Global Variome shared LOVD

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Phenotype #0000355613 Individual ID 00470717 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; hypotonia; 9m-sit; 23m-walk; speech delayed expressive language; severe intellectual disability; autism spectrum disorder; Major anxiety; 7y-epilepsy; EEG biilateral temporo-occipital spikes and spike-waves discharges; MRI bilateral periventricular nodular heterotopia; flat facial profile; no ophthalmological features; bilateral postaxial polydactyly; spontaneously resolving pelviureteric junction obstruction; bilateral cryptorchidism Age/Examination 12y (12 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 2025-12-08 15:51:34 +01:00 (CET) Date last edited N/A

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