All individuals with variants in gene ITGA4

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00390212 W000249 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - retinal disease - 1 1 LOVD
00458536 Fam3PatII2 PubMed: Fasham 2023 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Saudi Arabia - - - - - NDD see paper; ..., birth-OFC normal; weight 19.8kg (SD-1.8), height 125cm (SD-0.4), 47.5cm (SD-4.5); severe intellectual disability; delayed gross motor development, crawling; speech babbles; anxiety; stereotypies; no hyperactivity; seizures, generalized tonic-clonic seizures; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes, clonus; ankle contractures 1 2 Johan den Dunnen
00458537 Fam3PatII3 PubMed: Fasham 2023 sister F - Saudi Arabia - - - - - NDD see paper; ..., weight 10.9kg (SD-3.5), height 100cm (SD-0.4), 44.5cm (SD-5.5); birth feeding difficulties; severe intellectual disability; delayed gross motor development, not rolling; speech sounds; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum; craniosynostosis, ankle contractures 1 1 Johan den Dunnen
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