All individuals with variants in gene CASP2

7 entries on 1 page. Showing entries 1 - 7.
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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     
00443399 Fam1PatII3 PubMed: Uctepe 2023 2-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Turkey - - - - - NDD see paper; ..., mild intellectual disability; no autistic features; ADHD; no aggressive behavior; no seizure; synophrys, laterally flared thick eyebrows, upslanting palpebral fissures, prominent nasal tip, thin upper lip, chin dimple, low-set, posteriorly rotated ears, thin ear helix; bilateral pachygyria, mild cortical thickening fronto-temporal lobes; MRI brain normal corpus callosum, prominent subcortical perivascular space 1 1 Johan den Dunnen
00443400 Fam2PatII1 PubMed: Uctepe 2023 2-generation family, 1 affected, unaffected heterozygous mother M - France - - - - - NDD see paper; ..., global developmental delay, moderate intellectual disability; autistic features; no ADHD; aggressive behavior; intolerance to frustration, poor social skills; no seizure; hypotonia, weakness, spasticity, hyperreflexia; no dysmorphic features; bilateral pachygyria, mild cortical thickening fronto-temporal lobes; MRI brain normal corpus callosum 2 1 Johan den Dunnen
00443401 Fam3PatII1 PubMed: Uctepe 2023 2-generation family, 1 affected, unaffected heterozygous parents M yes Iran - - - - - NDD see paper; ..., intellectual disability 1 1 Johan den Dunnen
00443402 Fam3PatII2 PubMed: Uctepe 2023 2-generation family, affected sister/brother, unaffected heterozygous parents F yes Iran - - - - - NDD see paper; ..., intellectual disability 1 2 Johan den Dunnen
00443403 Fam4PatII1 PubMed: Uctepe 2023 brother M yes Iran - - - - - NDD see paper; ..., intellectual disability 1 1 Johan den Dunnen
00443404 Fam4PatII2 PubMed: Uctepe 2023 2-generation family, affected sister/brother, unaffected heterozygous parents/relatives F yes Iran - - - - - NDD see paper; ..., intellectual disability 1 2 Johan den Dunnen
00443405 Fam5PatII1 PubMed: Uctepe 2023 brother M yes Iran - - - - - NDD see paper; ..., developmental delay; no autistic features; no ADHD; no aggressive behavior; seizure; hypotonia, poor vision, bilateral optic atrophy, abnormal uncoordinated gait; no dysmorphic features; bilateral pachygyria, mild cortical thickening fronto-temporal lobes; MRI brain normal corpus callosum, hydrocephaly 1 1 Johan den Dunnen
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