PAFAH1B1 and Miller-Dieker Lissencephaly Syndrome: Association Evidence

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Provenance

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

PAFAH1B1

1 source summary

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

Miller-Dieker Lissencephaly Syndrome

13 database identifiers

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

Phenotype

60 clinical features

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

Mechanism overlap

2 shared pathways

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Literature

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Provenance

12 references

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