Adult-onset autosomal dominant demyelinating leukodystrophy
diseaseOn this page
Also known as ADLDadult-onset autosomal dominant leukodystrophyautosomal dominant adult-onset demyelinating leukodystrophyautosomal dominant leukodystrophy with autonomic diseaseleukodystrophy, adult-onset, autosomal dominantleukodystrophy, demyelinating, ADULT-onset, autosomal dominantmultiple sclerosis-like disorder
Summary
Adult-onset autosomal dominant demyelinating leukodystrophy (MONDO:0008215) is a disease caused by LMNB1 (GenCC Strong), with 2 cohort genes and 2 clinical trials.
At a glance
- Prevalence: (Worldwide) [Orphanet-validated]
- Causal gene: LMNB1 (GenCC Strong)
- Cohort genes: 2
- ClinVar variants: 54
- Phenotypes (HPO): 61
- Clinical trials: 2
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 20 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Not yet validated |
Signs & symptoms
Clinical features (HPO)
61 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001251 | Ataxia | Very frequent (80-99%) |
| HP:0012332 | Abnormal autonomic nervous system physiology | Very frequent (80-99%) |
| HP:0001257 | Spasticity | Frequent (30-79%) |
| HP:0001288 | Gait disturbance | Frequent (30-79%) |
| HP:0001324 | Muscle weakness | Frequent (30-79%) |
| HP:0001337 | Tremor | Frequent (30-79%) |
| HP:0001347 | Hyperreflexia | Frequent (30-79%) |
| HP:0002066 | Gait ataxia | Frequent (30-79%) |
| HP:0002493 | Upper motor neuron dysfunction | Frequent (30-79%) |
| HP:0002936 | Distal sensory impairment | Frequent (30-79%) |
| HP:0003487 | Babinski sign | Frequent (30-79%) |
| HP:0005341 | Autonomic bladder dysfunction | Frequent (30-79%) |
| HP:0006827 | Atrophy of the spinal cord | Frequent (30-79%) |
| HP:0006958 | Abnormal auditory evoked potentials | Frequent (30-79%) |
| HP:0007256 | Abnormal pyramidal sign | Frequent (30-79%) |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | Frequent (30-79%) |
| HP:0007377 | Abnormality of somatosensory evoked potentials | Frequent (30-79%) |
| HP:0011931 | Abnormality of the cerebellar peduncle | Frequent (30-79%) |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | Frequent (30-79%) |
| HP:0000010 | Recurrent urinary tract infections | Occasional (5-29%) |
| HP:0000012 | Urinary urgency | Occasional (5-29%) |
| HP:0000016 | Urinary retention | Occasional (5-29%) |
| HP:0000496 | Abnormality of eye movement | Occasional (5-29%) |
| HP:0000639 | Nystagmus | Occasional (5-29%) |
| HP:0000802 | Impotence | Occasional (5-29%) |
| HP:0000970 | Anhidrosis | Occasional (5-29%) |
| HP:0001260 | Dysarthria | Occasional (5-29%) |
| HP:0001276 | Hypertonia | Occasional (5-29%) |
| HP:0001278 | Orthostatic hypotension | Occasional (5-29%) |
| HP:0001310 | Dysmetria | Occasional (5-29%) |
| HP:0001371 | Flexion contracture | Occasional (5-29%) |
| HP:0002015 | Dysphagia | Occasional (5-29%) |
| HP:0002019 | Constipation | Occasional (5-29%) |
| HP:0002045 | Hypothermia | Occasional (5-29%) |
| HP:0002064 | Spastic gait | Occasional (5-29%) |
| HP:0002075 | Dysdiadochokinesis | Occasional (5-29%) |
| HP:0002080 | Intention tremor | Occasional (5-29%) |
| HP:0002169 | Clonus | Occasional (5-29%) |
| HP:0002200 | Pseudobulbar signs | Occasional (5-29%) |
| HP:0002273 | Tetraparesis | Occasional (5-29%) |
| HP:0002345 | Action tremor | Occasional (5-29%) |
| HP:0002599 | Head titubation | Occasional (5-29%) |
| HP:0003326 | Myalgia | Occasional (5-29%) |
| HP:0004302 | Functional motor deficit | Occasional (5-29%) |
| HP:0004395 | Malnutrition | Occasional (5-29%) |
| HP:0005968 | Temperature instability | Occasional (5-29%) |
| HP:0006886 | Impaired distal vibration sensation | Occasional (5-29%) |
| HP:0007351 | Upper limb postural tremor | Occasional (5-29%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Occasional (5-29%) |
| HP:0007369 | Atrophy/Degeneration affecting the cerebrum | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | adult-onset autosomal dominant demyelinating leukodystrophy |
| Mondo ID | MONDO:0008215 |
| MeSH | C566813 |
| OMIM | 169500 |
| Orphanet | 99027 |
| DOID | DOID:0051015, DOID:0060785 |
| SNOMED CT | 448054001 |
| UMLS | C1868512 |
| MedGen | 356995 |
| GARD | 0010587 |
| Is cancer (heuristic) | no |
Also known as: ADLD · adult-onset autosomal dominant demyelinating leukodystrophy · adult-onset autosomal dominant leukodystrophy · autosomal dominant adult-onset demyelinating leukodystrophy · autosomal dominant leukodystrophy with autonomic disease · leukodystrophy, adult-onset, autosomal dominant · leukodystrophy, demyelinating, ADULT-onset, autosomal dominant · multiple sclerosis-like disorder
Data availability: 54 ClinVar variants · 3 GenCC gene-disease records.
Disease family
An umbrella term covering 2 Mondo subtypes.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal duplication › partial trisomy/tetrasomy of chromosome 5 › partial trisomy of the long arm of chromosome 5 › adult-onset autosomal dominant demyelinating leukodystrophy
Related subtypes (2): 5q35 microduplication syndrome, distal trisomy 5q
Subtypes (2): leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical, leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
54 retrieved; paginated sample, class counts are floors:
23 uncertain significance, 18 benign, 8 conflicting classifications of pathogenicity, 3 benign/likely benign, 1 pathogenic, 1 likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1342147 | NC_000005.10:g.126508361_126769360del | ALDH7A1 | Pathogenic | criteria provided, single submitter |
| 1366654 | NM_005573.4(LMNB1):c.1306G>A (p.Ala436Thr) | LMNB1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 350615 | NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) | LMNB1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 350617 | NM_005573.4(LMNB1):c.1190G>A (p.Arg397His) | LMNB1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 905851 | NM_005573.4(LMNB1):c.*54A>T | LMNB1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 905854 | NM_005573.4(LMNB1):c.*284T>G | LMNB1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 907306 | NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys) | LMNB1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 907308 | NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) | LMNB1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 976612 | NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn) | LMNB1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1032338 | NM_005573.4(LMNB1):c.360-8T>C | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 1803279 | NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys) | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 2420729 | NM_005573.4(LMNB1):c.1528C>T (p.Pro510Ser) | LMNB1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2582601 | NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile) | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 2585444 | NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter) | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 3065585 | NM_005573.4(LMNB1):c.89T>A (p.Leu30His) | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 3391068 | NM_005573.4(LMNB1):c.1400G>T (p.Gly467Val) | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 350610 | NM_005573.4(LMNB1):c.-159C>G | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 350618 | NM_005573.4(LMNB1):c.1387-3T>C | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 350626 | NM_005573.4(LMNB1):c.*629G>A | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 350627 | NM_005573.4(LMNB1):c.*629G>C | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 905852 | NM_005573.4(LMNB1):c.*189T>G | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 905853 | NM_005573.4(LMNB1):c.*270T>C | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 906293 | NM_005573.4(LMNB1):c.-76G>T | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 906362 | NM_005573.4(LMNB1):c.*301T>C | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 906363 | NM_005573.4(LMNB1):c.*631G>A | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 906364 | NM_005573.4(LMNB1):c.*634A>G | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 906365 | NM_005573.4(LMNB1):c.*640G>A | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 907307 | NM_005573.4(LMNB1):c.775C>T (p.Leu259=) | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 907309 | NM_005573.4(LMNB1):c.987T>C (p.Ala329=) | LMNB1 | Uncertain significance | criteria provided, single submitter |
| 907310 | NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) | LMNB1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 10 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| LMNB1 | Strong | Autosomal dominant | adult-onset autosomal dominant demyelinating leukodystrophy | 10 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| LMNB1 | Orphanet:2514 | Autosomal dominant primary microcephaly |
| LMNB1 | Orphanet:99027 | Adult-onset autosomal dominant leukodystrophy |
| ALDH7A1 | Orphanet:3006 | Pyridoxine-dependent-developmental and epileptic encephalopathy |
Cohort genes → proteins
2 cohort genes, 2 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| LMNB1 | HGNC:6637 | ENSG00000113368 | P20700 | Lamin-B1 | gencc,clinvar |
| ALDH7A1 | HGNC:877 | ENSG00000164904 | P49419 | Alpha-aminoadipic semialdehyde dehydrogenase | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| LMNB1 | Lamin-B1 | Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane. |
| ALDH7A1 | Alpha-aminoadipic semialdehyde dehydrogenase | Aldehyde dehydrogenase enzyme that mediates important protective effects. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Enzyme (other) | 1 | 6.0× | 0.320 |
| Other/Unknown | 1 | 0.9× | 0.805 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| LMNB1 | Other/Unknown | no | Lamin_tail_dom, IF_conserved, Lamin_tail_dom_sf | |
| ALDH7A1 | Enzyme (other) | yes | 1.2.1.3 | Aldehyde_DH_dom, Ald_DH/histidinol_DH, Ald_DH_N |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| ventricular zone | 2 |
| embryo | 1 |
| ganglionic eminence | 1 |
| left ovary | 1 |
| right lobe of liver | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| LMNB1 | 226 | ubiquitous | marker | ventricular zone, ganglionic eminence, embryo |
| ALDH7A1 | 255 | ubiquitous | marker | right lobe of liver, ventricular zone, left ovary |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| LMNB1 | 5,226 |
| ALDH7A1 | 4,544 |
Structural data
PDB: 2 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| ALDH7A1 | P49419 | 20 |
| LMNB1 | P20700 | 7 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 44. Enrichment computed across 2 evidence-associated genes (2 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Breakdown of the nuclear lamina | 1 | 1903.3× | 0.014 | LMNB1 |
| Choline catabolism | 1 | 713.8× | 0.014 | ALDH7A1 |
| Lysine catabolism | 1 | 571.0× | 0.014 | ALDH7A1 |
| Neurodegenerative Diseases | 1 | 439.2× | 0.014 | LMNB1 |
| Depolymerization of the Nuclear Lamina | 1 | 380.7× | 0.014 | LMNB1 |
| Defective Intrinsic Pathway for Apoptosis | 1 | 380.7× | 0.014 | LMNB1 |
| Formation of Senescence-Associated Heterochromatin Foci (SAHF) | 1 | 335.9× | 0.014 | LMNB1 |
| Diseases of programmed cell death | 1 | 317.2× | 0.014 | LMNB1 |
| Initiation of Nuclear Envelope (NE) Reformation | 1 | 300.5× | 0.014 | LMNB1 |
| Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer’s disease models | 1 | 259.6× | 0.014 | LMNB1 |
| Apoptotic cleavage of cellular proteins | 1 | 237.9× | 0.014 | LMNB1 |
| Interleukin-12 family signaling | 1 | 237.9× | 0.014 | LMNB1 |
| Apoptotic execution phase | 1 | 237.9× | 0.014 | LMNB1 |
| Nuclear Envelope Breakdown | 1 | 228.4× | 0.014 | LMNB1 |
| Interleukin-12 signaling | 1 | 203.9× | 0.014 | LMNB1 |
| Mitotic Prophase | 1 | 184.2× | 0.015 | LMNB1 |
| Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation | 1 | 150.3× | 0.016 | LMNB1 |
| Nuclear Envelope (NE) Reassembly | 1 | 146.4× | 0.016 | LMNB1 |
| Meiosis | 1 | 142.8× | 0.016 | LMNB1 |
| RHOF GTPase cycle | 1 | 129.8× | 0.017 | LMNB1 |
| RHOD GTPase cycle | 1 | 102.0× | 0.020 | LMNB1 |
| Reproduction | 1 | 95.2× | 0.021 | LMNB1 |
| Apoptosis | 1 | 84.0× | 0.022 | LMNB1 |
| DNA Damage/Telomere Stress Induced Senescence | 1 | 81.6× | 0.022 | LMNB1 |
| Programmed Cell Death | 1 | 73.2× | 0.024 | LMNB1 |
| Meiotic synapsis | 1 | 70.5× | 0.024 | LMNB1 |
| Cellular Senescence | 1 | 68.8× | 0.024 | LMNB1 |
| Mitotic Metaphase and Anaphase | 1 | 48.4× | 0.031 | LMNB1 |
| Mitotic Anaphase | 1 | 48.4× | 0.031 | LMNB1 |
| Metabolism of amino acids and derivatives | 1 | 33.8× | 0.043 | ALDH7A1 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| L-lysine catabolic process | 1 | 8426.0× | 0.001 | ALDH7A1 |
| negative regulation of endosome to plasma membrane protein transport | 1 | 8426.0× | 0.001 | ALDH7A1 |
| obsolete glycine betaine biosynthetic process from choline | 1 | 4213.0× | 0.001 | ALDH7A1 |
| choline catabolic process | 1 | 2106.5× | 0.002 | ALDH7A1 |
| nuclear pore localization | 1 | 1685.2× | 0.002 | LMNB1 |
| negative regulation of Golgi to plasma membrane protein transport | 1 | 1404.3× | 0.002 | ALDH7A1 |
| obsolete lysine catabolic process | 1 | 1203.7× | 0.002 | ALDH7A1 |
| protein localization to nuclear envelope | 1 | 1053.2× | 0.002 | LMNB1 |
| plasma membrane to endosome transport | 1 | 766.0× | 0.003 | ALDH7A1 |
| aldehyde metabolic process | 1 | 648.1× | 0.003 | ALDH7A1 |
| Golgi to endosome transport | 1 | 526.6× | 0.003 | ALDH7A1 |
| nuclear envelope organization | 1 | 495.6× | 0.003 | LMNB1 |
| negative regulation of ferroptosis | 1 | 401.2× | 0.003 | ALDH7A1 |
| nuclear migration | 1 | 366.4× | 0.004 | LMNB1 |
| endosome to lysosome transport | 1 | 168.5× | 0.007 | ALDH7A1 |
| energy homeostasis | 1 | 135.9× | 0.008 | ALDH7A1 |
| heterochromatin formation | 1 | 127.7× | 0.008 | LMNB1 |
| sensory perception of sound | 1 | 50.5× | 0.020 | ALDH7A1 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 1
Druggability breadth: 2 of 2 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| LMNB1 | 1 | 2 |
| ALDH7A1 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| MOLIBRESIB | 2 | LMNB1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| LMNB1 | 7 | Binding:7 |
| ALDH7A1 | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| ALDH7A1 | 1.2.1.3, 1.2.1.31 | aldehyde dehydrogenase (NAD+), L-aminoadipate-semialdehyde dehydrogenase |
Pharmacogenomics
Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
1 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| MOLIBRESIB | 2 | LMNB1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 1 | LMNB1 |
| C | Druggable family + PDB, no drug | 1 | ALDH7A1 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| ALDH7A1 | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03047369 | Not specified | RECRUITING | The Myelin Disorders Biorepository Project |
| NCT02699190 | Not specified | COMPLETED | LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies |