LSM7-related leukodystrophy and cerebellar atrophy
MONDO:0978294Mondo
Findings
No curated finding names LSM7-related leukodystrophy and cerebellar atrophy 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
- Third trimester onset
HPO, annotations 2026-09-02
Features
27 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.
- Age-inappropriate oppositional behaviorHPOHP:0010865
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- ApraxiaHPOHP:0002186
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- EncephaloceleHPOHP:0002084
- 1 of 1 reported patient
- Extrapyramidal dyskinesiaHPOHP:0007308
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Increased nuchal translucencyHPOHP:0010880
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
Show the remaining 15
- JaundiceHPOHP:0000952
- 1 of 1 reported patient
- LeukodystrophyHPOHP:0002415
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Postural instabilityHPOHP:0002172
- 1 of 1 reported patient
- Premature birthHPOHP:0001622
- 1 of 1 reported patient
- Respiratory distressHPOHP:0002098
- 1 of 1 reported patient
Where it sits
- A kind of