Genopathy
Gene-Disorder Association · Article
Gene
DEL1Q41Q42
Chromosome 1q41-Q42 Deletion Syndrome
Disorder
Chromosome 1q41-Q42 Deletion Syndrome
First reported 1994
Key publication · disorder Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation.Clinical dysmorphology · 1994
Manually curated
Association Review

In brief

The association between DEL1Q41Q42 (Chromosome 1q41-Q42 Deletion Syndrome) and Chromosome 1q41-Q42 Deletion Syndrome is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 70
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
Chromosome 1q41-Q42 Deletion Syndrome

The disorder

10 database identifiers

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

Request access
04
Phenotype

Clinical features

60 clinical features

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

Request access
05
Provenance

References & sources

4 references

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

Request access