metachromatic leukodystrophy due to saposin B deficiency
MONDO:0009590Mondo
Findings
No curated finding names metachromatic leukodystrophy due to saposin B deficiency 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
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.
- Decreased nerve conduction velocityHPOHP:0000762
- 2 of 2 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased CSF protein concentrationHPOHP:0002922
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- Motor deteriorationHPOHP:0002333
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Peripheral demyelinationHPOHP:0011096
- 2 of 2 reported patients
- Peripheral neuropathyHPOHP:0009830
- 1 of 1 reported patient
- PolyneuropathyHPOHP:0001271
- 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.
- PSAPHGNC:9498
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: metachromatic leukodystrophy due to saposin B deficiency
- Also called
- metachromatic leukodystrophy due to sap-B deficiency