Genopathy
Gene-Disorder Association · Article
Gene
MRT30
Mental Retardation, Autosomal Recessive 30
Disorder
Intellectual Developmental Disorder, Autosomal Recessive 30
First reported 1978
Key publication · disorder The Coffin-Siris syndrome: five new cases including two siblings.American journal of diseases of children (1960) · 1978
Manually curated
Association Review

In brief

The association between MRT30 (Mental Retardation, Autosomal Recessive 30) and Intellectual Developmental Disorder, Autosomal Recessive 30 is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 12
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
Intellectual Developmental Disorder, Autosomal Recessive 30

The disorder

6 database identifiers

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

Request access
04
Phenotype

Clinical features

4 clinical features

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

Request access
05
Provenance

References & sources

2 references

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

Request access