Genopathy
Gene-Disorder Association · Article
Gene
EHMT1
Euchromatic Histone Lysine Methyltransferase 1
Disorder
Lissencephaly, X-Linked, 2
First reported 1981
Key publication · disorder [Two new cases of triploidy in premature liveborn infants (author's transl)].La Pediatria medica e chirurgica : Medical and surgical pediatrics · 1981
Manually curated
Association Review

In brief

The association between EHMT1 (Euchromatic Histone Lysine Methyltransferase 1) and Lissencephaly, X-Linked, 2 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 71
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
EHMT1

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Lissencephaly, X-Linked, 2

The disorder

13 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

41 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Provenance

References & sources

8 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access