leukodystrophy, hypomyelinating, 20
MONDO:0033657Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Elevated brain choline level by MRSHPOHP:0012706
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HirsutismHPOHP:0001007
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
Show the remaining 8
- IrritabilityHPOHP:0000737
- 1 of 1 reported patient
- Progressive microcephalyHPOHP:0000253
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Punctate periventricular T2 hyperintense fociHPOHP:0030081
- 1 of 1 reported patient
- Reduced brain N-acetyl aspartate level by MRSHPOHP:0012708
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CNPHGNC:2158
- Limited · Ambry Genetics · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: leukodystrophy, hypomyelinating, 20
- Also called
- HLD20