Disease - Heimler syndrome 1
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
HMLR1
Synonyms
Deafness enamel hypoplasia nail defects
Hearing loss, sensorineural, with enamel hypoplasia and nail defects
PBD1C
Peroxisome biogenesis disorder 1C
Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
Hearing loss, sensorineural, with enamel hypoplasia and nail defects
PBD1C
Peroxisome biogenesis disorder 1C
Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
Keywords
Disclaimer
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