Global Variome shared LOVD

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Phenotype #0000204155 Individual ID 00266386 Associated disease ? Diagnosis/Initial microcephaly, DD, pachygyria Diagnosis/Definite - Phenotype details born at term; OFC birth 32.5 (SD-1.8); OFC 44.5 (SD-5.0); narrow forehead, upslanting palpebral fissures, thick eyebrows, bulbous nose, prominent ear, smooth philtrum, thin upper lip, widened and separated teeth; truncal hypotonia; no spasticity; myopia; normal auditory; delayed motor skills; delayed language; autistic features; 6y9m-onset generalized seizures; 6y6m-EEG continuous slow background activity and frequent multifocal epileptiform discharges; 21m-MRI brain pachygyria, thin corpus callosum, mild cerebellar volume loss Inheritance Familial, autosomal recessive Age/Examination 6y5m (6 years, 5 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-10-25 13:06:56 +02:00 (CEST) Date last edited N/A

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