Global Variome shared LOVD

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Phenotype #0000333162 Individual ID 00443885 Associated disease NDD Diagnosis/Initial early-infantile onset epilepsy, developmental delay Diagnosis/Definite DEE89 Phenotype details see paper; ..., delayed in all milestones, 4y-simple speech, walking delayed, no complex movements; moderate intellectual disability; high myopia; normal hearing; dysmorphic facial features; no cleft palate; clindodactyly, pes planus, scoliosis; mild hypotonia; 2m-onset epilepsy; focal non/motor seizures with impaired awareness; seizures 7y-controlled (5y6m-last seizure); EEG onset burst suppression; 11y-EEG normal; 5y-cardiovascular MRI normal; hydronephrosis, nephrocalcinosis, bilateral kidney stones Inheritance Familial, autosomal recessive Age/Examination 10y3m (10 years, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-05 15:52:20 +01:00 (CET) Date last edited N/A

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