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dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

Disease Summary
Associated Targets ()

Mondo Description Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0019102:  dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Orphanet:71267: 
SCTID:721089006: 
UMLS:CN205609: