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limb/pelvis-hypoplasia/aplasia syndrome (LPHAS); absence of ulna & fibula with severe limb deficiency
Pathology:
- limb-malformation disorder
- various degrees of limb aplasia/hypoplasia & joint dysplasia
Genetics:
- associated with defects in WNT7A
Related
Fuhrmann syndrome; fibular aplasia or hypoplasia femoral bowing & poly- syn- & oligodactyly
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 276820
References
OMIM :accession 276820