Phenotype #0000078822

Individual ID 00100611
Associated disease PASNA
Phenotype details 0d-cerebral palsy, spastic quadriplegia, mild athetosis, severe generalized intellectual disability, complex partial and generalized seizures; 5y-markedly hypertensive, persistently elevated blood pressure, polydipsia, hypokalemia, metabolic alkalosis, high serum aldosterone; CT-scan no adrenal abnormality; ECG mild left ventricular hypertrophy
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset 00y00m00d
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-03-05 14:41:00 +01:00 (CET)
Date last edited 2017-03-05 14:51:55 +01:00 (CET)

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