leukodystrophy, hypomyelinating, 5
Findings
No curated finding names leukodystrophy, hypomyelinating, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0012514), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
28 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.
- Axial hypotoniaHPOHP:0008936
- 10 of 10 reported patients
- Babinski signHPOHP:0003487
- 10 of 10 reported patients
- CNS hypomyelinationHPOHP:0003429
- 10 of 10 reported patients
- Developmental cataractHPOHP:0000519
- 10 of 10 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Lower limb amyotrophyHPOHP:0007210
- 9 of 10 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 9 of 10 reported patients
- PolyneuropathyHPOHP:0001271
- 9 of 10 reported patients
- Truncal titubationHPOHP:0030147
- 9 of 10 reported patients
- Abnormal cerebellum morphologyHPOHP:0001317
- Very frequent (80% to 99% of cases)
- Cerebral hypomyelinationHPOHP:0006808
- Very frequent (80% to 99% of cases)
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.
- HYCC1HGNC:24587
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: leukodystrophy, hypomyelinating, 5
- Also called
- FAM126A leukodystrophyHLD5hypomyelinating leukodystrophy 5hypomyelinating leukodystrophy type 5hypomyelination-congenital cataract syndromeleukodystrophy caused by mutation in FAM126Aleukodystrophy, hypomyelinating, type 5