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autosomal recessive amelia

Disease Summary
Associated Targets ()

Mondo Description Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.
Mondo Term and Equivalent IDs
MONDO:0011054:  autosomal recessive amelia