Global Variome shared LOVD

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Phenotype #0000331165 Individual ID 00441740 Associated disease MLC Phenotype details mildly delayed initial cognitive development; highly delayed initial motor development; 6m-increased OFC; 2y-walk; no cognitive decline; impulsivity, hyperactivity in early childhood, later normalization; no history psychiatric diagnoses; 1y-occasional generalized seizures; no status epilepticus; OFC 58 cm (>+2SD); clumsiness; no spasticity of arms; no spasticity of legs; no gait/truncal ataxia; no appendicular ataxia; no dystonia; no rigidity; no dysarthria; mild cognitive deficit; no autistic features Diagnosis/Initial brain oedema Inheritance Familial, autosomal recessive Diagnosis/Definite MLC4 Age/Examination 13y (13 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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