Distal arthrogrypose type 6
Engelsk navn: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Engelske synonym: Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome,Distal arthrogryposis type 6
Definisjon
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
Fra Orphanet
ORPHA: 1144
Klassifiseringsnivå: Disorder
ICD-10: Q68.8