Kleefstra syndrome 1

rare

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.

Identifiers: MONDO:0027407 OMIM:610253
Causal genes: EHMT1
Part of: Kleefstra syndrome Congenital nervous system disorder Intellectual disability, autosomal dominant

Subtypes

Disease	ID	Subtypes
Kleefstra syndrome due to 9q34 microdeletion	MONDO:0019896

Rare disease

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