leukodystrophy, hypomyelinating, 26, with chondrodysplasia
MONDO:0859518Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 26, with chondrodysplasia 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 · Antenatal onset
HPO, annotations 2026-09-02
Features
29 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 2 of 2 reported patients
- Absent speechHPOHP:0001344
- 1 of 2 reported patients
- Adducted thumbHPOHP:0001181
- 1 of 2 reported patients
- Advanced ossification of carpal bonesHPOHP:0004233
- 1 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 2 reported patients
- Cleft palateHPOHP:0000175
- 1 of 2 reported patients
- Coxa valgaHPOHP:0002673
- 1 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 2 reported patients
- Elbow dislocationHPOHP:0003042
- 1 of 2 reported patients
Show the remaining 17
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
- Flat faceHPOHP:0012368
- 1 of 2 reported patients
- GlossoptosisHPOHP:0000162
- 1 of 2 reported patients
- Horizontal nystagmusHPOHP:0000666
- 1 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 2 reported patients
- Hypoplastic cervical vertebraeHPOHP:0008434
- 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.
- SLC35B2HGNC:16872
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · G2P · Autosomal recessive · 2023
Where it sits
- A kind of