leukodystrophy, hypomyelinating, 21
MONDO:0030263Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 21 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
- Infantile onset
HPO, annotations 2026-09-02
Features
23 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.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients · Childhood onset
- Corpus callosum atrophyHPOHP:0007371
- 2 of 2 reported patients · Childhood onset
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 2 reported patients
- Growth delayHPOHP:0001510
- 2 of 2 reported patients
- Mental deteriorationHPOHP:0001268
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Motor regressionHPOHP:0033044
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
Show the remaining 11
- Absent speechHPOHP:0001344
- 1 of 2 reported patients
- AthetosisHPOHP:0002305
- 1 of 2 reported patients
- ComaHPOHP:0001259
- 1 of 2 reported patients · Juvenile onset
- Delayed ability to sitHPOHP:0025336
- 1 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- DyskinesiaHPOHP:0100660
- 1 of 2 reported patients
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.
- POLR3KHGNC:14121
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · ClinGen · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: leukodystrophy, hypomyelinating, 21
- Also called
- HLD21