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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-03-2013
Location Xq
Name chromosome Xq deletions in males
Corresponding gene UBE2A
Main clinical features del Xq24 including UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck (PMID: 21108393))
  • microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay, PMID: 22065534
  • Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability, PMID: 23520119
  • Genetic determination
    Function/system disorder
    Type MCA/MR