Disease

syndromic X-linked intellectual disability type 10

Definition

A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.

Synonyms

HSD10 deficiency, atypical type
HSD10 disease, atypical type

Cross References

Parent Terms

syndromic X-linked intellectual disability

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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