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Disease - Heimler syndrome 2

Definition

A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities.

Acronym

HMLR2

Synonyms

PBD4C
Peroxisome biogenesis disorder 4C

Keywords

› Deafness
› Peroxisome biogenesis disorder
› Amelogenesis imperfecta

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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