POMT1 and Microcephaly: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

POMT1

Protein O-Mannosyltransferase 1

Disorder

Microcephaly

First reported 2006

Supporting publications 2

Key publication · gene–disorder The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.Human mutation · 2006

Key publication · disorder [Diffuse symmetric calcification in a syndrome including microcephaly and meningoencephalitis].Archiv fur Psychiatrie und Nervenkrankheiten, vereinigt mit Zeitschrift fur die gesamte Neurologie und Psychiatrie · 1950

Manually curated

Association Review

In brief

The association between POMT1 (Protein O-Mannosyltransferase 1) and Microcephaly is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 0

Compounds 0

Trials 0

Publications 2

01

At a glance

Association overview

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

02

Provenance

Evidence and sources

1 source

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

03

POMT1

The gene

1 source summary

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

04

Microcephaly

The disorder

7 database identifiers

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

05

Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

06

Provenance

References & sources

4 references

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