leukodystrophy, hypomyelinating, 22
MONDO:0025701Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
21 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.
- AstigmatismHPOHP:0000483
- 3 of 3 reported patients
- Babinski signHPOHP:0003487
- 3 of 3 reported patients
- Borderline intellectual disabilityHPOHP:0006889
- 3 of 3 reported patients
- CNS hypomyelinationHPOHP:0003429
- 3 of 3 reported patients
- Delayed ability to sitHPOHP:0025336
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- DroolingHPOHP:0002307
- 3 of 3 reported patients
- DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- Flexion contractureHPOHP:0001371
- 3 of 3 reported patients
- HypermetropiaHPOHP:0000540
- 3 of 3 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 3 of 3 reported patients
Show the remaining 9
- Lower limb hypertoniaHPOHP:0006895
- 3 of 3 reported patients
- NystagmusHPOHP:0000639
- 3 of 3 reported patients
- StrabismusHPOHP:0000486
- 3 of 3 reported patients
- Upper limb hypertoniaHPOHP:0200049
- 3 of 3 reported patients
- Inability to walkHPOHP:0002540
- 2 of 3 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 3 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.
- CLDN11HGNC:8514
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · ClinGen · Autosomal dominant · 2026
Where it sits
- A kind of
Other names
1 name
Resolves to: leukodystrophy, hypomyelinating, 22
- Also called
- HLD22