retinal dystrophy with leukodystrophy
MONDO:0030026Mondo
Findings
No curated finding names retinal dystrophy with leukodystrophy 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
18 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.
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- CNS hypomyelinationHPOHP:0003429
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- FallsHPOHP:0002527
- 1 of 1 reported patient
- Gowers signHPOHP:0003391
- 1 of 1 reported patient
- HypotelorismHPOHP:0000601
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Progressive microcephalyHPOHP:0000253
- 1 of 1 reported patient
- Prominent ear helixHPOHP:0009904
- 1 of 1 reported patient
Show the remaining 6
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 1 of 1 reported patient
- Rotary nystagmusHPOHP:0001583
- 1 of 1 reported patient
- Truncal titubationHPOHP:0030147
- 1 of 1 reported patient
- Very long chain fatty acid accumulationHPOHP:0008167
- 1 of 1 reported patient
- Waddling gaitHPOHP:0002515
- 1 of 1 reported patient
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.
- ACBD5HGNC:23338
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: retinal dystrophy with leukodystrophy
- Also called
- RDLKD