PHARC Syndrome, a Rare Genetic Disorder-Case Report

Mov Disord Clin Pract. 2021 Jul 9;8(6):977-979. doi: 10.1002/mdc3.13266. eCollection 2021 Aug.

Paulo André Dias Bastos^{1

2}, Marcelo Mendonça^{2

3

4}, Tânia Lampreia⁵, Marta Magriço², Jorge Oliveira⁶, Raquel Barbosa^{2

3}

¹ NOVA Medical School, Faculdade de Ciências Médicas Universidade Nova de Lisboa Lisbon Portugal.
² Department of Neurology, Hospital de Egas Moniz Centro Hospitalar de Lisboa Ocidental Lisbon Portugal.
³ CEDOC-NOVA Medical School, Faculdade de Ciências Médicas Universidade Nova de Lisboa Lisbon Portugal.
⁴ Champalimaud Research, Champalimaud Centre for the Unknown Lisbon Portugal.
⁵ Department of Neurology Hospital Beatriz Ângelo Lisbon Portugal.
⁶ Center for Predictive and Preventive Genetics (CGPP) Institute for Molecular and Cell Biology (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto Porto Portugal.

No abstract available

Keywords: ABHD12; PHARC; ataxia; deaf‐blindness; polyneuropathy.