Phenotype #0000331163

Individual ID 00441738
Associated disease MLC
Phenotype details normal initial cognitive development; normal initial motor development; 6m-increased OFC; 13m-walk; 8y-start motor decline; 8y-loss unsupported walking; 12y-full wheelchair dependency; 14y-start cognitive decline; no behavioural problems; 14y-depression; two single seizures after fall (adulthood); no status epilepticus; OFC 61.5 cm (>+2SD); clumsiness; spasticity of arms; spasticity of legs; gait/truncal ataxia; appendicular ataxia; no dystonia; rigidity; dysarthria; no dysphagia; mild cognitive deficit; no autistic features
Diagnosis/Initial brain oedema
Inheritance Isolated (sporadic)
Diagnosis/Definite MLC3
Age/Examination 24y (24 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Rogier Min
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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