Johanson-Blizzard syndrome (Q83119)

Johanson-Blizzard syndrome encompasses a spectrum of clinical features but the hallmarks of the syndrome are hypoplastic alae nasi, dental anomalies, short stature, microcephaly, mental retardation, hypothyroidism, and deafness.

Language	Label	Description	Also known as
default for all languages	ID_1427330812
English	Johanson-Blizzard syndrome	Johanson-Blizzard syndrome encompasses a spectrum of clinical features but the hallmarks of the syndrome are hypoplastic alae nasi, dental anomalies, short stature, microcephaly, mental retardation, hypothyroidism, and deafness.