Genopathy
Gene-Disorder Association · Article
Gene
UNC13A
Unc-13 Homolog A
Disorder
Neurodevelopmental Disorder With Hypotonia, Epilepsy, And Absent Speech
First reported 2016
Key publication · disorder Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia.Neurology. Genetics · 2016
Manually curated
Association Review

In brief

The association between UNC13A (Unc-13 Homolog A) and Neurodevelopmental Disorder With Hypotonia, Epilepsy, And Absent Speech is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a known molecular basis.

Sources 1
Clinical variants 0
Symptoms 61
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
UNC13A

The gene

1 source summary

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

Request access
04
Neurodevelopmental Disorder With Hypotonia, Epilepsy, And Absent Speech

The disorder

3 database identifiers

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

Request access
05
Phenotype

Clinical features

1 clinical feature

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

Request access
06
Provenance

References & sources

2 references

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

Request access