New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes.
J P
JP
Fryns
S
S
Aftimos
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005625:Frontal Lobe / Q000002:abnormalities / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009333:Neck / Q000002:abnormalities; D009558:Nipples / Q000002:abnormalities; D013577:Syndrome