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bilateral microtia-deafness-cleft palate syndrome

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.
Uniprot Description Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule.
Mondo Term and Equivalent IDs
MONDO:0012854:  bilateral microtia-deafness-cleft palate syndrome
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found