All individuals with variants in gene CHKB

34 entries on 1 page. Showing entries 1 - 34.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00035204 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035205 - - - - - Germany - - - - - ? CK 10.000, proximal myasthenia, progressive 1 1 Andreas Laner
00035206 - - - - - Germany - - - - - ? CK 10.000, proximal myasthenia, progressive 1 1 Andreas Laner
00035207 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035208 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035209 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035210 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035211 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035212 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035213 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035214 - - - - - Germany - - - - - - - 1 1 Andreas Laner
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
00205275 - PubMed: Mitsuhashi 2011 - M - Japan - 23y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 190-2676; floppy at birth; cardiomyopathy; no skin change; muscle (1y2m)-necrotic fiber, regenerative fiber, endomysial fibrosis, mitochondrial enlargement; seizures; walk 1y9m 2 1 Johan den Dunnen
00205276 - PubMed: Mitsuhashi 2011 - F - Japan - 13y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 370; floppy at birth; cardiomyopathy; no skin change; muscle (7y3m)-necrotic fiber, regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; walk 2y6m 2 1 Johan den Dunnen
00205277 - PubMed: Mitsuhashi 2011 sibling of 21665002-Pat4 F - Japan - >28y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 502; floppy at birth; cardiomyopathy; no skin change; muscle (8y)-necrotic fiber, regenerative fiber, endomysial fibrosis, mitochondrial enlargement; seizures; walk 1y6m 2 2 Johan den Dunnen
00205278 - PubMed: Mitsuhashi 2011 sibling of 21665002-Pat3 M - Japan - >22y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 230; floppy at birth; no cardiomyopathy; no skin change; muscle (4y11m)-necrotic fiber, regenerative fiber, endomysial fibrosis, mitochondrial enlargement; seizures; walk 2y6m 2 1 Johan den Dunnen
00205279 - PubMed: Mitsuhashi 2011 - M - Turkey - >7y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 843; not floppy at birth; no cardiomyopathy; skin change; muscle (6y)-weakly necrotic fiber, regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; walk 2y6m 2 1 Johan den Dunnen
00205280 - PubMed: Mitsuhashi 2011 - M - Turkey - 2y6m - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 258; floppy at birth; cardiomyopathy; no skin change; muscle (1y3m)-weakly necrotic fiber, weakly regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; inability to walk (HP:0002540) 2 1 Johan den Dunnen
00205281 - PubMed: Mitsuhashi 2011 - F - Turkey - >2y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 368; not floppy at birth; no cardiomyopathy, patent ductus arteriosus; no skin change; muscle (9m)-no necrotic fiber, weakly regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; inability to walk (HP:0002540) 2 1 Johan den Dunnen
00205282 - PubMed: Mitsuhashi 2011 - M - Turkey - >13y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 1122; no cardiomyopathy; no skin change; muscle (12y10m)-weakly necrotic fiber, weakly regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; walk 2y 2 1 Johan den Dunnen
00205283 - PubMed: Mitsuhashi 2011 - F - Turkey - >17y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 2669; floppy at birth; no skin change; muscle (17y)-weakly necrotic fiber, weakly regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; walk 3y 2 1 Johan den Dunnen
00205284 - PubMed: Mitsuhashi 2011 - F - Turkey - >3y3m - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 497; floppy at birth; no skin change; muscle (3y)-weakly necrotic fiber, no regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; inability to walk (HP:0002540) 2 1 Johan den Dunnen
00205285 - PubMed: Mitsuhashi 2011 - F - Turkey - >16y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 1103; floppy at birth; no cardiomyopathy, atrial septal defect; skin change; muscle (3y)-no necrotic fiber, weakly regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; walk 3y 2 1 Johan den Dunnen
00205286 - PubMed: Mitsuhashi 2011 - F - Turkey - >5y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 467; not floppy at birth; no cardiomyopathy, mitral vavlve prolapse; skin change; muscle (4y6m)-weakly necrotic fiber, regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; walk 3y6m 2 1 Johan den Dunnen
00205287 - PubMed: Mitsuhashi 2011 - M - Turkey - >3y6m - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 428; floppy at birth; cardiomyopathy; skin change; muscle (3y)-necrotic fiber, regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; inability to walk (HP:0002540) 2 1 Johan den Dunnen
00205288 - PubMed: Mitsuhashi 2011 - F - Turkey - >6y4m - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 1606; not floppy at birth; cardiomyopathy; no skin change; muscle (4y)-necrotic fiber, regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; walk 1y3m 2 1 Johan den Dunnen
00205289 - PubMed: Mitsuhashi 2011 - M - United Kingdom (Great Britain) - 8y - - - MDC intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 607-1715; not floppy at birth; cardiomyopathy; muscle (2y2m)-necrotic fiber, no regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; walk 3y4m 2 1 Johan den Dunnen
00205290 - PubMed: Sher 2006, PubMed: Wu 2009 spontaneous mouse mutant - - - - - - - - MDC dystrophy, muscular, rostrocaudal 1 1 Johan den Dunnen
00274437 Pat39 PubMed: Park 2017 - F - Korea - - - - - MD proximal muscle weakness, facial weakness and respiratory failure; muscle myopathic pattern; elevated CK (121 IU/L); ECG or echo normal; familial 1 1 Johan den Dunnen
00391940 MDCRC/0146/B-153 PubMed: Karthikeyan 2024 - M yes India - - - yes - DMD proximal muscle weakness (HP:0003701), difficulty climbing stairs (HP:0003551) 1 1 Lakshmi Bremadesam
00434658 PatN7 PubMed: Chen 2022 - F - United States - - - - - NDD see paper; ..., motor delay, mild truncal hypotonia, mild hemihypertrophy left side ace, bilateral clinodactyly, hyperextensibility; attention deficit hyperactivity disorder, significant difficulties in school; MRI brain retrocerebellar fluid collection consistent with enlarged magna cisterna; no seizures; no intellectual disability; developmental delay, motor delay; learning disability; attention deficit hyperactivity disorder; no seizures; no spasticity; no hypertonia; hypotonia; difficulty moving arms and legs simultaneously; no open mouth; no drooling; no meningomyelocele; no polymicrogyria ; no pachygyria; enlarged cisterna magna; facial asymmetry, left face mild hemihypertrophy; no epicanthal fold ; no dysmorphic ears; no asthma; joint hypermobility; no scoliosis; no vertebral segmentation defect; no narrow chest; no talipes equinovarus; clinodactyly; no umbilical hernia; no imperforated anus ; no rectovaginal fistula; no single kidney; MRI brain retrocerebellar fluid collection consistent with an enlarged cisterna magna 1 1 Johan den Dunnen
00442640 Pat12 PubMed: Westra 2019 - M - - - - - - - NMD Weakness: lower limb > upper limbs; proximal > distal; axial weakness, scoliosis; muscle biopsy: increase in fiber size variation, proliferation of endomysial and perimysial connective tissues, limited immunostaining for merosin and dystrophin 1,2,3 positive 1 1 Johan den Dunnen
00453353 Fam4PatIV1 PubMed: Ghasemi 2024 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iran - - - - - autism developmental delay, intellectual disability, learning disability, autism, no epilepsy, language/speech delay, no ADHD, repetitive movement and behavior, muscular dystrophy, hypotonia, abnormal gait, no obesity, no acrophobia 1 1 Johan den Dunnen
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