Mental retardation with pterygia, shortness and distinct facial appearance. Confirmation of a new MCA/MR syndrome.
Schrander-Stumpel
C
C
Department of Clinical Genetics, Academical Hospital, Maastricht State University of Limburg, The Netherlands.
Haspeslagh
M
M
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D011625:Pterygium / Q000235:genetics; D013577:Syndrome