UBE2A-related X-linked intellectual disability.
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ABSTRACT:
SUBMITTER: Stevenson RE
PROVIDER: S-EPMC6279472 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Publications
UBE2A-related X-linked intellectual disability.
Stevenson Roger E RE Chudley Albert E AE Srivastava Anand K AK Rodriguez Jayson J Friez Michael J MJ Schwartz Charles E CE
Clinical dysmorphology 20190101 1
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 ...[more]
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