All individuals with variants in gene CEP19

27 entries on 1 page. Showing entries 1 - 27.
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00260880 FamPat1/2 PubMed: Kasak 2009 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Estonia - - - - - SPGF see paper; … 1 2 Johan den Dunnen
00309639 FamilyPat501 PubMed: Khan 2016 5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - retinal disease see paper; ... 1 8 Johan den Dunnen
00309640 FamilyPat502 PubMed: Khan 2016 - M yes Pakistan - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309641 FamilyPat503 PubMed: Khan 2016 - M yes Pakistan - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309642 FamilyPat505 PubMed: Khan 2016 - F yes Pakistan - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309643 FamilyPat507 PubMed: Khan 2016 - F yes Pakistan - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309644 FamilyPat508 PubMed: Khan 2016 - F yes Pakistan - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309645 FamilyPat509 PubMed: Khan 2016 - M yes Pakistan - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00417699 V-3 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual V-3 M yes Israel Arab - - - - MOSPGF body mass index [kg/m2] (max BMI): 44.7 (61.0); hypertension; fasting glucose (norm 70-110 mg/dl): 82; triglycerides (norm 10-150 mg/dl): 138; cholesterol (norm below 200 mg/dl): 209; low-density lipoprotein (norm below 100-130 mg/dl): 123.5; high-density lipoprotein (norm M above 40; F above 50 mg/dl): 44; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome; oligospermic but fertile 1 1 LOVD
00417700 V-8 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual V-8 M yes Israel Arab - - - - MOSPGF body mass index [kg/m2] (max BMI): 47.3 (60.0); hypertension; fasting glucose (norm 70-110 mg/dl): 128 (impaired); triglycerides (norm 10-150 mg/dl): 95; cholesterol (norm below200 mg/dl): 187; low-density lipoprotein (norm below100-130 mg/dl): 111.1; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 55; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): +; fatty liver (ultrasound); metabolic syndrome; oligospermic but fertile 1 1 LOVD
00417701 Vlb-3 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-3 F yes Israel Arab - - - - MOSPGF body mass index [kg/m2] (max BMI): 34.0 (36.7); hypertension; fasting glucose (norm 70-110 mg/dl): 85; triglycerides (norm 10-150 mg/dl): 134; cholesterol (norm below200 mg/dl): 209; low-density lipoprotein (norm below100-130 mg/dl): 149.1; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 33; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome 1 1 LOVD
00417702 Vlb-15 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-15 M yes Israel Arab 36y - - - MOSPGF body mass index [kg/m2] (max BMI): 49.6 (52.0); hypertension; fasting glucose (norm 70-110 mg/dl): 78; triglycerides (norm 10-150 mg/dl): 145; cholesterol (norm below200 mg/dl): 150; low-density lipoprotein (norm below100-130 mg/dl): 100; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 40; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): ++; fatty liver ultrasound not available; metabolic syndrome; oligospermic but fertile; died as a result of complicated congestive heart failure and dilated cardiomyopathy 1 1 LOVD
00417703 Vlb-16 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-16 M yes Israel Arab - - - - MOSPGF body mass index [kg/m2] (max BMI): 34.3 (38.8); hypertension; fasting glucose (norm 70-110 mg/dl): 93; triglycerides (norm 10-150 mg/dl): 117; cholesterol (norm below200 mg/dl): 149; low-density lipoprotein (norm below100-130 mg/dl): 105; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 44; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome; azoospermia; intellectual disability 1 1 LOVD
00417704 Vlb-24 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-24 F yes Israel Arab - - - - MOSPGF body mass index [kg/m2] (max BMI): 50.9; hypertension; fasting glucose (norm 70-110 mg/dl): 89; triglycerides (norm 10-150 mg/dl): 96; cholesterol (norm below200 mg/dl): 189; low-density lipoprotein (norm below100-130 mg/dl): 119; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 49; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome 1 1 LOVD
00417705 Vlb-25 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-25 F yes Israel Arab - - - - MOSPGF body mass index [kg/m2] (max BMI): 51.4; hypertension; fasting glucose (norm 70-110 mg/dl): diabetic; triglycerides (norm 10-150 mg/dl): 149; cholesterol (norm below200 mg/dl): 198; low-density lipoprotein (norm below100-130 mg/dl): 124; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 41; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): +; fatty liver (ultrasound); metabolic syndrome 1 1 LOVD
00417706 Vlb-26 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-26 M yes Israel Arab - - - - MOSPGF body mass index [kg/m2] (max BMI): 36.8 (40.4); hypertension; fasting glucose (norm 70-110 mg/dl): diabetic; triglycerides (norm 10-150 mg/dl): 292; cholesterol (norm below200 mg/dl): 232; low-density lipoprotein (norm below100-130 mg/dl): 125.5; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 43; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): +; fatty liver (ultrasound); metabolic syndrome; oligospermic but fertile; intellectual disability 1 1 LOVD
00417707 Vlb-32 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-32 F yes Israel Arab - - - - MOSPGF body mass index [kg/m2] (max BMI): 44.4 (49.6); hypertension; fasting glucose (norm 70-110 mg/dl): 89; triglycerides (norm 10-150 mg/dl): 228; cholesterol (norm below200 mg/dl): 184; low-density lipoprotein (norm below100-130 mg/dl): 102.2; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 34; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome 1 1 LOVD
00417708 Vlb-33 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-33 F yes Israel Arab - - - - MOSPGF body mass index [kg/m2] (max BMI): 49.2; hypertension; fasting glucose (norm 70-110 mg/dl): diabetic; triglycerides (norm 10-150 mg/dl): 196; cholesterol (norm below200 mg/dl): 210; low-density lipoprotein (norm below100-130 mg/dl): 128.4; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 39; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): +; fatty liver (ultrasound); metabolic syndrome 1 1 LOVD
00417709 Vlb-34 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-34 M yes Israel Arab - - - - MOSPGF body mass index [kg/m2] (max BMI): 42.2 (45.5); hypertension; fasting glucose: 80; triglycerides (norm 10-150 mg/dl): 225; cholesterol (norm below200 mg/dl): 135; low-density lipoprotein (norm below100-130 mg/dl): 105.5; high-density lipoprotein (norm (norm M above 40; F above 50 mg/dl): 30; elevated liver enzymes (gamma-glutamyltransferase, glutamate-oxalacetate transaminase, glutamate-pyruvate transaminase): no; fatty liver (ultrasound); metabolic syndrome; azoospermia; intellectual disability 1 1 LOVD
00417711 501 PubMed: Bolukbasi 2018 large consanguineous family, individual 501 F - Chile - - - - - BBS primary features: rod-cone dystrophy: absent; polydactyly in hands/feet: bilateral postaxial type b/bilateral postaxial type a; obesity (BMI): overweight (25.6); intellectual disability: absent; renal anomaly: absent; urogenital abnormality: not ascertained; secondary features: enlarged fatty liverabsent; physical disability; neuromotor problem: absent; speech disorder: absent; aggressive behaviour: absent; dental anomalies: absent; developmental delay: absent; diabetes: absent; ataxia/poor coordination: absent; syndactyly/brachydactyly: absent/absent; exotropia of right eye: present; shortness of breath: present; diverse symptoms: retroverted uterus 1 1 LOVD
00417712 502 PubMed: Bolukbasi 2018 large consanguineous family, individual 502 M - Chile - - - - - BBS primary features: rod-cone dystrophy: not ascertained; polydactyly in hands/feet: absent/bilateral postaxial type a; obesity (BMI): overweight (26.3); intellectual disability: absent; renal anomaly: not ascertained; urogenital abnormality: not ascertained; secondary features: enlarged fatty livernot ascertained; physical disability; neuromotor problem: absent; speech disorder: absent; aggressive behaviour: absent; dental anomalies: absent; developmental delay: absent; diabetes: not ascertained; ataxia/poor coordination: absent; syndactyly/brachydactyly: absent/absent; exotropia of right eye: not ascertained; shortness of breath: absent; diverse symptoms: absent 1 1 LOVD
00417713 503 PubMed: Bolukbasi 2018 large consanguineous family, individual 503 M - Chile - - - - - BBS primary features: rod-cone dystrophy: present, retinitis pigmentosa early features; polydactyly in hands/feet: bilateral postaxial type a/bilateral postaxial type a; obesity (BMI): absent (20); intellectual disability: severe; renal anomaly: parenchymal disease; urogenital abnormality: not ascertained; secondary features: enlarged fatty liverabsent; physical disability; neuromotor problem: severe, walks with support; speech disorder: present; aggressive behaviour: absent; dental anomalies: present; developmental delay: severe; diabetes: absent; ataxia/poor coordination: absent; syndactyly/brachydactyly: absent/absent; exotropia of right eye: absent; shortness of breath: present; diverse symptoms: sparse hair; enuresis; enlarged head; frontal bossing 1 1 LOVD
00417714 505 PubMed: Bolukbasi 2018 large consanguineous family, individual 505 F - Chile - - - - - BBS primary features: rod-cone dystrophy: present, optic nerve atrophy; polydactyly in hands/feet: bilateral postaxial type b/bilateral postaxial type a; obesity (BMI): overweight (27.0); intellectual disability: severe; renal anomaly: absent; urogenital abnormality: not ascertained; secondary features: enlarged fatty liverpresent; physical disability; neuromotor problem: absent; speech disorder: present; aggressive behaviour: absent; dental anomalies: present; developmental delay: severe; diabetes: not ascertained; ataxia/poor coordination: absent; syndactyly/brachydactyly: absent/absent; exotropia of right eye: present; shortness of breath: present; diverse symptoms: absent 1 1 LOVD
00417715 507 PubMed: Bolukbasi 2018 large consanguineous family, individual 507 F - Chile - - - - - BBS primary features: rod-cone dystrophy: not ascertained; polydactyly in hands/feet: bilateral postaxial type b/-; obesity (BMI): absent (23.0; 74th centile); intellectual disability: absent; renal anomaly: not ascertained; urogenital abnormality: not ascertained; secondary features: enlarged fatty livernot ascertained; physical disability; neuromotor problem: absent; speech disorder: absent; aggressive behaviour: absent; dental anomalies: absent; developmental delay: absent; diabetes: not ascertained; ataxia/poor coordination: absent; syndactyly/brachydactyly: absent/absent; exotropia of right eye: not ascertained; shortness of breath: present; diverse symptoms: absent 1 1 LOVD
00417716 508 PubMed: Bolukbasi 2018 large consanguineous family, individual 508 F - Chile - - - - - BBS primary features: rod-cone dystrophy: present; polydactyly in hands/feet: bilateral postaxial type b/-; obesity (BMI): severe(37.5); intellectual disability: present; renal anomaly: parenchymal disease; urogenital abnormality: not ascertained; secondary features: enlarged fatty liverpresent; physical disability; neuromotor problem: absent; speech disorder: absent; aggressive behaviour: absent; dental anomalies: absent; developmental delay: absent; diabetes: present; ataxia/poor coordination: absent; syndactyly/brachydactyly: absent/absent; exotropia of right eye: absent; shortness of breath: present; diverse symptoms: absent 1 1 LOVD
00417717 509 PubMed: Bolukbasi 2018 large consanguineous family, individual 509 M - Chile - - - - - BBS primary features: rod-cone dystrophy: present, early features; polydactyly in hands/feet: bilateral postaxial type a/bilateral mesoaxial; obesity (BMI): severe(36.3); intellectual disability: present; renal anomaly: absent; urogenital abnormality: not ascertained; secondary features: enlarged fatty liverpresent; physical disability; neuromotor problem: absent; speech disorder: absent; aggressive behaviour: present; dental anomalies: present; developmental delay: present; diabetes: not ascertained; ataxia/poor coordination: absent; syndactyly/brachydactyly: 2/3 toes syndactyly, right/absent; exotropia of right eye: present; shortness of breath: present; diverse symptoms: overriding sixth toe, left; hyperphagy; insomnia; low hairline, hypertensive 1 1 LOVD
00417718 511 PubMed: Bolukbasi 2018 large consanguineous family, individual 511 F - Chile - - - - - BBS primary features: rod-cone dystrophy: not ascertained; polydactyly in hands/feet: -/bilateral postaxial type a; obesity (BMI): present(33.6); intellectual disability: absent; renal anomaly: not ascertained; urogenital abnormality: not ascertained; secondary features: enlarged fatty livernot ascertained; physical disability; neuromotor problem: absent; speech disorder: absent; aggressive behaviour: absent; dental anomalies: absent; developmental delay: absent; diabetes: not ascertained; ataxia/poor coordination: absent; syndactyly/brachydactyly: absent/absent; exotropia of right eye: not ascertained; shortness of breath: not ascertained; diverse symptoms: absent 1 1 LOVD
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