Upper limb defect - eye and ear abnormalities
From BugSigDB
Upper 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.
- Aliases
- thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness
- upper limb defect-eye and ear abnormalities syndrome
