Genopathy
Gene-Disorder Association · Article
Gene
FAM149B1
Family With Sequence Similarity 149 Member B1
Disorder
Ciliary Dyskinesia, Primary, 46
First reported 1994
Key publication · disorder Respiratory distress in a newborn with primary ciliary dyskinesia, situs inversus and Turner syndrome.Minerva pediatrica · 1994
Manually curated
Association Review

In brief

The association between FAM149B1 (Family With Sequence Similarity 149 Member B1) and Ciliary Dyskinesia, Primary, 46 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 15
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.

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02
Provenance

Evidence and sources

1 source

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

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03
FAM149B1

The gene

1 source summary

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

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04
Ciliary Dyskinesia, Primary, 46

The disorder

6 database identifiers

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

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05
Phenotype

Clinical features

9 clinical features

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

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06
Provenance

References & sources

4 references

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

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