Global Variome shared LOVD

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Phenotype #0000330538 Individual ID 00440626 Associated disease PVNH Diagnosis/Initial periventricular nodular heterotopia Diagnosis/Definite PVNH8 Phenotype details no microcephaly; no growth delay; motor delay; 3y-no walk; speech delay, no speech; intellectual disability; normal behaviour, no aggression, no self-injury; 3m-infantile spasms, later absence, "drop attacks"; EEG left sided temporal changes, hypsarrhythmia; mild hypotonia, spasticity; No; MRI brain 2y-normal; mild supratentorial volume loss, significant cerebellar volume loss; long, down-slanting palpebral fissures, epicanthal folds, ectropion bilaterally, long lashes, medially sparse but well- arched eyebrows, depressed nasal bridge, pointed chin, tapered fingers, fetal pads; no hearing loss; nystagmus, cortical visual impairment; no cardiac anomalies; rnormal espiratory system; gastroesophageal reflux disease, G-tube in place, frequent vomiting; cryptorchidism; inverted nipple, sacral dimple; normal endocrine system; <3y-poor sleeper; Parents noted he is quite sweaty, social (laughs, smiles) Inheritance Isolated (sporadic) Age/Examination 3y2m (3 years, 2 months) 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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