Global Variome shared LOVD

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Phenotype #0000144406 Individual ID 00184075 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details see paper; …; no seizures; EEG not done; MRI delayed myelination; profound appendicular hypotonia; severe developmental delay (HP:0011344), poor speech (HP:0002465), ambulant; no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) Inheritance Isolated (sporadic) Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-10-28 13:05:22 +01:00 (CET) Date last edited N/A

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