Global Variome shared LOVD

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Phenotype #0000346415 Individual ID 00457965 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDFSAB Phenotype details see paper; ..., 37w-birth weight 3.6 kg (75th), length 50.5 cm (62th), OFC 36.8 cm (93th); 2y-weight 9.8 kg (3rd), hight 81 cm (2nd), OFC 45 cm (1st); facial dysmorphisms; EEG 10d-posterior slowing, 4y-epileptiform discharges (generalized spike-and-wave); EEG background slowing, 4y-polymorphic rhythmic slowing; 2y-infantile spasms, tonic seizures; no photosensitive seizures, no eneralized tonic-clonic seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m-first neurodevelopmental symptoms/delay; 4y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress Inheritance Isolated (sporadic) Age/Examination 04y (4 years) 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 2024-11-22 20:32:48 +01:00 (CET) Date last edited N/A

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