Megalocornea-mental retardation syndrome: report of a new case.
Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.
Barisić
I
I
Department of Medical Genetics, Children's Hospital Zagreb, Croatia.
Ligutić
I
I
Zergollern
L
L
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000503:physiopathology*