All individuals with variants in gene CUL3

10 entries on 1 page. Showing entries 1 - 10.
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AscendingIndividual ID     
ID_report     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00265870 - PubMed: Nakashima 2020 - F no Japan - - - - - epilepsy Epileptic spasms 1 1 Mitsuko Nakashima
00265878 - PubMed: Nakashima 2020 - M no Malaysia - - - - - epilepsy Epileptic spasms 1 1 Mitsuko Nakashima
00265879 - PubMed: Nakashima 2020 - F no Netherlands - - - - - ID mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Mitsuko Nakashima
00296406 - - - M - - - - - - - ? Behavioral abnormality (HP:0000708); Global developmental delay (HP:0001263) 1 1 IMGAG
00301659 - - - F - (Germany) - - - - - ? Global developmental delay (HP:0001263); Premature birth (HP:0001622); Apneic episodes in infancy (HP:0005949); Patent ductus arteriosus (HP:0001643); Feeding difficulties in infancy (HP:0008872); Aggressive behavior (HP:0000718); Self-injurious behavior (HP:0100716) 1 1 IMGAG
00408112 194279 - - M likely Germany - - - - - NEDAUS Intellectual disability, Autistic behavior, Behavioral abnormality 1 1 Andreas Laner
00458256 311715 - - M no Germany - - - - - NEDAUS Global developmental delay, Failure to thrive 1 1 Andreas Laner
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
00459533 Pat2 PubMed: Chmielewska 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Europe - - - - NDD see paper; ..., height 2nd percentile, OFC 79th percentile; no behavioral problems; developmental delay; hypotonia, distal extremity tremor; EEG normal; MRI large perivascular space/neuroglial cyst; no muskuloskeletal anomalies; no cardiac anomalies; skin Café-au-lait macules; tapering fingers; wide distal phalanges; strawberry hemangioma; wide-based gait 1 1 Johan den Dunnen
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