Global Variome shared LOVD

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Phenotype #0000330525 Individual ID 00440613 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details no microcephaly; no growth delay; motor delay; 22m-23m-walk; speech delay; moderate intellectual disability; attention deficit hyperactivity disorder; 12m-focal seizure; EEG focal epileptic discharges, slow background cerebral activity for age; hypotonia, spasticity; MRI brain 2m-thin corpus callosum; slender nasal bridge, small mouth, bilateral 5th clinodactyly; no hearing loss; mild astigmatism; small patent foramen ovale; rnormal espiratory system; used to be extremely constipated; coronal hypospadias, bilateral small kidneys; mottled skin, cold and red extremities, hyperkeratotic skin on hands, hair unruly, central frontal whorl; normal endocrine system; no sleep disturbance; Inheritance Isolated (sporadic) Age/Examination 4y (4 years) 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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