Leukodystrophy - paediatric
Gene: HPDL
Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Extensive MRI abnormalities described, primarily affecting white matter (white matter atrophy and deficient myelination), basal ganglia, thalamus and brainstem.
Sources: LiteratureCreated: 2 Oct 2020, 10:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome
Publications
Gene: hpdl has been classified as Green List (High Evidence).
Gene: hpdl has been classified as Green List (High Evidence).
gene: HPDL was added gene: HPDL was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome Review for gene: HPDL was set to GREEN