Global Variome shared LOVD

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Phenotype #0000330524 Individual ID 00440612 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details no microcephaly; growth delay; motor delay; no walk yet; speech delay, no speech; normal behaviour; no seizures; EEG normal; hypotonia; MRI brain 2y-periventricular nodular heterotopia, thin corpus callosum; prominent forehead, pointed chin; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; bowel constipation; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; Sprengel deformity both sides, hypermobility of joints Inheritance Isolated (sporadic) Age/Examination 16m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-05 11:38:45 +01:00 (CET) Date last edited N/A

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