Global Variome shared LOVD

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Phenotype #0000230541 Individual ID 00303461 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDAHM Phenotype details severe intellectual disability; speech little expressive language (few single words); behaviour loses temper, bangs head, cries, screams; height 3y4m 90.7 cm (2nd-9th), 9y10m 131.2 cm (9th-25th); OFC 3y11m 45.2 cm (<0.4th); increased tone in the lower limbs, with pathologically brisk reflexes and extensor plantar responses; delayed gross motor development, walk-24m; MRI showed dysgenic corpus callosum with dysmorphic ventricles; slight prominence of CSF spaces; normal cisterna magna, white matter, deep grey structures and calcification (data not shown); 2y-single episode of status epilepticus, ongoing seizure disorder controlled by AEDs (resolved as teenager); coarse facial features, low anterior hairline; mirror movements fingers; thick dry curly hair, squint, iron deficiency, anaemia Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-12 19:05:40 +02:00 (CEST) Date last edited N/A

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