Disease

severe congenital encephalopathy due to MECP2 mutation

Definition

A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.

Synonyms

neonatal severe encephalopathy due to MECP2 mutations
severe neonatal-onset encephalopathy with microcephaly

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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