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Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Disease definition
A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).
ORPHA:369929
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable
- Age of onset: Infancy, Neonatal
- ICD-10: E26.0
- OMIM: 615474
- UMLS: C5230308
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)
Detailed information
Guidelines
- Clinical practice guidelines
- Français (2016) - SFE
- English (2016) - J Clin Endocrinol Metab


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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