Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000175:diagnosis*; D004487:Edema / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D008047:Lip Diseases / Q000175:diagnosis; D008297:Male; D012871:Skin Diseases / Q000175:diagnosis; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome