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Article

UBE2A-related X-linked intellectual disability.

Clinical dysmorphology - 1 Jan 2019

Stevenson Roger E, Chudley Albert E, Srivastava Anand K, Rodriguez Jayson, Friez Michael J, Schwartz Charles E

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30179896
DOI: 10.1097/MCD.0000000000000242
PMCID: PMC6279472

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