"A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia.
De Ravel
T J L
TJ
Dillen
K
K
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000473:pathology*; D001827:Body Height; D019066:Facies; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D012168:Retinal Pigments / Q000378:metabolism*; D035781:Siblings; D013577:Syndrome; D013921:Thrombocytopenia / Q000473:pathology*
D012168:Retinal Pigments