dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterized 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:0021147
disorder of development or morphogenesis
is_a