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metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0009599:  metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
GARD:0003566: 
MESH:C565396: 
Orphanet:2502: 
UMLS:C1855175: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found