leukodystrophy, hypomyelinating, 10
Findings
No curated finding names leukodystrophy, hypomyelinating, 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014632), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
69 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.
- CNS hypomyelinationHPOHP:0003429
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Inability to walkHPOHP:0002540
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Reduced cerebral white matter volumeHPOHP:0034295
Show the remaining 57
- Progressive microcephalyHPOHP:0000253
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Bulbous noseHPOHP:0000414
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
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.
- PYCR2HGNC:30262
- Definitive · Illumina · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: leukodystrophy, hypomyelinating, 10
- Also called
- HLD10hypomyelinating leukodystrophy 10hypomyelinating leukodystrophy type 10leukodystrophy caused by mutation in PYCR2leukodystrophy, hypomyelinating, type 10PYCR2 leukodystrophyPYCR2-related microcephaly-progressive leukoencephalopathy