Global Variome shared LOVD

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Phenotype #0000051398 Individual ID 00065259 Associated disease IE Phenotype details Autosomal-Recessive Severe Infantile Encephalopathy; Cachexia (HP:0004326), progressive muscular hypotonia (HP:0001252), Microcephaly (HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 07y (7 years) Age/Diagnosis 5.5m Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Johan den Dunnen Date created 2016-05-26 16:24:59 +02:00 (CEST) Date last edited N/A

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