Cockayne syndrome type 2
Findings
No curated finding names Cockayne syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.
Definition from the Mondo Disease Ontology (MONDO:0019570), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
50 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.
- Deeply set eyeHPOHP:0000490
- 3 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- MicropenisHPOHP:0000054
- 2 of 2 reported patients
- PolyneuropathyHPOHP:0001271
- 3 of 3 reported patients
- Prominent nasal bridge
Show the remaining 38
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- Patchy demyelination of subcortical white matterHPOHP:0002545
- Very frequent (80% to 99% of cases)
- Subcortical white matter calcificationsHPOHP:0007346
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
Genes
3 genes
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.
- HGNC:3438HGNC:3438
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- ERCC1HGNC:3433
- Supportive · Orphanet · Autosomal recessive · 2021
- ERCC8HGNC:3439
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Cockayne syndrome type 2
- Also called
- Cockayne syndrome BCockayne syndrome type BCockayne syndrome type IICockayne syndrome, type B