PCNA-related progressive neurodegenerative photosensitivity syndrome

Orpha code: 438134OMIM code: 615919

Definicja

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the <i>PCNA</i> gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Disease data
Klasyfikacja

Disease

Kod ORPHA
438134
Kod OMIM
615919
Kod ICD10
G11.3
Kod ICD11
-

No additional description.

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