Disease & disorder

DONSON-related microcephaly-short stature-limb abnormalities spectrum

MONDO:0035534

A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.

Clinical trials0
Recruiting0
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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.

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MONDO disease family

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Drugs being studied

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