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| Regression v0.246 | AIMP1 | Zornitza Stark Marked gene: AIMP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.246 | AIMP1 | Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.246 | AIMP1 | Zornitza Stark Classified gene: AIMP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.246 | AIMP1 | Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.245 | AIMP1 |
Zornitza Stark gene: AIMP1 was added gene: AIMP1 was added to Regression. Sources: Expert Review Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP1 were set to 21092922; 24958424; 33402283; 32531460; 30486714; 30477741 Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, MIM# 260600 Review for gene: AIMP1 was set to GREEN Added comment: 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. Neurodegeneration is a feature. Sources: Expert Review |
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