Global Variome shared LOVD

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Phenotype #0000301948 Individual ID 00409833 Associated disease NEDVIBA Diagnosis/Initial - Diagnosis/Definite neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) Phenotype details Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: not achieved; age at walking: not achieved; age at talking & current speech:not achieved; dysmorphic features: none; neurologic & behavioral problems: seizures infantile spasms limb hypertonia; electroencephalogram: consistent with early myoclonic epileptic encephalopathy; brain magnetic resonance: abnormal autopsy findings volume loss along the white matter adjacent to the atria and frontal horns of the ventricle, atrophy of pons and brainstem, bilateral subdural fluid collection; visual abnormalities: optic atrophy nystagmus; other abnormalities: feeding difficulty, gastroesophageal reflux disease, small umbilical hernia, laryngotracheomalacia Inheritance Isolated (sporadic) Age/Examination <1y (before 1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-11 15:22:31 +02:00 (CEST) Date last edited N/A

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