All individuals with variants in gene TUBGCP6

15 entries on 1 page. Showing entries 1 - 15.
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00017599 - PubMed: Casey 2014 2-generation family, 1 affected, unaffected heterozygous carrier mother M yes Ireland Irish Traveller - - - - CILD see paper; normal situs, EM revealed that, typically, both inner and outer dynein arms are absent 1 1 Johan den Dunnen
00050428 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? generalized hypotonia, global developmental delay 1 1 Johan den Dunnen
00146561 - - - M - (Germany) - - - - - ? Microcephaly (HP:0000252); Abnormality of prenatal development or birth (HP:0001197) 1 1 IMGAG
00274288 GC21023 Pt7 PubMed: Hull 2019 2 generation family, 2 affected M no United Kingdom (Great Britain) - - - - - EVR;FEVR, ID exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), rod-cone dystrophy (HP:0000510) 1 2 Jasmine Chen
00293155 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00293156 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00314891 Trio72 PubMed: Zhu 2015 - F - United States - - - - - ? Developmental delay, sleep disturbances, hypotonia, abnormal gait, chronic constipation, microcephaly, abnormal limb posturing, arachnodactyly, no true language skills, Angelman-like phenotype, no seizures, no regression. 2 1 Johan den Dunnen
00374879 R-0689 PubMed: Ganapathy 2019 - - - India - - - - - ? - 2 1 Johan den Dunnen
00374880 S-4323 PubMed: Ganapathy 2019 - - - India - - - - - ? - 2 1 Johan den Dunnen
00383739 Pt 7 PubMed: Hull 2019 Family GC21033 M no United Kingdom (Great Britain) - - - - - retinal disease Loss of photoreceptors outside of fovea on OCT lack of peripheral vascularisation with fibrotic ridge. Rod-cone dysfunction Moderate learning difficulties 2 1 LOVD
00383740 Pt 8 PubMed: Hull 2019 brother of Pt 7, Family GC21033 F no United Kingdom (Great Britain) - - - - - retinal disease Lack of peripheral vascularisation on FFA with fibrotic ridge. Rod-cone dysfunction Moderate learning difficulties 2 1 LOVD
00396709 Pat2 PubMed: Díaz-Gonzalez 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - AMD see paper; ..., severe short stature; acromesomelia; mild bowed forearm; brachydactyly; hypoplasia hand phalanges; no hyperlordosis; no talipes equinovarus; toes short, broad, sandal gap; no nail aplasia/hypoplasia; triangular face, broad nasal bridge, pointed chin, synophrys, hypertelorism low set ears; hirsutism; radiology normal skull, anterior beaking vertebral bodies of thoracolumbar junction, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees 1 1 Johan den Dunnen
00408981 10 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given F - - Old Order Amish and Mennonite - - - - MCCRP1 congenital pachygyric microcephaly; global developmental delay; chorioretinopathy and retinal detachment 1 1 LOVD
00422358 P10 PubMed: Shurygina 2020 - M - - - - - - - retinal disease family history of retinal disease: sister; family history of microcephaly: sister; head circumference<1st percentile (45 cm at 12y); age at first visit (years): 2age at last visit (years): 17; follow up (years): 15; birth weight (kg): 2.89; intellectual disability: ; epilepsy: no; growth retardation: yes; lymphedema: no; additional symptoms: wide nose with broad nasal root, downslanting palpebral fissures, fifth finger clinodactyly, constipation, aggressive and self-injurious behaviors 2 1 LOVD
00422359 P11 PubMed: Shurygina 2020 - F - - - - - - - retinal disease family history of retinal disease: brother; family history of microcephaly: brother; head circumference<1st percentile (46.5 cm at 17y); age at first visit (years): 9age at last visit (years): 24; follow up (years): 15; birth weight (kg): 3.06; intellectual disability: ; epilepsy: no; growth retardation: yes; lymphedema: yes; additional symptoms: broad, depressed nasal bridge, mild micrognathia, upslanting palpebral fissures, high arched palate, bifid uvula, secondary amenorrhea, urinary incontinence, constipation, mild kyphosis and lordosis, multiple pigmented nevi, increased muscle tone, decreased strength 2 1 LOVD
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