Global Variome shared LOVD

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Phenotype #0000331161 Individual ID 00441736 Associated disease MLC Phenotype details normal initial cognitive development; normal initial motor development; 9m-increased OFC; never walked; 4y-start motor decline; 6y-full wheelchair dependency; 4y-start cognitive decline; rage; no history psychiatric diagnoses; 4y-refractory generalized seizures; no status epilepticus; OFC >+2SD; clumsiness; spasticity of arms; spasticity of legs; no gait/truncal ataxia; no appendicular ataxia; no dystonia; no rigidity; dysarthria; no dysphagia; severe cognitive deficit Diagnosis/Initial brain oedema Inheritance Isolated (sporadic) Diagnosis/Definite MLC3 Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Rogier Min Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-09 19:08:47 +01:00 (CET) Date last edited N/A

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