Hereditary Spastic Paraplegia - paediatric
Gene: AIMP1
Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated.
More than 10 families reported.Created: 13 Mar 2021, 2:23 a.m. | Last Modified: 13 Mar 2021, 2:23 a.m.
Panel Version: 0.162
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 3, MIM# 260600
Publications
Gene: aimp1 has been classified as Green List (High Evidence).
Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 to Leukodystrophy, hypomyelinating, 3, MIM#260600
Publications for gene: AIMP1 were set to
gene: AIMP1 was added gene: AIMP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600