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myopathy, congenital, with respiratory insufficiency and bone fractures - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, congenital, with respiratory insufficiency and bone fractures

MONDO:0032936

Also known as:MYORIBF

Overview

GeneticsAutosomal recessive · FXR1 (chr 3)

OnsetANTENATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Obstructive sleep apnea, Motor delay, and Neonatal hypotonia; and common findings: Short stature, Cryptorchidism, and Obesity. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Neonatal hypotonia, Tongue fasciculations, EMG: myopathic abnormalities

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FXR1 encodes FMR1 autosomal homolog 1 (621 aa). mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for various processes, such as neurogenesis, muscle development and spermatogenesis. Highest expression in Muscle Skeletal (96.3 TPM) and Testis (70.5 TPM).

Myopathy, congenital, with respiratory insufficiency and bone fractures is associated with mutations in the FXR1 gene on chromosome 3.

The FXR1 protein participates in FXR1(2-784)-p-BRAF(381-766) fusion and FXR1(2-784)-BRAF(381-766) fusion pathways.

FXR1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FXR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 3 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618822

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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myopathy, congenital, with respiratory insufficiency and bone fractures

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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