leukodystrophy, hypomyelinating, 16
MONDO:0054791Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
35 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.
- Delayed CNS myelinationHPOHP:0002188
- 4 of 4 reported patients
- NystagmusHPOHP:0000639
- 4 of 4 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 4 reported patients
- Brisk reflexesHPOHP:0001348
- 2 of 4 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 4 reported patients
- HypotoniaHPOHP:0001252
- 2 of 4 reported patients
- Intention tremorHPOHP:0002080
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 2 of 4 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 1 of 4 reported patients
- Absent speechHPOHP:0001344
- 1 of 4 reported patients
- ChoreoathetosisHPOHP:0001266
- 1 of 4 reported patients
Show the remaining 23
- Delayed ability to walkHPOHP:0031936
- 1 of 4 reported patients
- DysarthriaHPOHP:0001260
- 1 of 4 reported patients
- DysmetriaHPOHP:0001310
- 1 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 4 reported patients
- Gaze-evoked nystagmusHPOHP:0000640
- 1 of 4 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.
- TMEM106BHGNC:22407
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2020
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of