Conditions / Genetic
chromosome 1p36.33 duplication syndrome
info · Genetic
A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3
A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common.
Signs and symptoms
- Corneal opacity
- Bradycardia
- Neonatal hypotonia
- Hypertrophic cardiomyopathy
- Lactic acidosis
- Abnormal cerebral white matter morphology
- Encephalopathy
- EEG abnormality
- Seizure
- Flexion contracture
Also known as: CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT