Ogden syndrome
Findings
No curated finding names Ogden syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
Definition from the Mondo Disease Ontology (MONDO:0010457), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
124 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.
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Microvesicular hepatic steatosisHPOHP:0001414
- 1 of 1 reported patient
- Pulmonary artery stenosisHPOHP:0004415
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- 5 of 8 reported patients
- Occasional (5% to 29% 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.
- NAA10HGNC:18704
- Definitive · G2P · X-linked · 2017
- Strong · Ambry Genetics · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
5 names
Resolves to: Ogden syndrome
- Also called
- N-terminal acetyltransferase deficiencyOgden syndrome, X-linked recessive, X-linked dominantOGDNSpremature ageing appearance-developmental delay-cardiac arrhythmia syndromepremature aging appearance-developmental delay-cardiac arrhythmia syndrome