Global Variome shared LOVD

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Phenotype #0000143714 Individual ID 00181525 Associated disease DD Phenotype details normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; focal seizures; EEG-generalized and multifocal abnormalities; autism spectrum disorder; RTT-like features stereotyped hand movements (wringing), absent purposeful hand movements; no movement disorder; no central visual defects; speech only 5–10 spoken words; MRI brain unremarkable; clumsiness, abnormal behavior Diagnosis/Initial NEDHAHM Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Stephanie Efthymiou Database submission license Creative Commons Attribution 4.0 International Created by Stephanie Efthymiou Date created 2018-10-10 15:37:11 +02:00 (CEST) Date last edited 2020-06-17 10:04:14 +02:00 (CEST)

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