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
Peroxisome biogenesis disorder 4C
Keywords
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