craniofacial dysplasia - osteopenia syndrome
A disorder of development or morphogenesis caused by a variation in the IRX5 gene and characterized by craniofacial dysmorphism, including high-severity hypertelorism, severe myopia, upslanting palpebral fissures, brachycephaly, atypical ears, sloping shoulders, enamel hypoplasia, osteopenia with chronic fractures, sensorineural hearing loss, and intellectual disability/borderline intelligence.
MONDO:0003847
hereditary disease
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
Hamamy syndrome
exact
IRX5-related craniofacial dysostosis with osteopenia, intellectual disability, and dental anomalies
exact