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UBE2A-related X-linked intellectual disability

Stevenson, Roger E.a; Chudley, Albert E.b; Srivastava, Anand K.a; Rodriguez, Jaysona; Friez, Michael J.a; Schwartz, Charles E.a

doi: 10.1097/MCD.0000000000000242
ORIGINAL ARTICLES
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UBE2A-related X-linked intellectual disability is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual disability. Five affected males in two families are described here and compared with the previously reported 17 males in eight families. The new cases are notable for the absence of nail dystrophy, previously considered a defining manifestation, and for the presence of hypogammaglobulinemia and adult-onset ataxia.

aGreenwood Genetic Center, Greenwood, South Carolina, USA

bUniversity of Manitoba, Winnipeg, Manitoba, Canada

Correspondence to Roger E. Stevenson, MD, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA Tel: +1 864 941 8146; fax: +1 864 388 1707; e-mail: res@ggc.org

Received July 26, 2018

Accepted July 31, 2018

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