Global Variome shared LOVD

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Phenotype #0000301947 Individual ID 00409832 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: n/a; age at walking: 1y; age at talking & current speech:delayed & dysarthric speech; dysmorphic features: flat occiput, slight synophrys (father), widely spaced teeth; neurologic & behavioral problems: progressive neurologic decline, abnormal tone, mild wide spaced gait, bulbar weakness (mild drooling), swallowing dysfunction recent onset right-sided facial weakness; electroencephalogram: mild diffuse slowing; brain magnetic resonance: lesions in brainstem (concerning for a demyelinating disease vs autoimmune process vs Guillain Barre syndrome); visual abnormalities: bilateral optic atrophy; other abnormalities: full cheeks (steroid usage) ,truncal obesity, high blood vs zero cerebrospinal fluid glutamine, high cerebrospinal fluid lactate and pyruvate, high peripheral blood lactate Inheritance Isolated (sporadic) Age/Examination 8y (8 years) 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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