Global Variome shared LOVD

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Phenotype #0000143715 Individual ID 00181526 Associated disease DD Phenotype details normal growth, normal OFC; hypotonia, developmental delay; moderate intellectual disability; no epileptic seizures; EEG-disorganized paroxysms; autism spectrum disorder; RTT-like features stereotyped hand movements (washing); no movement disorder; no central visual defects; speech only 5 words; MRI brain unremarkable; abnormal behavior Diagnosis/Initial developmental delay Inheritance Familial, autosomal dominant Diagnosis/Definite NEDHAHM Age/Examination 03y (3 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 15:39:21 +02:00 (CEST) Date last edited 2020-06-17 10:21:50 +02:00 (CEST)

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