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 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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