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Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities

MedGen UID:
1052737
Concept ID:
CN377229
Disease or Syndrome
Synonym: neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
 
Gene (location): PTRHD1 (2p23.3)
 
Monarch Initiative: MONDO:0958323
OMIM®: 620747

Definition

Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades, although earlier onset has been reported. Some patients have seizures. There is inter- and intrafamilial variability (Kuipers et al., 2018; Al-Kasbi et al., 2021). [from OMIM]

Recent clinical studies

Etiology

Sumitomo A, Horike K, Hirai K, Butcher N, Boot E, Sakurai T, Nucifora FC Jr, Bassett AS, Sawa A, Tomoda T
Sci Adv 2018 Aug;4(8):eaar6637. Epub 2018 Aug 15 doi: 10.1126/sciadv.aar6637. PMID: 30116778Free PMC Article

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