All individuals with variants in gene C12orf29

14 entries on 1 page. Showing entries 1 - 14.
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00385044 19748 PubMed: Xu 2020 - ? no China - - - - - retinal disease nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.3/0.3 1 1 LOVD
00387418 8 PubMed: Devi 2020 Family 8 ? - India - - - - - JBTS Pure type 1 1 LOVD
00388578 OFTALMO.087 PubMed: Dineiro 2020 - ? - Spain - - - - - retinal disease Non‐syndrom 1 1 LOVD
00389041 325 PubMed: Weisschuh 2020 Filing key number: 106, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00395771 F263 PubMed: Chen 2021 - ? - Taiwan - - - - - retinal disease - 1 1 LOVD
00397439 A197 (II-1) PubMed: Sayer 2006 Family A197, patient II-1 - no Denmark - - - - - retinal disease congenital amaurosis , retinal coloboma, early-onset tapetoretinal degeneration, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation or psychomotor retardation 1 1 LOVD
00397476 14964 PubMed: Den Hollander 2006 - - - Germany - - - - - retinal disease - 1 1 LOVD
00397648 MTI111a PubMed: Brancati 2007 - M no Laos - - - - - retinal disease eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis 1 1 LOVD
00397649 MTI111b PubMed: Brancati 2007 - F no Laos - - - - - retinal disease - 1 1 LOVD
00397684 1 PubMed: Molin 2013 - F - - - - - - - retinal disease aborted spontaneously at 21.5 weeks of gestation; fetal pathological examination: eutrophic female fetus with facial dysmorphism (slight hypertelorism and dolichocephaly) and a small occipital meningoencephalocele; bilateral renal cysts characteristic of MKS at histology and mild hepatic ductal dysplasia; occipital meningoencephalocele and hydrocephalus in association with extreme cerebellar vermis hypoplasia and brainstem anomalies (“molar tooth” appearance of the cerebral and superior cerebellar peduncles, fragmented dentate nucleus, asymmetric anomalies of corticospinal tracts, hypoplastic inferior oli 1 1 LOVD
00397690 1 PubMed: Wang 2015 proband M - China - - - - - retinal disease abnormal eye movements on both eyes; delayed development of gross and fine motor skills; age of 3 could not walk for a long distance without any support; autonomic nervous system: no problems with urination and defecation, but cannot finish independently; at 9 years of age, magnetic resonance imaging of the brain revealed classical molar tooth sign clinically: horizontal thickening and elongation of the superior cerebellar peduncles; delayed development of speech was also noticed. Doctors cannot understand his words without translation; lower cognitive abilities for his age; clinical symptoms worsened progressively 1 1 LOVD
00398226 CEP290_14 PubMed: Feldhaus 2020 - M - - - - - - - retinal disease best-corrected visual acuity right/left eye: 0.5/0.8, electroretinogram extinguished, nystagmus, no cataract, strabismus, no keratoconus, no oculodigital sign 1 1 LOVD
00407603 P12 PubMed: Cideciyan 2011 - F - - - - - - - retinal disease best corrected visual acuity right/left eye: 20/800/20/800, refraction:+3/+3, kinetic visual field extent (V-4e) right/left eye: <1/<1, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: cone; 24 1 1 LOVD
00420557 F263 PubMed: Chen 2021 - - - Taiwan - - - - - retinal disease - 1 1 LOVD
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