Genopathy
Gene-Disorder Association · Article
Gene
COL4A4
Collagen Type IV Alpha 4 Chain
Disorder
Specific Language Impairment 5
First reported 1991
Key publication · disorder Causes and associations of severe and persistent specific speech and language disorders in children.Developmental medicine and child neurology · 1991
Association Review

In brief

The association between COL4A4 (Collagen Type IV Alpha 4 Chain) and Specific Language Impairment 5 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 10
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
COL4A4

The gene

1 source summary

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

Request access
04
Specific Language Impairment 5

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

5 clinical features

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

Request access
06
Provenance

References & sources

4 references

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

Request access