Targeted syndrom under study
HPDL / OMIM 619026 / OMIM 619027
Bi-allelic variations of HPDL gene are involved in 2 neurodevelopmental disorders, spastic paraplegia type 83 (SPG 83, OMIM 619027) and a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA, OMIM 619026).
As less than 50 patients have been described worldwide, we would like to identify more patients with bi-allelic HPDL variants.
Dr Elodie LACAZE – firstname.lastname@example.org
Unité de génétique médicale, Groups Hospitalier du Havre, Le Havre, France
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: Not for the moment