Deafness Enamel Hypoplasia Nail Defects

Common Name(s)

Deafness Enamel Hypoplasia Nail Defects

Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, {214100}), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities ({4:Ratbi et al., 2015}). Genetic Heterogeneity of Heimler Syndrome Another form of Heimler syndrome (HMLR2; {616617}) is caused by mutation in the PEX6 gene ({601498}) on chromosome 6p21.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Deafness Enamel Hypoplasia Nail Defects" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.