Disease & disorder

cranioectodermal dysplasia 2

MONDO:0013323

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.

Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms6

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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Recruiting studies by city

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Background context

Sensenbrenner syndrome

Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) ciliopathy first described by Judith A. Sensenbrenner in 1975. It is inherited in an autosomal recessive fashion, and is caused by a loss of function mutation in one of three genes: IFT122, IFT43, and WDR35. It is also known as Sensenbrenner–Dorst–Owens syndrome, Levin syndrome I and cranioectodermal dysplasia (CED)

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

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