Global Variome shared LOVD

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Phenotype #0000204158 Individual ID 00266389 Associated disease ? Diagnosis/Initial lissencephaly Diagnosis/Definite - Phenotype details born 27w; OFC birth 21 (SD-2.3); OFC 34 (SD-9.0); bitemporal narrowing, upslanting palpebral fissure, synophrys, micrognathia, midfacial hypoplasia, prominent lower lip, prominent ears; truncal hypotonia; no spasticity; optic atrophy, retinal changes; passed auditory brainstem response test; severely delayed motor skills; severely delayed language; no autistic features; 7m-onset generalized seizures; EEG frequent epileptiform discharges; 1y-MRI brain pachygyria, subcortical band, subependymal cysts, periventricular leukomalacia, thin corpus callosum, thin brainstem Inheritance Familial, autosomal recessive Age/Examination 1y3m (1 year, 3 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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