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Parkinson disease 19B, early-onset(PARK19B)

MedGen UID:
934769
Concept ID:
C4310802
Disease or Syndrome
Synonyms: PARK19B; PARKINSON DISEASE 19B, EARLY-ONSET
 
Monarch Initiative: MONDO:0800369
OMIM®: 608375; 615528

Definition

An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the DNAJC6 gene, encoding putative tyrosine-protein phosphatase auxilin. It is characterized by an onset of Parkinsonism between the third and fifth decades. Mutations(s) in DNAJC6, are also causative in PARK19A. [from NCI]

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