplasia of limbs and pelvis
- congenital absence of ulna and fibula
- limb/pelvis-hypoplasia/aplasia 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112181
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
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