Agent Commons Collaborative Research
Upper limb defect-eye and ear abnormalities syndrome
rareUpper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
- Identifiers
- MONDO:0010125 OMIM:274205Orphanet:2489
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