Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.
Aymé
S
S
Philip
N
N
D001827:Body Height; D002386:Cataract / Q000151:congenital*; D004314:Down Syndrome / Q000473:pathology*; D019066:Facies; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D013577:Syndrome