Global Variome shared LOVD

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Phenotype #0000143713 Individual ID 00181524 Associated disease DD Phenotype details normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; infantile spasms, convulsive status epilepticus; EEG-disorganized paroxysms; autism spectrum disorder; RTT-like features stereotyped hand movements, absent purposeful hand movements; choreic movement, myoclonic jerks; central visual defects; no speech; MRI brain unremarkable; abnormal behavior, inability to walk, severe constipation Diagnosis/Initial developmental delay Inheritance Familial, autosomal dominant Diagnosis/Definite NEDHAHM Age/Examination 13y (13 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 15:34:10 +02:00 (CEST) Date last edited 2020-06-17 10:11:47 +02:00 (CEST)

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