Global Variome shared LOVD

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Phenotype #0000292357 Individual ID 00399245 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite NEDSGA Inheritance Isolated (sporadic) Phenotype details see paper; ..., prenatal period unremarkable, birth 39wweight 3,450 g (47P), length 53 cm (68P), OFC 37 cm (90P); neonatal unremarkable; no congenital anomalies; normal postnatal growth; moderate to severe developmental delay; no speech; MRI brain normal; 3y-hyperactivity, reduced attention span, aggressive behavior, reduced interaction with other children; 4y-non-verbal communication, ability to focus and play; muscle mild muscular hypotonia (neonatal); clumsy gait; 13m-onset febrile seizures; no craniofacial dysmorphism; EEG generalized spikes and waves during sleep; stereotypic hand movements Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-01-17 18:24:48 +01:00 (CET) Date last edited 2022-01-17 18:26:42 +01:00 (CET)

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