Amyotrophic Lateral Sclerosis 2, Juvenile; Als2
Clinical Features
Top most frequent phenotypes and symptoms related to Amyotrophic Lateral Sclerosis 2, Juvenile; Als2
- Global developmental delay
- Microcephaly
- Ataxia
- Nystagmus
- Muscle weakness
- Spasticity
- Flexion contracture
- Hyperreflexia
- Dysarthria
- Skeletal muscle atrophy
And another 34 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Amyotrophic Lateral Sclerosis 2, Juvenile; Als2 Is also known as alsj, als, juvenile.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Amyotrophic Lateral Sclerosis 2, Juvenile; Als2 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 HSP, Comprehensive Evaluation.
By Athena Diagnostics Inc (United States).
RTN2, SACS, SPG11, ATL1, SPAST, SPG7, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
|
HSP, Supplemental Sporadic Evaluation.
By Athena Diagnostics Inc (United States).
RTN2, SACS, SPG11, ATL1, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A, L1CAM, KIF1A , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
|
Amyotrophic Lateral Sclerosis Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
6 %
Genes
100 % |
|
HSP, Supplemental Recessive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, PNPLA6, SPART, SPG21, FA2H, AP5Z1, CYP7B1, ALS2, KIF1A
Specificity
12 %
Genes
100 % |
|
HSP, Complete Recessive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, SPG11, SPG7, PNPLA6, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, CYP7B1, ALS2, KIF1A
Specificity
9 %
Genes
100 % |
|
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
7 %
Genes
100 % |
|
Hereditary Spastic Paraplegia Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
|
Amyotrophic Lateral Sclerosis.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
You can get up to 57 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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