Global Variome shared LOVD

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Phenotype #0000155276 Individual ID 00207498 Associated disease IE Phenotype details Systemic cyanosis and muscular hypotonia. Facial dysmorphism (depressed nasal bridge, large mouth, high-arched palate, micrognathia). Severe global DD, axial hypotonia and dyskinasia. Epileptic spasms and erratic myoclonic seizures. Progressive brain atrophy, delayed myelination, thin corpus callosum. Bilateral hydronephrosis. Elevated ALP level (405 IU/L) Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination - Age/Diagnosis 00y03m Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2018-11-23 16:48:13 +01:00 (CET) Date last edited N/A

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