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aphalangy-syndactyly-microcephaly syndrome

Disease Summary
Associated Targets ()

Mondo Description Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0010882:  aphalangy-syndactyly-microcephaly syndrome
GARD:0000748: 
MESH:C563942: 
Orphanet:1113: 
UMLS:C1838161: