leukodystrophy, hypomyelinating, 17
MONDO:0054817Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 17 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
- Death in infancy · Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
23 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.
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 4 of 4 reported patients
- Growth delayHPOHP:0001510
- 4 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 4 reported patients
- Inability to walkHPOHP:0002540
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- Profound global developmental delayHPOHP:0012736
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 4 reported patients
- Flexion contractureHPOHP:0001371
- 2 of 4 reported patients
- Gingival overgrowthHPOHP:0000212
- 2 of 4 reported patients
- HirsutismHPOHP:0001007
- 2 of 4 reported patients
Show the remaining 11
- KyphoscoliosisHPOHP:0002751
- 2 of 4 reported patients
- Low hanging columellaHPOHP:0009765
- 2 of 4 reported patients
- Mandibular prognathiaHPOHP:0000303
- 2 of 4 reported patients
- Thick vermilion borderHPOHP:0012471
- 2 of 4 reported patients
- Widely spaced teethHPOHP:0000687
- 2 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- Cerebral atrophyHPO
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.
- AIMP2HGNC:20609
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · Illumina · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of