Disease

syndromic X-linked intellectual disability Turner type

Definition

A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22.

Synonyms

Brooks-Wisniewski-Brown syndrome
mental retardation and macrocephaly syndrome

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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