Global Variome shared LOVD

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Phenotype #0000129451 Individual ID 00164346 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details epilepsy (HP:0001250); hypotonia (HP:0001290),; Talipes equinovarus (HP:0001762); facial dysmorphism (HP:0001999),; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); speech delay (HP:0000750) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lisenka Vissers Database submission license No license selected Created by Lisenka Vissers Date created 2018-05-14 19:34:36 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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