chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant
MONDO:0032933Mondo
Findings
No curated finding names chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy
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.
- BradycardiaHPOHP:0001662
- 5 of 5 reported patients · Neonatal onset
- Corneal opacityHPOHP:0007957
- 5 of 5 reported patients · Congenital onset
- Neonatal hypotoniaHPOHP:0001319
- 5 of 5 reported patients · Neonatal onset
- Hypertrophic cardiomyopathyHPOHP:0001639
- 3 of 5 reported patients · Congenital onset
- Lactic acidosisHPOHP:0003128
- 3 of 5 reported patients · Neonatal onset
- Dilated cardiomyopathyHPOHP:0001644
- 2 of 5 reported patients · Congenital onset
- EEG abnormalityHPOHP:0002353
- 2 of 5 reported patients · Neonatal onset
- EncephalopathyHPOHP:0001298
- 2 of 5 reported patients · Neonatal onset
- Flexion contractureHPOHP:0001371
- 2 of 5 reported patients · Congenital onset
- Hydrops fetalisHPOHP:0001789
- 2 of 5 reported patients · Fetal onset
- SeizureHPOHP:0001250
- 2 of 5 reported patients · Neonatal onset
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients · Congenital onset · Male
Show the remaining 6
- HypospadiasHPOHP:0000047
- 1 of 3 reported patients · Congenital onset · Male
- MicropenisHPOHP:0000054
- 1 of 3 reported patients · Congenital onset · Male
- Developmental cataractHPOHP:0000519
- 1 of 5 reported patients · Congenital onset
- Fetal akinesia sequenceHPOHP:0001989
- 1 of 5 reported patients · Fetal onset
- Simplified gyral patternHPOHP:0009879
- 1 of 5 reported patients · Congenital onset
- Abnormal cerebral white matter morphologyHPOHP:0002500