Global Variome shared LOVD

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Phenotype #0000273538 Individual ID 00379552 Associated disease DD Phenotype details Seizure, Global developmental delay, Abnormal foot morphology, Pes planus, Generalized-onset seizure, Scoliosis, Thoracic kyphosis, Abnormality of the curvature of the vertebral column, Abnormal nervous system physiology, Neurodevelopmental delay, Skewfoot; brother died at the age of 3 years with similar developmental disorder Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite DEEAH Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-08-05 11:01:42 +02:00 (CEST) Date last edited 2021-08-06 11:56:03 +02:00 (CEST)

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