Phenotype #0000331164

Individual ID 00441739
Associated disease MLC
Phenotype details highly delayed initial cognitive development; highly delayed initial motor development; 6m-increased OFC; 4-5y-walk; no cognitive decline; in childhood agitation, impulsivity, hyperactivity and sleep disorder, later improvement; no history psychiatric diagnoses; 1y-severe epilepsy; frequent status epilepticus; OFC 57.5cm (normal); clumsiness; no spasticity of arms; no spasticity of legs; gait/truncal ataxia; appendicular ataxia; dystonia; mild rigidity; dysarthria; no dysphagia; severe cognitive deficit; no autistic features
Diagnosis/Initial brain oedema
Inheritance Familial, autosomal recessive
Diagnosis/Definite MLC4
Age/Examination 16y (16 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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