Global Variome shared LOVD

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Phenotype #0000204152 Individual ID 00266383 Associated disease ? Diagnosis/Initial MEDNIK-like syndrome Diagnosis/Definite - Phenotype details global developmental delay; enteropathy (later onset); deafness; no neuropathy; ichthyosis; no palmoplantar keratoderma; erythroderma; hepatopathy; sparse hair, wiry texture; MRI brain basal ganglia abnormalities, no cerebral atrophy Inheritance Familial, autosomal recessive Age/Examination 1y5m (1 year, 5 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-10-25 11:59:49 +02:00 (CEST) Date last edited N/A

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