Global Variome shared LOVD

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Phenotype #0000301943 Individual ID 00409828 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; short stature; age at sitting: delayed; age at walking: 2y3m; age at talking & current speech:delayed; dysmorphic features: 5th finger clinodactyly; neurologic & behavioral problems: ataxia anxiety; electroencephalogram: not available; brain magnetic resonance: abnormal signaling in caudate pathway and putamen; visual abnormalities: retinitis pigmentosa, peripheral vision loss and gaze abnormality; other abnormalities: kyphoscoliosis, pes planus Inheritance Isolated (sporadic) Age/Examination 34y (34 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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