Global Variome shared LOVD

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Phenotype #0000301946 Individual ID 00409831 Associated disease NEDVIBA Diagnosis/Initial - Diagnosis/Definite neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) Phenotype details Prenatal development: premature, born at 8m gestation; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: 8m; age at walking: 1y4m; age at talking & current speech:1y6m; dysmorphic features: none; neurologic & behavioral problems: none; electroencephalogram: not available; brain magnetic resonance: not available; visual abnormalities: retinitis pigmentosa (age of diagnosis: 7 years), optic atrophy; other abnormalities: hypertension Inheritance Isolated (sporadic) Age/Examination 44y (44 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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