All individuals with variants in gene AQP4

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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00441739 Fam4Pat4-EL788 PubMed: Passchier 2023 2-generation family, 2 affected sibs, unaffected heterozygous parents M yes - - - - - - MLC 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 1 1 Rogier Min
00441740 Fam4Pat5-EL950 PubMed: Passchier 2023 sib F yes - - - - - - MLC 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 1 1 Rogier Min
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