hypomyelination with brain stem and spinal cord involvement and leg spasticity
MONDO:0014115Mondo
Findings
No curated finding names hypomyelination with brain stem and spinal cord involvement and leg spasticity 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 · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
19 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
- 10 of 10 reported patients
- Brisk reflexesHPOHP:0001348
- 10 of 10 reported patients
- Lower limb spasticityHPOHP:0002061
- 10 of 10 reported patients
- Axial hypotoniaHPOHP:0008936
- 8 of 10 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 8 of 10 reported patients
- CNS hypomyelinationHPOHP:0003429
- 5 of 9 reported patients
- NystagmusHPOHP:0000639
- 5 of 10 reported patients
- AtaxiaHPOHP:0001251
- 4 of 9 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 10 reported patients
- DysarthriaHPOHP:0001260
- 3 of 10 reported patients
- Motor delayHPOHP:0001270
- 3 of 10 reported patients
- Optic disc pallorHPOHP:0000543
- 3 of 10 reported patients
Show the remaining 7
- Spastic diplegiaHPOHP:0001264
- 3 of 10 reported patients
- IrritabilityHPOHP:0000737
- 2 of 10 reported patients
- SeizureHPOHP:0001250
- 2 of 10 reported patients
- Cherry red spot of the maculaHPOHP:0010729
- 1 of 10 reported patients
- Spina bifida occultaHPOHP:0003298
- 1 of 10 reported patients
- Tethered cordHPOHP:0002144
- 1 of 10 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.
- DARS1HGNC:2678
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: hypomyelination with brain stem and spinal cord involvement and leg spasticity
- Also called
- HBSL