All individuals with variants in gene CIC

27 entries on 1 page. Showing entries 1 - 27.
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Owner     
00163912 - - - M - (Germany) - - - - - ? Ataxia (HP:0001251); Intellectual disability (HP:0001249); Tremor (HP:0001337) 1 1 IMGAG
00164362 Jansen et al. Patient 24 Jansen, submitted - M - - - - - - - ID ASD (HP:0000729); borderline intellectual disability (HP:0006889) 1 1 Lisenka Vissers
00229931 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Attention deficit hyperactivity disorder (HP:0007018); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Strabismus (HP:0000486); Astigmatism (HP:0000483) 1 1 IMGAG
00248876 - - - - - - - - - - - ID - 1 1 Yunping Lei
00248879 Nat - - - - - - - - - - ID - 1 1 Yunping Lei
00324404 Fam1 PubMed: Lu 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - white - - - - ? see paper; ..., OFC 57.5cm (99th); autism spectrum disorder/autistic features; no attention-deficit/hyperactivity; developmental delay/intellectual disability; seizures; no dysmorphic features; MRI multiple punctate foci of T2 hyperintensity within subcortical white matter; normal muscle tone, normal deep tendon reflexes, no dyskinesia; no ataxia; ALL, diastasis recti, mild telangiectasia 1 1 Johan den Dunnen
00324405 Fam2Pat1 PubMed: Lu 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - - white - - - - ? see paper; ..., no autism spectrum disorder/autistic features; no attention-deficit/hyperactivity; developmental delay/intellectual disability; seizures; no dysmorphic features; MRI brain normal; normal muscle tone, normal deep tendon reflexes, normal gait, no ataxia; pulmonary stenosis 1 2 Johan den Dunnen
00324406 Fam2Pat2 PubMed: Lu 2017 brother M - - white - - - - ? see paper; ..., OFC 54cm (90th); no autism spectrum disorder/autistic features; attention-deficit/hyperactivity; developmental delay/intellectual disability; seizures; no dysmorphic features; MRI brain normal; truncal hypotonia, normal deep tendon reflexes, normal gait, no ataxia; heart murmur, mild cutis marmorata telangiectasia 1 1 Johan den Dunnen
00324407 Fam3 PubMed: Lu 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Asian - - - - ? see paper; ..., OFC 50.2cm (32nd); autism spectrum disorder/autistic features; no attention-deficit/hyperactivity; developmental delay/intellectual disability; no seizures; no dysmorphic features; MRI brain single punctate focus of T2 hyperintensity within right frontal lobe white matter; mild diffuse hypotonia, normal reflexes, no dyskinesia, no ataxia 1 1 Johan den Dunnen
00324408 Fam4 PubMed: Lu 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents, mosaic father M - - white - - - - ? see paper; ..., OFC 54cm (27th); autism spectrum disorder/autistic features; attention-deficit/hyperactivity; developmental delay/intellectual disability; no seizures; no dysmorphic features; MRI brain several periventricular T2 hyperintensities white matter, more concentrated in parieto-occipital region; normal muscle tone, hyperreflexia, no pyramidal syndrome, no ataxia; Marfanoid habitus, stereotypic movements 1 1 Johan den Dunnen
00324413 MRtrio6 PubMed: Vissers 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M - (Netherlands) - - - - - ID see paper; ... 1 1 Johan den Dunnen
00324424 CFD1A PubMed: Cao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - ? autistic spectrum disorder, seizures, loss of repetitive language, loss of motor skills 1 1 Johan den Dunnen
00324425 CFD-1SG PubMed: Cao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - ? - 1 1 Johan den Dunnen
00324426 Pat5 PubMed: Tan 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - ? see paper; ..., developmental delay/intellectual disability, febrile seizure, vitD deficiency, no dysmorphic features, no ADHD, no ASD 1 1 Johan den Dunnen
00324427 Pat6 PubMed: Tan 2019 - F - United States - - - - - ? see paper; ..., developmental delay/intellectual disability, mild motor incoordination, no seizures, no dysmorphic features, no ADHD, no ASD 1 1 Johan den Dunnen
00324439 family Journal: Kishnani 2020 2-generation family, 3 affected - - United States - - - - - ? - 1 3 Johan den Dunnen
00383044 185309 - - M no Germany - - - - - MRD45 Delayed speech and language development, Behavioral abnormality, Seizure, Increased serum lactate, Increased CSF lactate, Hyperglycinemia 1 1 Andreas Laner
00416321 Pat4 PubMed: Han 2022 analysis 140 isolated spina bifida cases F - - - - - - - NTD - 1 1 Yunping Lei
00416322 Pat8 PubMed: Han 2022 analysis 140 isolated spina bifida cases F - - - - - - - NTD - 1 1 Yunping Lei
00419201 Pat1 PubMed: Han 2022 analysis 140 isolated spina bifida cases M - - - - - - - NTD - 1 1 Johan den Dunnen
00419202 Pat2 PubMed: Han 2022 analysis 140 isolated spina bifida cases M - - - - - - - NTD - 1 1 Johan den Dunnen
00419203 Pat3/7 PubMed: Han 2022 analysis 140 isolated spina bifida cases M - - - - - - - NTD - 2 1 Johan den Dunnen
00419204 Pat5 PubMed: Han 2022 analysis 140 isolated spina bifida cases M - - - - - - - NTD - 1 1 Johan den Dunnen
00419205 Pat6 PubMed: Han 2022 analysis 140 isolated spina bifida cases M - - - - - - - NTD - 1 1 Johan den Dunnen
00419582 8051 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00428026 A200 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00435250 260881 - - M no ? (unknown) - - - - - MRD45 Autism, Neurodevelopmental delay, Poor speech 1 1 Andreas Laner
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