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Links from OMIM

Items: 3

1.

Chromosome Xq28 duplication syndrome

The int22h1/int22h2-mediated Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of neurobehavioral abnormalities, and variable facial dysmorphic features. Affected males also exhibit a peculiar combination of recurrent sinopulmonary infections and atopy, findings that have not been observed in affected females. All males reported to date with the syndrome have moderate-to-severe intellectual disability; in contrast, a minority of heterozygous females have been reported to have mild intellectual disability, while the majority have no discernible health or learning issues and are considered clinically unaffected. [from GeneReviews]

MedGen UID:
411727
Concept ID:
C2749007
Disease or Syndrome
2.

Intellectual disability, X-linked 72

MedGen UID:
375793
Concept ID:
C1846038
Mental or Behavioral Dysfunction
3.

Early-onset parkinsonism-intellectual disability syndrome

Waisman syndrome (WSMN) is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by Wilson et al., 2014). [from OMIM]

MedGen UID:
208674
Concept ID:
C0796195
Disease or Syndrome
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