Global Variome shared LOVD

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Phenotype #0000230545 Individual ID 00303465 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDAHM Phenotype details intellectual disability; 6y-speech only few word; normal behaviour; height 2y 79 cm (2nd); OFC 2y 44.5 cm (<0.4th); 6y6m 47.5 cm (<0.4th); Yes (generalized hypertonia predominantly in both lower limbs, ankle clonus, easily elicited reflexes, unsteady spastic gait and toe walking); no gross motor development; MRI showed a thin corpus callosum, dilated ventricles with poor volume of white matter (Fig. 1d); no seizures; no facial dysmorphism, just a right preauricular skin tag 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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