All individuals with variants in gene IFT27

7 entries on 1 page. Showing entries 1 - 7.
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00000086 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00293106 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00331732 RP-2069 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - retinal disease cone-rod dystrophy, polydactyly, maturation, learning delay, obesity, chronic renal failure 2 1 LOVD
00417528 BBS_DG7a PubMed: Aldahmesh 2014 family BBS_DG7, individual a F yes Saudi Arabia - - - - - BBS obesity; intellectual disability; renal symptoms: renal hypoplasia; retinitis pigmentosa; polydactyly; no deafness; anosmia; atopy; BBS facies; congenital heart disease: none; fatty liver: Y; no hypogenitalism 1 1 LOVD
00417529 BBS_DG7b PubMed: Aldahmesh 2014 family BBS_DG7, individual b M yes Saudi Arabia - - - - - BBS obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; deafness; anosmia; atopy; BBS facies; congenital heart disease: unknown; fatty liver: Y; hypogenitalism 1 1 LOVD
00417535 ? PubMed: Quelin 2018 - F - - - - - - - ? 18-week estimated gestational age (EGA) fetus of healthy unrelated parents, second pregnancy (firsth healthy boy), first trimester ultrasound unusual intestinal image; estimated risk for trisomy 21: 1/10,000; 14-week scan: polydactyly, malposition of the fingers; parents requested termination of pregnancy, female fetus delivered at 18 weeks; fetal karyotype and comparative genome hybridization on chorionic villi: normal 46,XX; postmortem examination: low-set posteriorly rotated ears, widely spaced eyes, broad nasal tip, anteverted nares, pseudocleft of the upper lip with multiple gingival frenula, retrognathia, a broad and edematous neck, short fingers with small nails, mesoaxial polydactyly with cutaneous syndactyly of the left fourth and fifth fingers, left foot preaxial polydactyly and cutaneous syndactyly toes five to seven on the left and toes three to four on the right, external genitalia abnormal with a small genital tubercle and unfused genital swelling and an imperforate anus; autopsy: retro-esophageal right subclavian artery without heart malformation, laryngeal cleft, bilateral renal agenesis, abnormal internal genitalia with ovaries, residual hemi-uterus, no vagina and blind rectum; pancreas hypertrophic and dysplastic with fibrosis and dilated ducts; liver: bile duct proliferation; dysplasia of the pancreas with dilated ductal structures; placenta normal; radiograms: short tubular bones consistent with 16-week EGA including bilateral shortening of the tibia, segmentation abnormalities of sacral vertebrae, a trident appearance of the acetabular roof, narrow chest with short ribs and distal limbs abnormalities compatible with the clinical examination; brain: normal, without hypothalamic hamartoma 2 1 LOVD
00417536 ? PubMed: Schaefer 2019 - M - - - - - - - BBS the only child of an unrelated couple without personal or familial medical history; born at 39 weeks of gestation; weight: 3210 g, height: 51 cm; head circumference: 35 cm; mesoaxial polydactyly of the right hand with a Y-shaped metacarpian and syndactyly between the 5th and the 6th fingers and postaxial polydactyly of the right foot noticed at birth; partial atrioventricular septal defect diagnosed and operated at 5 weeks old; mitral insufficiency persisted after operation and was operated at 2 years old; renal ultrasound: normal; cerebral ultrasound at birth: isolated thin corpus callosum, not confirmed on cerebral magnetic resonance imaging; delayed psychomotor development: walked at 25-month-old; delayed language (5 words at 2 years; 10 words at 3 years, sentences at 5 years; audition: normal; specialized education; progressively developed obesity: at 2 years old, 16.8 kg (+ 3SD) for 93 cm (+ 2SD) and normal head circumference (49 cm); at 3 years old, 22.9 kg (> +3SD) for 101.5 cm (+ 2SD); 7y BMI: 25; ophthalmologic examination 2y: myopia ; 3y: alternate divergent strabismus; scalable myopia noticed at 4y; 7y: cone-rod dystrophy 2 1 LOVD
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