Global Variome shared LOVD

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Phenotype #0000330528 Individual ID 00440616 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details microcephaly; no growth delay; motor delay; 23m-walk; speech delay, 1y-first words; intellectual disability; no seizures; no hypotonia, no spasticity, no ataxia; MRI brain thin corpus callosum, short; palpebral fissures upslanted, low-set posteriorly rotated ears, anteversed nostrils, thin upper lip, micrognathism; sensitivity to noise, normal auditory evoked potential; normal vision; rnormal espiratory system; hypospadias, vesico-renal reflux; urogenital system suction difficulties); no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance Inheritance Isolated (sporadic) Age/Examination 10y (10 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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