Preferred Label : Johanson-Blizzard syndrome;
ICD-11 definition : 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.;
Origin ID : 1427330812;
Automatic exact mappings (from CISMeF team)
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.
