Phenotype #0000331162

Individual ID 00441737
Associated disease MLC
Phenotype details mildly delayed initial cognitive development; mildly delayed initial motor development; 7m-increased OFC; 3y-walk; 4y-start motor decline; 5y-loss unsupported walking; 6y-full wheelchair dependency; 15y-start cognitive decline; no behavioural problems; no history psychiatric diagnoses; 14y-occasional generalized seizures; OFC 62 cm (>+2SD); clumsiness; spasticity of arms; spasticity of legs; gait/truncal ataxia; appendicular ataxia; dystonia; dysarthria; dysphagia; mild cognitive deficit; no autistic features
Diagnosis/Initial brain oedema
Inheritance Isolated (sporadic)
Diagnosis/Definite MLC3
Age/Examination 27y (27 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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