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otofaciocervical syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.
Uniprot Description A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0014254:  otofaciocervical syndrome 2
UMLS:C3714942: