All individuals with variants in gene CLASP2

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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     
00458538 Fam4PatIII2 PubMed: Fasham 2023 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrie parents M yes Egypt - - - - - NDD see paper; ..., birth-OFC 34.2cm (SD-0.8); weight 23kg (SD-2.3), height 123cm (SD-2.5), 45.5cm (SD-5.6); no feeding difficulties; severe intellectual disability; delayed gross motor development, 6y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; EEG abnormal; reduced central tone; decreased peripheral tone; normal tendon reflexes 1 3 Johan den Dunnen
00458539 Fam4PatIII3 PubMed: Fasham 2023 brother M yes Egypt - - - - - NDD see paper; ..., birth-OFC 35cm (SD-0.2); weight 16kg (SD-2.5), height 104cm (SD-2.7), 46.6cm (SD-4.3); no feeding difficulties; severe intellectual disability; delayed gross motor development, 6y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes 1 1 Johan den Dunnen
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