occipital horn syndrome
Findings
No curated finding names occipital horn syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
Definition from the Mondo Disease Ontology (MONDO:0010572), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
75 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.
- Decreased circulating copper concentrationHPOHP:0011967
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- 4 of 4 reported patients
- Pili tortiHPOHP:0003777
- 4 of 4 reported patients
- Abnormal skull morphologyHPOHP:0000929
- Very frequent (80% to 99% of cases)
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
Show the remaining 63
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Large fontanellesHPOHP:0000239
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- 3 of 4 reported patients
- Abnormal esophagus physiologyHPOHP:0025270
- Frequent (30% to 79% of cases)
- Abnormality of the sense of smellHPOHP:0004408
- Frequent (30% to 79% 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.
- ATP7AHGNC:869
- Definitive · G2P · X-linked · 2025
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: occipital horn syndrome
- Also called
- occipital horn syndrome, X-linked recessive