Global Variome shared LOVD

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Phenotype #0000352337 Individual ID 00467130 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; encephalopathy; seizures; sleep abnormality; inappropriate laughter; abnormal repetitive mannerisms; no speech; global developmental delay; dystonia; hypoglycorrhachia; decreased lacrimation; decreased sweating due to autonomic dysfunction; constipation Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-08 11:17:07 +02:00 (CEST) Date last edited 2025-10-08 11:39:26 +02:00 (CEST)

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