Disease - Omodysplasia 1
- DefinitionA rare autosomal recessive skeletal dysplasia characterized by facial dysmorphism and severe congenital micromelia with shortening and distal tapering of the humeri and femora, to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin.
- AcronymOMOD1
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Browse 1 entry- Glypican-6 · Gene: GPC6 · Homo sapiens (Human) · 555 amino acids · Evidence at protein level · Annotation score: 5/5