ALS11
MCID: AMY083
MIFTS: 39

Amyotrophic Lateral Sclerosis 11 (ALS11)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Amyotrophic Lateral Sclerosis 11

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 11:

Name: Amyotrophic Lateral Sclerosis 11 57 12 20 72 13 70
Amyotrophic Lateral Sclerosis Type 11 12 20 29 6 15
Als11 57 12 20 72
Sclerosis, Lateral, Amyotrophic, Type Type 11 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
average age of onset 56 years
median disease duration 2.6 years (two patients had disease duration greater than 20 years)


HPO:

31
amyotrophic lateral sclerosis 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060202
OMIM® 57 612577
OMIM Phenotypic Series 57 PS105400
MeSH 44 D000690
MedGen 41 C2675491
SNOMED-CT via HPO 68 263681008 74035001 86044005
UMLS 70 C2675491

Summaries for Amyotrophic Lateral Sclerosis 11

UniProtKB/Swiss-Prot : 72 Amyotrophic lateral sclerosis 11: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary : Amyotrophic Lateral Sclerosis 11, also known as amyotrophic lateral sclerosis type 11, is related to spinal muscular atrophy with lower extremity predominance and amyotrophic lateral sclerosis 20. An important gene associated with Amyotrophic Lateral Sclerosis 11 is FIG4 (FIG4 Phosphoinositide 5-Phosphatase), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and superpathway of inositol phosphate compounds. Affiliated tissues include spinal cord, skeletal muscle and bone, and related phenotypes are skeletal muscle atrophy and bulbar signs

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the FIG4 gene on chromosome 6.

More information from OMIM: 612577 PS105400

Related Diseases for Amyotrophic Lateral Sclerosis 11

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 16, Juvenile Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 12
Amyotrophic Lateral Sclerosis Type 14 Amyotrophic Lateral Sclerosis Type 15
Amyotrophic Lateral Sclerosis Type 22 Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy with lower extremity predominance 10.3 VAPB SETX
2 amyotrophic lateral sclerosis 20 10.2 FIG4 ALS2
3 proximal spinal muscular atrophy 10.2 VAPB SETX
4 distal hereditary motor neuronopathy type 7 10.2 TARDBP ALS2
5 amyotrophic lateral sclerosis 19 10.1 TARDBP ALS2
6 developmental and epileptic encephalopathy 53 10.1 SYNJ1 FIG4
7 amyotrophic lateral sclerosis type 22 10.1 TARDBP FUS
8 neuronopathy, distal hereditary motor, type viib 10.1 TARDBP ALS2
9 ideomotor apraxia 10.1 TARDBP FUS
10 pica disease 10.1 TARDBP FUS
11 parkinson disease 20, early-onset 10.1 SYNJ1 FIG4
12 locked-in syndrome 10.1 TARDBP FUS
13 spastic paraplegia 57, autosomal recessive 10.1 SPG11 ALS2
14 spastic paraplegia 7, autosomal recessive 10.0 SPG11 SETX
15 yunis-varon syndrome 10.0 SYNJ1 INPP5B FIG4
16 progressive bulbar palsy 10.0 VAPB SETX FUS ALS2
17 semantic dementia 10.0 TARDBP CHMP2B
18 prosopagnosia 10.0 TARDBP CHMP2B
19 spastic paraplegia 4, autosomal dominant 9.9 SPG11 ALS2
20 lowe oculocerebrorenal syndrome 9.9 SYNJ2 SYNJ1 INPP5B
21 giant axonal neuropathy 2 9.9 TARDBP OPTN FUS
22 multisystem proteinopathy 9.9 TARDBP OPTN FUS
23 amyotrophic lateral sclerosis type 5 9.9 VAPB SPG11 SETX ALS2
24 dyscalculia 9.9 TARDBP CHMP2B
25 spinal muscular atrophy 9.9 VAPB TARDBP SETX FUS
26 muscular atrophy 9.9 VAPB TARDBP SETX FUS
27 neuromuscular disease 9.8 TARDBP FUS FIG4 ALS2
28 amyotrophic lateral sclerosis 21 9.8 VAPB SETX FUS FIG4 ALS2
29 mutism 9.8 TARDBP CHMP2B
30 charcot-marie-tooth disease, type 4j 9.8 SYNJ2 SYNJ1 INPP5B FIG4
31 juvenile amyotrophic lateral sclerosis 9.8 SPG11 SETX FUS ALS2
32 perry syndrome 9.8 TARDBP CHMP2B
33 associative agnosia 9.8 TARDBP FUS CHMP2B
34 nominal aphasia 9.8 TARDBP FUS CHMP2B
35 dysgraphia 9.8 TARDBP FUS CHMP2B
36 writing disorder 9.8 TARDBP FUS CHMP2B
37 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 9.8 TARDBP FUS CHMP2B
38 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 9.8 TARDBP SYNJ2 INPP5B FUS
39 alzheimer disease 7 9.8 VAPB TARDBP OPTN FUS
40 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.8 TARDBP FUS CHMP2B
41 supranuclear palsy, progressive, 1 9.8 TARDBP FUS CHMP2B
42 dermatopathia pigmentosa reticularis 9.8 TARDBP FUS
43 dementia, lewy body 9.7 TARDBP FUS CHMP2B
44 speech and communication disorders 9.7 TARDBP FUS CHMP2B
45 autosomal dominant cerebellar ataxia 9.7 TARDBP SETX FUS
46 amyotrophic lateral sclerosis 7 9.7 SPG11 SETX CHMP2B ALS2
47 movement disease 9.7 TARDBP FUS CHMP2B
48 charcot-marie-tooth disease, axonal, type 2e 9.7 SYNJ2 SPG11 INPP5B FIG4 ALS2
49 charcot-marie-tooth disease 9.6 SYNJ1 SPG11 SETX FIG4 ALS2
50 frontotemporal dementia 9.6 TARDBP OPTN FUS CHMP2B

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 11:



Diseases related to Amyotrophic Lateral Sclerosis 11

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 11

Human phenotypes related to Amyotrophic Lateral Sclerosis 11:

31
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 31 HP:0003202
2 bulbar signs 31 HP:0002483
3 upper motor neuron dysfunction 31 HP:0002493
4 amyotrophic lateral sclerosis 31 HP:0007354

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
bulbar signs
denervation seen on emg
prominent corticospinal tract pathology
pseudobulbar affect

Muscle Soft Tissue:
atrophic fibers seen on biopsy (in 1 patient)

Clinical features from OMIM®:

612577 (Updated 20-May-2021)

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 11

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chewing Efficiency Measured by a Two Colour Chewing Gum Test: a Marker of Insufficient Nutritional Intakes and Percutaneous Gastrostomy (PEG) Necessity in ALS Patients? Completed NCT01772888

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 11

Genetic Tests for Amyotrophic Lateral Sclerosis 11

Genetic tests related to Amyotrophic Lateral Sclerosis 11:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 11 29 FIG4

Anatomical Context for Amyotrophic Lateral Sclerosis 11

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 11:

40
Spinal Cord, Skeletal Muscle, Bone, Brain

Publications for Amyotrophic Lateral Sclerosis 11

Articles related to Amyotrophic Lateral Sclerosis 11:

# Title Authors PMID Year
1
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. 6 57
19118816 2009
2
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. 6
28051077 2017
3
Ultrasonographic diaphragm thickness correlates with compound muscle action potential amplitude and forced vital capacity. 61
26357011 2016
4
[Prolonged artificial ventilation of the lungs in nervous system diseases]. 61
8754163 1996

Variations for Amyotrophic Lateral Sclerosis 11

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 11:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FIG4 NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) SNV Pathogenic 1723 rs121908288 GRCh37: 6:110056402-110056402
GRCh38: 6:109735199-109735199
2 FIG4 FIG4, IVS11DS, G-T, +5 SNV Pathogenic 1727 GRCh37:
GRCh38:
3 FIG4 NM_014845.5(FIG4):c.157G>T (p.Asp53Tyr) SNV Pathogenic 1728 rs121908290 GRCh37: 6:110036371-110036371
GRCh38: 6:109715168-109715168
4 FIG4 NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) SNV Pathogenic 420149 rs776005417 GRCh37: 6:110059618-110059618
GRCh38: 6:109738415-109738415
5 FIG4 NM_014845.5(FIG4):c.262C>T (p.Arg88Ter) SNV Pathogenic 355036 rs753207473 GRCh37: 6:110037744-110037744
GRCh38: 6:109716541-109716541
6 FIG4 NM_014845.6(FIG4):c.1150del (p.Arg384fs) Deletion Pathogenic 802256 rs1583695322 GRCh37: 6:110081462-110081462
GRCh38: 6:109760259-109760259
7 FIG4 NM_014845.6(FIG4):c.1038_1039del (p.Leu347fs) Deletion Pathogenic 1029314 GRCh37: 6:110064474-110064475
GRCh38: 6:109743271-109743272
8 FIG4 NM_014845.5(FIG4):c.759del (p.Phe254fs) Deletion Pathogenic 254668 rs764717219 GRCh37: 6:110059638-110059638
GRCh38: 6:109738435-109738435
9 FIG4 NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) SNV Conflicting interpretations of pathogenicity 254671 rs150301327 GRCh37: 6:110106223-110106223
GRCh38: 6:109785020-109785020
10 FIG4 NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) SNV Conflicting interpretations of pathogenicity 1721 rs121908287 GRCh37: 6:110036336-110036336
GRCh38: 6:109715133-109715133
11 FIG4 NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) SNV Conflicting interpretations of pathogenicity 407082 rs138048706 GRCh37: 6:110062705-110062705
GRCh38: 6:109741502-109741502
12 FIG4 NM_014845.5(FIG4):c.1271+5A>G SNV Uncertain significance 663445 rs374583399 GRCh37: 6:110081591-110081591
GRCh38: 6:109760388-109760388
13 FIG4 NM_014845.5(FIG4):c.2558C>T (p.Ser853Leu) SNV Uncertain significance 254672 rs774805375 GRCh37: 6:110146302-110146302
GRCh38: 6:109825099-109825099
14 FIG4 NM_014845.5(FIG4):c.919G>A (p.Asp307Asn) SNV Uncertain significance 254669 rs573441014 GRCh37: 6:110064355-110064355
GRCh38: 6:109743152-109743152
15 FIG4 NM_014845.5(FIG4):c.1619C>T (p.Thr540Ile) SNV Uncertain significance 254670 rs1057519386 GRCh37: 6:110087967-110087967
GRCh38: 6:109766764-109766764
16 FIG4 NC_000006.12:g.109691284C>A SNV Uncertain significance 904574 GRCh37: 6:110012487-110012487
GRCh38: 6:109691284-109691284
17 FIG4 NM_014845.5(FIG4):c.109C>T (p.Arg37Cys) SNV Uncertain significance 543424 rs368625871 GRCh37: 6:110036323-110036323
GRCh38: 6:109715120-109715120
18 FIG4 NM_014845.5(FIG4):c.205C>T (p.Arg69Cys) SNV Uncertain significance 587490 rs540674198 GRCh37: 6:110037687-110037687
GRCh38: 6:109716484-109716484
19 FIG4 NM_014845.6(FIG4):c.1482C>T (p.Asn494=) SNV Uncertain significance 904721 GRCh37: 6:110086263-110086263
GRCh38: 6:109765060-109765060
20 FIG4 NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) SNV Uncertain significance 694988 rs201375273 GRCh37: 6:110146296-110146296
GRCh38: 6:109825093-109825093
21 FIG4 NM_014845.6(FIG4):c.1889+9C>T SNV Uncertain significance 905509 GRCh37: 6:110098272-110098272
GRCh38: 6:109777069-109777069
22 FIG4 NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) SNV Uncertain significance 216681 rs200970494 GRCh37: 6:110146311-110146311
GRCh38: 6:109825108-109825108
23 FIG4 NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) SNV Uncertain significance 905581 GRCh37: 6:110146434-110146434
GRCh38: 6:109825231-109825231
24 FIG4 NM_014845.6(FIG4):c.2096+3A>G SNV Uncertain significance 906020 GRCh37: 6:110107655-110107655
GRCh38: 6:109786452-109786452
25 FIG4 NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) SNV Uncertain significance 907037 GRCh37: 6:110112620-110112620
GRCh38: 6:109791417-109791417
26 FIG4 NM_014845.6(FIG4):c.2546+5G>C SNV Uncertain significance 907038 GRCh37: 6:110118059-110118059
GRCh38: 6:109796856-109796856
27 FIG4 NM_014845.5(FIG4):c.1272-10C>G SNV Uncertain significance 355039 rs201293291 GRCh37: 6:110083284-110083284
GRCh38: 6:109762081-109762081
28 FIG4 NM_014845.5(FIG4):c.-134C>G SNV Uncertain significance 355026 rs560811735 GRCh37: 6:110012505-110012505
GRCh38: 6:109691302-109691302
29 FIG4 NM_014845.5(FIG4):c.2547-4A>G SNV Uncertain significance 355048 rs886060985 GRCh37: 6:110146287-110146287
GRCh38: 6:109825084-109825084
30 FIG4 NM_014845.5(FIG4):c.-138T>C SNV Uncertain significance 355025 rs550585093 GRCh37: 6:110012501-110012501
GRCh38: 6:109691298-109691298
31 FIG4 NM_014845.5(FIG4):c.1793T>A (p.Phe598Tyr) SNV Uncertain significance 355041 rs751399063 GRCh37: 6:110098167-110098167
GRCh38: 6:109776964-109776964
32 FIG4 NM_014845.5(FIG4):c.243A>G (p.Lys81=) SNV Uncertain significance 355035 rs200257799 GRCh37: 6:110037725-110037725
GRCh38: 6:109716522-109716522
33 FIG4 NM_014845.5(FIG4):c.2547-11A>G SNV Uncertain significance 355046 rs745613994 GRCh37: 6:110146280-110146280
GRCh38: 6:109825077-109825077
34 FIG4 NM_014845.5(FIG4):c.235G>A (p.Gly79Arg) SNV Uncertain significance 355034 rs886060982 GRCh37: 6:110037717-110037717
GRCh38: 6:109716514-109716514
35 FIG4 NM_014845.5(FIG4):c.-112G>A SNV Uncertain significance 355031 rs757848529 GRCh37: 6:110012527-110012527
GRCh38: 6:109691324-109691324
36 FIG4 NM_014845.5(FIG4):c.-124A>G SNV Uncertain significance 355028 rs544958043 GRCh37: 6:110012515-110012515
GRCh38: 6:109691312-109691312
37 FIG4 NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) SNV Uncertain significance 234661 rs372846619 GRCh37: 6:110112598-110112598
GRCh38: 6:109791395-109791395
38 FIG4 NM_014845.5(FIG4):c.-132A>G SNV Uncertain significance 355027 rs548471516 GRCh37: 6:110012507-110012507
GRCh38: 6:109691304-109691304
39 FIG4 NM_014845.5(FIG4):c.-84A>G SNV Uncertain significance 355032 rs764845399 GRCh37: 6:110012555-110012555
GRCh38: 6:109691352-109691352
40 FIG4 NM_014845.5(FIG4):c.2096G>A (p.Arg699His) SNV Uncertain significance 355043 rs750091928 GRCh37: 6:110107652-110107652
GRCh38: 6:109786449-109786449
41 FIG4 NM_014845.5(FIG4):c.2460A>C (p.Arg820Ser) SNV Uncertain significance 355045 rs886060984 GRCh37: 6:110117968-110117968
GRCh38: 6:109796765-109796765
42 FIG4 NM_014845.5(FIG4):c.2223G>T (p.Thr741=) SNV Likely benign 355044 rs181012139 GRCh37: 6:110112621-110112621
GRCh38: 6:109791418-109791418
43 FIG4 NM_014845.5(FIG4):c.1863C>A (p.Thr621=) SNV Likely benign 355042 rs201744761 GRCh37: 6:110098237-110098237
GRCh38: 6:109777034-109777034
44 FIG4 NM_014845.5(FIG4):c.350C>T (p.Ala117Val) SNV Likely benign 355037 rs551339249 GRCh37: 6:110048372-110048372
GRCh38: 6:109727169-109727169
45 FIG4 NM_014845.5(FIG4):c.2547-5T>G SNV Likely benign 355047 rs200267243 GRCh37: 6:110146286-110146286
GRCh38: 6:109825083-109825083
46 FIG4 NM_014845.5(FIG4):c.1584-8T>A SNV Likely benign 260446 rs199522051 GRCh37: 6:110087924-110087924
GRCh38: 6:109766721-109766721
47 FIG4 NM_014845.5(FIG4):c.33G>C (p.Ser11=) SNV Likely benign 389842 rs527523781 GRCh37: 6:110012671-110012671
GRCh38: 6:109691468-109691468
48 FIG4 NM_014845.5(FIG4):c.2097-10C>G SNV Likely benign 260448 rs142482745 GRCh37: 6:110110787-110110787
GRCh38: 6:109789584-109789584
49 FIG4 NM_014845.5(FIG4):c.2568G>T (p.Ser856=) SNV Likely benign 355049 rs140055056 GRCh37: 6:110146312-110146312
GRCh38: 6:109825109-109825109
50 FIG4 NM_014845.5(FIG4):c.640G>A (p.Gly214Arg) SNV Benign 543496 rs529048339 GRCh37: 6:110056495-110056495
GRCh38: 6:109735292-109735292

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 11:

72
# Symbol AA change Variation ID SNP ID
1 FIG4 p.Asp53Tyr VAR_054832 rs121908290

Expression for Amyotrophic Lateral Sclerosis 11

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 11.

Pathways for Amyotrophic Lateral Sclerosis 11

GO Terms for Amyotrophic Lateral Sclerosis 11

Cellular components related to Amyotrophic Lateral Sclerosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.36 VAPB TARDBP SYNJ2 SYNJ1 SPG11 SETX

Biological processes related to Amyotrophic Lateral Sclerosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gene expression GO:0010467 9.46 TARDBP FUS
2 cell death GO:0008219 9.43 OPTN ALS2
3 endosome organization GO:0007032 9.4 CHMP2B ALS2
4 synaptic vesicle endocytosis GO:0048488 9.37 SYNJ2 SYNJ1
5 phosphatidylinositol biosynthetic process GO:0006661 9.33 SYNJ2 SYNJ1 FIG4
6 phosphatidylinositol metabolic process GO:0046488 9.32 SYNJ1 FIG4
7 synaptic vesicle transport GO:0048489 9.26 SYNJ1 SPG11
8 inositol phosphate dephosphorylation GO:0046855 9.13 SYNJ2 SYNJ1 INPP5B
9 phosphatidylinositol dephosphorylation GO:0046856 8.92 SYNJ2 SYNJ1 INPP5B FIG4

Molecular functions related to Amyotrophic Lateral Sclerosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3-phosphatase activity GO:0004438 9.37 SYNJ1 FIG4
2 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.32 SYNJ1 INPP5B
3 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 9.26 SYNJ1 FIG4
4 phosphatidylinositol phosphate 5-phosphatase activity GO:0034595 9.16 SYNJ2 SYNJ1
5 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.13 SYNJ2 SYNJ1 INPP5B
6 phosphoric ester hydrolase activity GO:0042578 8.8 SYNJ2 SYNJ1 FIG4

Sources for Amyotrophic Lateral Sclerosis 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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