Disease & disorder

congenital myopathy 3 with rigid spine

MONDO:0100100

Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.

Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms17

Research intelligence

Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

Medications under investigation

Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.

Loading mapped interventions…

MONDO disease family

Loading verified ontology relationships…

Recruiting studies by city

Loading research-site locations…

Trial status

Loading…

Trial phase

Loading…

Study start year

Loading…

Investigated drug interventions

Loading…

Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.