Global Variome shared LOVD

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Phenotype #0000346393 Individual ID 00457943 Associated disease SPDRS Phenotype details see paper; ..., global developmental delay (HP:0001263); involuntary movements (HP:0004305) (6m-resteless movements); seizure (HP:0001250); hearing impairment (HP:0000365); visual impairment (HP:0000505); feeding difficulties, irritability; EEG 4y-multifocal spike-wave discharges, focal slow waves and spikes; 1m-vomit frequently (5y disappeared); 18y-bedridden, no voluntary/involuntary movements, intractable epilepsy, spastic quadriplegia, severe constipation, requires strict management intestinal dysfunction, frequent treatment for pneumonia Diagnosis/Initial developmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite SPDRS Age/Examination 18y (18 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 2024-11-21 16:24:52 +01:00 (CET) Date last edited N/A

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