HLD12
MCID: LKD023
MIFTS: 42

Leukodystrophy, Hypomyelinating, 12 (HLD12)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 12

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 12:

Name: Leukodystrophy, Hypomyelinating, 12 57 73 38
Hypomyelinating Leukodystrophy 12 11 28 5 14
Hld12 57 11 73
Vps11-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy 58
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy 58

Characteristics:


Inheritance:

Leukodystrophy, Hypomyelinating, 12: Autosomal recessive 57
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy: Autosomal recessive 58

Prevelance:

Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy: <1/1000000 (Worldwide) 58

Age Of Onset:

Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy: Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
increased frequency in ashkenazi jewish population


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Leukodystrophy, Hypomyelinating, 12

OMIM®: 57 Hypomyelinating leukodystrophy-12 (HLD12) is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. In a review of the pathogenesis of disorders with prominent dystonia or opisthotonic posturing as a feature, Monfrini et al. (2021) classified HLD12 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11. (616683) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 12, also known as hypomyelinating leukodystrophy 12, is related to pelizaeus-merzbacher disease and hypomyelinating leukodystrophy. An important gene associated with Leukodystrophy, Hypomyelinating, 12 is VPS11 (VPS11 Core Subunit Of CORVET And HOPS Complexes), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Beta-Adrenergic Signaling. Affiliated tissues include brain and peripheral nerve, and related phenotypes are intellectual disability and global developmental delay

Orphanet: 58 A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.

Disease Ontology: 11 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has material basis in homozygous mutation in the VPS11 gene on chromosome 11q23.

UniProtKB/Swiss-Prot: 73 An autosomal recessive neurologic disorder characterized by developmental delay, spasticity, truncal hypotonia, acquired microcephaly, intellectual disability with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination.

Related Diseases for Leukodystrophy, Hypomyelinating, 12

Diseases in the Hypomyelinating Leukodystrophy family:

Leukodystrophy, Hypomyelinating, 3 Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 5 Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 6 Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Hypomyelinating, 10 Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Hypomyelinating, 12 Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Hypomyelinating, 14 Leukodystrophy, Hypomyelinating, 15
Leukodystrophy, Hypomyelinating, 16 Leukodystrophy, Hypomyelinating, 17
Leukodystrophy, Hypomyelinating, 18 Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Hypomyelinating, 20 Leukodystrophy, Hypomyelinating, 21
Leukodystrophy, Hypomyelinating, 22 Leukodystrophy, Hypomyelinating, 24

Diseases related to Leukodystrophy, Hypomyelinating, 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 29.7 HYCC1 HIKESHI GJC2
2 hypomyelinating leukodystrophy 28.7 VPS11 PYCR2 HYCC1 HIKESHI GJC2 EIF2B1
3 leukodystrophy 27.3 VPS11 PYCR2 HYCC1 HIKESHI GJC2 EIF2B4
4 leukodystrophy, hypomyelinating, 3 10.0 HYCC1 GJC2
5 leukodystrophy, hypomyelinating, 11 10.0 HIKESHI EIF2B3
6 leukodystrophy, hypomyelinating, 5 10.0 HYCC1 GJC2
7 glycogen storage disease xv 9.9 EIF2B4 EIF2B3
8 megalencephalic leukoencephalopathy with subcortical cysts 1 9.8 GJC2 EIF2B1
9 megalencephalic leukoencephalopathy with subcortical cysts 9.8 GJC2 EIF2B1
10 spastic ataxia 4 9.7 EIF2B2 EIF2B1
11 leukoencephalopathy, hereditary diffuse, with spheroids 1 9.7 EIF2B4 EIF2B3
12 leukodystrophy, hypomyelinating, 6 9.6 PYCR2 GJC2 EIF2B1
13 leukodystrophy, hypomyelinating, 4 9.6 PYCR2 HYCC1 HIKESHI GJC2
14 mehmo syndrome 9.5 EIF2B4 EIF2B3 EIF2B2
15 hypomyelinating leukoencephalopathy 9.5 HYCC1 HIKESHI GJC2 EIF2B2
16 leukodystrophy, hypomyelinating, 9 9.4 HYCC1 HIKESHI GJC2 EIF2B4 EIF2B3
17 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 9.4 HYCC1 HIKESHI GJC2 EIF2B4 EIF2B3
18 spastic ataxia 8 9.3 PYCR2 HYCC1 HIKESHI EIF2B4 EIF2B3
19 childhood ataxia with central nervous system hypomyelination / vanishing white matter 9.3 EIF2B4 EIF2B3 EIF2B2 EIF2B1
20 hemangioma of intra-abdominal structure 9.3 EIF2B4 EIF2B3 EIF2B2 EIF2B1
21 combined saposin deficiency 9.3 EIF2B4 EIF2B3 EIF2B2 EIF2B1
22 cerebral degeneration 9.1 GJC2 EIF2B4 EIF2B3 EIF2B2 EIF2B1
23 leukoencephalopathy with vanishing white matter 9.1 GJC2 EIF2B4 EIF2B3 EIF2B2 EIF2B1
24 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 8.9 HIKESHI GJC2 EIF2B4 EIF2B3 EIF2B2 EIF2B1
25 leukodystrophy, hypomyelinating, 13 8.9 PYCR2 HYCC1 HIKESHI EIF2B4 EIF2B3 EIF2B2
26 leukodystrophy, hypomyelinating, 10 8.9 PYCR2 HYCC1 HIKESHI EIF2B4 EIF2B3 EIF2B2

Graphical network of the top 20 diseases related to Leukodystrophy, Hypomyelinating, 12:



Diseases related to Leukodystrophy, Hypomyelinating, 12

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 12

Human phenotypes related to Leukodystrophy, Hypomyelinating, 12:

58 30 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
3 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
4 cerebral visual impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100704
5 hypotonia 30 Hallmark (90%) HP:0001252
6 spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001257
7 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
8 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
9 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000648
10 absent speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0001344
11 growth delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001510
12 multiple joint contractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002828
13 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
14 hypoplasia of the corpus callosum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002079
15 poor speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0002465
16 neurogenic bladder 58 30 Frequent (33%) Frequent (79-30%)
HP:0000011
17 diffuse white matter abnormalities 58 30 Frequent (33%) Frequent (79-30%)
HP:0007204
18 abnormal periventricular white matter morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0002518
19 delayed cns myelination 58 30 Frequent (33%) Frequent (79-30%)
HP:0002188
20 oromotor apraxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0007301
21 abnormal autonomic nervous system physiology 30 Frequent (33%) HP:0012332
22 febrile seizure (within the age range of 3 months to 6 years) 30 Frequent (33%) HP:0002373
23 cerebellar atrophy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001272
24 seizure 58 Very frequent (99-80%)
25 dysautonomia 58 Frequent (79-30%)
26 coarse facial features 58 Excluded (0%)
27 hearing impairment 30 HP:0000365
28 flexion contracture 30 HP:0001371
29 developmental stagnation 30 HP:0007281
30 reduced visual acuity 30 HP:0007663
31 severe global developmental delay 30 HP:0011344
32 hepatosplenomegaly 58 Excluded (0%)
33 central hypotonia 58 Very frequent (99-80%)
34 cerebral hypomyelination 30 HP:0006808
35 focal impaired awareness seizure 30 HP:0002384
36 temperature instability 30 HP:0005968
37 delayed myelination 30 HP:0012448
38 febrile seizures 58 Frequent (79-30%)
39 secondary microcephaly 30 HP:0005484
40 axial hypotonia 30 HP:0008936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
intellectual disability
spasticity
delayed myelination
thin corpus callosum
autonomic dysfunction
more
Head And Neck Eyes:
optic atrophy
cortical visual impairment

Growth Other:
poor overall growth

Head And Neck Mouth:
oromotor dysfunction

Abdomen Gastrointestinal:
constipation
oromotor dysfunction

Head And Neck Ears:
hearing loss

Muscle Soft Tissue:
truncal hypotonia

Head And Neck Head:
microcephaly, acquired (up to -3 sd)

Clinical features from OMIM®:

616683 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:

25 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased OCT4 protein expression GR00184-A-2 10.41 EIF2B1 EIF2B2 EIF2B3 EIF2B4
2 Decreased OCT4 protein expression GR00184-A-5 10.41 EIF2B1 EIF2B2 EIF2B3 EIF2B4
3 Decreased OCT4 protein expression GR00184-A-7 10.41 EIF2B1 EIF2B2 EIF2B3 EIF2B4
4 Decreased NANOG protein expression GR00184-A-3 10.21 EIF2B1 EIF2B2 EIF2B3 EIF2B4
5 Decreased NANOG protein expression GR00184-A-6 10.21 EIF2B1 EIF2B2 EIF2B3 EIF2B4
6 Decreased NANOG protein expression GR00184-A-8 10.21 EIF2B1 EIF2B2 EIF2B3 EIF2B4
7 Decreased POU5F1-GFP protein expression GR00184-A-1 10.16 EIF2B1 EIF2B2 EIF2B3 EIF2B4
8 Decreased POU5F1-GFP protein expression GR00184-A-4 10.16 EIF2B1 EIF2B2 EIF2B3 EIF2B4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.77 EIF2B2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.77 EIF2B1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.77 EIF2B2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.77 PYCR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.77 EIF2B4 PYCR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.77 EIF2B2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.77 EIF2B2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.77 EIF2B1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.77 EIF2B1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.77 EIF2B4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.77 EIF2B1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.77 EIF2B1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.77 EIF2B1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.77 EIF2B4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.77 EIF2B4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.77 EIF2B2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.77 EIF2B2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.77 PYCR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.77 EIF2B1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.77 PYCR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.77 PYCR2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.77 PYCR2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.77 PYCR2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.77 EIF2B2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.77 EIF2B2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.77 EIF2B4
35 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.77 EIF2B1

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 12

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 12

Genetic Tests for Leukodystrophy, Hypomyelinating, 12

Genetic tests related to Leukodystrophy, Hypomyelinating, 12:

# Genetic test Affiliating Genes
1 Hypomyelinating Leukodystrophy 12 28 VPS11

Anatomical Context for Leukodystrophy, Hypomyelinating, 12

Organs/tissues related to Leukodystrophy, Hypomyelinating, 12:

MalaCards : Brain
ODiseA: Peripheral Nerve, Brain

Publications for Leukodystrophy, Hypomyelinating, 12

Articles related to Leukodystrophy, Hypomyelinating, 12:

# Title Authors PMID Year
1
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement. 57 5
27473128 2016
2
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. 57 5
27120463 2016
3
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients. 57 5
26307567 2015
4
PP1C and PP2A are p70S6K Phosphatases Whose Inhibition Ameliorates HLD12-Associated Inhibition of Oligodendroglial Cell Morphological Differentiation. 62 5
32316234 2020
5
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia. 57
33871597 2021

Variations for Leukodystrophy, Hypomyelinating, 12

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 12:

5 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VPS11 NM_021729.6(VPS11):c.1158_1184del (p.Leu387_Gly395del) DEL Pathogenic
1326861 GRCh37: 11:118944577-118944603
GRCh38: 11:119073867-119073893
2 VPS11 NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly) SNV Pathogenic/Likely Pathogenic
218366 rs34757931 GRCh37: 11:118951899-118951899
GRCh38: 11:119081189-119081189
3 VPS11 NM_021729.6(VPS11):c.2557A>G (p.Ser853Gly) SNV Uncertain Significance
635068 rs1565746289 GRCh37: 11:118951920-118951920
GRCh38: 11:119081210-119081210
4 VPS11 NM_021729.6(VPS11):c.2615_2620del (p.Arg872_Ala873del) DEL Uncertain Significance
976215 rs1945840205 GRCh37: 11:118951976-118951981
GRCh38: 11:119081266-119081271
5 VPS11 NM_021729.6(VPS11):c.367G>A (p.Gly123Ser) SNV Uncertain Significance
1029819 rs200887499 GRCh37: 11:118940182-118940182
GRCh38: 11:119069472-119069472
6 VPS11 NM_021729.6(VPS11):c.1085A>T (p.Glu362Val) SNV Uncertain Significance
1032881 rs1945475034 GRCh37: 11:118944108-118944108
GRCh38: 11:119073398-119073398
7 VPS11 NM_021729.6(VPS11):c.2384G>A (p.Arg795Gln) SNV Uncertain Significance
1032882 rs782494287 GRCh37: 11:118949956-118949956
GRCh38: 11:119079246-119079246
8 VPS11 NM_021729.6(VPS11):c.2806C>T (p.His936Tyr) SNV Uncertain Significance
1032883 rs368499558 GRCh37: 11:118952313-118952313
GRCh38: 11:119081603-119081603
9 VPS11 NM_021729.6(VPS11):c.2078T>C (p.Met693Thr) SNV Uncertain Significance
790365 rs146380141 GRCh37: 11:118949519-118949519
GRCh38: 11:119078809-119078809
10 VPS11 NM_021729.6(VPS11):c.1266C>T (p.Tyr422=) SNV Benign
1164301 GRCh37: 11:118947634-118947634
GRCh38: 11:119076924-119076924
11 VPS11 NM_021729.6(VPS11):c.1238+14C>T SNV Benign
1165119 GRCh37: 11:118944675-118944675
GRCh38: 11:119073965-119073965
12 VPS11 NM_021729.6(VPS11):c.486C>G (p.Gly162=) SNV Benign
1168494 GRCh37: 11:118940957-118940957
GRCh38: 11:119070247-119070247
13 VPS11 NM_021729.6(VPS11):c.1977C>T (p.Phe659=) SNV Benign
1684211 GRCh37: 11:118949328-118949328
GRCh38: 11:119078618-119078618
14 VPS11 NM_021729.6(VPS11):c.*38A>G SNV Benign
1684212 GRCh37: 11:118952371-118952371
GRCh38: 11:119081661-119081661
15 VPS11 NM_021729.6(VPS11):c.187+159A>G SNV Benign
1301765 GRCh37: 11:118938880-118938880
GRCh38: 11:119068169-119068169

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 12:

73
# Symbol AA change Variation ID SNP ID
1 VPS11 p.Cys846Gly VAR_076393

Expression for Leukodystrophy, Hypomyelinating, 12

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 12.

Pathways for Leukodystrophy, Hypomyelinating, 12

Pathways related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2
Show member pathways
12.32 EIF2B4 EIF2B3 EIF2B2 EIF2B1
3
Show member pathways
12.2 EIF2B4 EIF2B3 EIF2B2 EIF2B1
4
Show member pathways
11.91 EIF2B4 EIF2B3 EIF2B2 EIF2B1
5
Show member pathways
10.79 EIF2B4 EIF2B3 EIF2B2 EIF2B1

GO Terms for Leukodystrophy, Hypomyelinating, 12

Cellular components related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 eukaryotic translation initiation factor 2B complex GO:0005851 9.23 EIF2B4 EIF2B3 EIF2B2 EIF2B1

Biological processes related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 10.08 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 T cell receptor signaling pathway GO:0050852 10.01 EIF2B4 EIF2B3 EIF2B2 EIF2B1
3 response to glucose GO:0009749 9.97 EIF2B1 EIF2B2 EIF2B3 EIF2B4
4 translational initiation GO:0006413 9.92 EIF2B4 EIF2B3 EIF2B2 EIF2B1
5 myelination GO:0042552 9.91 HYCC1 EIF2B4 EIF2B2
6 response to peptide hormone GO:0043434 9.86 EIF2B4 EIF2B3 EIF2B2 EIF2B1
7 ovarian follicle development GO:0001541 9.8 EIF2B4 EIF2B2
8 translation GO:0006412 9.76 EIF2B4 EIF2B3 EIF2B2 EIF2B1
9 response to heat GO:0009408 9.76 EIF2B4 EIF2B3 EIF2B2 EIF2B1
10 oligodendrocyte development GO:0014003 9.56 EIF2B4 EIF2B3 EIF2B2 EIF2B1
11 cellular metabolic process GO:0044237 8.8 EIF2B4 EIF2B2 EIF2B1

Molecular functions related to Leukodystrophy, Hypomyelinating, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.56 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 translation initiation factor activity GO:0003743 9.23 EIF2B4 EIF2B3 EIF2B2 EIF2B1

Sources for Leukodystrophy, Hypomyelinating, 12

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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