Upper limb defect-eye and ear abnormalities syndrome

MONDO:0010125

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.

Also known as: thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness

0 clinical trials for this condition and its sub-types, 0 tagged with Upper limb defect-eye and ear abnormalities syndrome itself.

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Including sub-types (0) Tagged with Upper limb defect-eye and ear abnormalities syndrome (0)

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