Disease

syndromic X-linked intellectual disability Najm type

Definition

A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.

Synonyms

mental retardation and microcephaly with pontine and cerebellar hypoplasia
MICPCH

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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