leukodystrophy, hypomyelinating, 18
MONDO:0032730Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Delayed speech and language developmentHPOHP:0000750
- 19 of 19 reported patients
- Global developmental delayHPOHP:0001263
- 19 of 19 reported patients
- SpasticityHPOHP:0001257
- 18 of 19 reported patients · Infantile onset
- Absent speechHPOHP:0001344
- 13 of 19 reported patients
- Failure to thriveHPOHP:0001508
- 12 of 18 reported patients
- NystagmusHPOHP:0000639
- 12 of 19 reported patients · Infantile onset
- SeizureHPOHP:0001250
- 12 of 19 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 8 of 19 reported patients
- Abnormal motor nerve conduction velocityHPOHP:0040131
- 5 of 12 reported patients
- Secondary microcephalyHPOHP:0005484
- 3 of 17 reported patients
- Feeding difficultiesHPOHP:0011968
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.
- DEGS1HGNC:13709
- Definitive · ClinGen · Autosomal recessive · 2026
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Illumina · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
4 names
Resolves to: leukodystrophy, hypomyelinating, 18
- Also called
- DEGS1-HLDDEGS1-related hypomyelinating leukodystrophyHLD18hypomyelinating leukodystrophy 18