Hereditary Spastic Paraplegia - paediatric
Gene: DDHD2
More than 10 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak.
Sources: Expert listCreated: 18 Apr 2020, 6:59 a.m. | Last Modified: 16 Mar 2021, 4:24 a.m.
Panel Version: 1.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 54, autosomal recessive, MIM# 615033
Publications
Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive, MIM# 615033 to Spastic paraplegia 54, autosomal recessive, MIM# 615033; MONDO:0014018
Gene: ddhd2 has been classified as Green List (High Evidence).
Gene: ddhd2 has been classified as Green List (High Evidence).
gene: DDHD2 was added gene: DDHD2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD2 were set to 23486545; 24482476; 23176823 Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, MIM# 615033 Review for gene: DDHD2 was set to GREEN