Robinows syndrom, autosomal dominant type
Engelsk navn: Autosomal dominant Robinow syndrome
Definisjon
The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
Fra Orphanet
ORPHA: 3107
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q87.1