Global Variome shared LOVD

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Phenotype #0000054377 Individual ID 00074621 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Muscular hypotonia (HP:0001252), no migraines (-HP:0002076), Polymicrogyria (HP:0002126), Abnormal facial shape (HP:0001999), Syndactyly (HP:0001159), Scoliosis (HP:0002650); intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); no speech (HP:0001344) Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-07-11 12:58:15 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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