leukodystrophy and acquired microcephaly with or without dystonia;
MONDO:0014766Mondo
Findings
No curated finding names leukodystrophy and acquired microcephaly with or without dystonia; 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
7 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.
- Generalized hypotoniaHPOHP:0001290
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 5 reported patients
- DystoniaHPOHP:0001332
- 3 of 5 reported patients
- NystagmusHPOHP:0000639
- 2 of 5 reported patients
- SeizureHPOHP:0001250
- 1 of 4 reported patients
- Diffuse white matter abnormalitiesHPOHP:0007204
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.
- PLEKHG2HGNC:29515
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Illumina · Autosomal recessive · 2021
Where it sits
- A kind of