Genopathy
Gene-Disorder Association · Article
Gene
RPN2
Ribophorin II
Disorder
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
First reported 2009
Key publication · disorder Tracing the impact of the Andean uplift on Neotropical plant evolution.Proceedings of the National Academy of Sciences of the United States of America · 2009
Manually curated
Association Review

In brief

The association between RPN2 (Ribophorin II) and Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 31
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
RPN2

The gene

1 source summary

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

Request access
04
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome

The disorder

4 database identifiers

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

Request access
05
Phenotype

Clinical features

30 clinical features

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

Request access
06
Provenance

References & sources

5 references

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

Request access