All individuals with variants in gene GMPPB

49 entries on 1 page. Showing entries 1 - 49.
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00054664 Pat20 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >24y 0 - - MDC gross motor delay, walked age 3y, mild facial weakness, choreoathetosis, rhabdomyolysis, moderate developmental delay; CPK elevated (943-6728); histology dystrophic 2 1 Sandra Cooper
00056473 - - 2-generation family, 1 affected, unaffected carrier parents M - Pakistan - >8y 0 - - MEB MEB;WWS; prenatal oligohydramnios; severe intellectual delay; sensorineural hearing loss; ataxia; retinal dysfunction (on electroretinogram); no cardiorespiratory findings; brain MRI pontine and cerebellar hypoplasia; CPK 2,974 max U/l; max motor ability w(support)3y 2 1 Johan den Dunnen
00056474 - - 2-generation family, 1 affected, unaffected carrier parents F - India - >12y 0 - - LGMD2 no prenatal findings; mild intellectual delay; epilepsy; no ophthalmologic findings; no cardiorespiratory findings; brain MRI no structural abnormality; max motor ability run 2 1 Johan den Dunnen
00056475 Pat3/Pat31 PubMed: Carss 2013, PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Mexico - >16y 0 - - MDC no prenatal findings; mild intellectual delay; cataracts; strabismus; ptosis; long QT syndrome; brain MRI no structural abnormality; CPK 7,323 max U/l; max motor ability w3.5y 1 1 Johan den Dunnen
00056476 - - 2-generation family, 1 affected, unaffected carrier mother F - Mexico - >13y 0 - - MDC decreased fetal movement; mild intellectual delay; cataracts; strabismus; intermittent nystagmus; ptosis; left ventricular dilatation; brain MRI no structural abnormality; max motor ability w3y 2 1 Johan den Dunnen
00056477 - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - 14y 0 - - MDC dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; strabismus; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 630 max U/l; max motor ability unable to sit 2 1 Johan den Dunnen
00056478 - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - >10y 0 - - MDC dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; no ophthalmologic findings; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 720 max U/l; max motor ability s2y 2 1 Johan den Dunnen
00056479 - - 2-generation family, 1 affected, unaffected carrier parents M - United Kingdom (Great Britain) - >6y 0 - - LGMD2 no prenatal findings; normal cognitive function; no ophthalmologic findings; no cardiorespiratory findings; CPK 3,000 max U/l; max motor ability run 2 1 Johan den Dunnen
00056480 - - 2-generation family, 1 affected, unaffected carrier parents M - Egypt - >18y 0 - - LGMD2 no prenatal findings; mild intellectual delay; epilepsy; cataracts; nystagmus; wandering atrial pacemaker; cardiomyopathy; respiratory insufficiency; brain MRI no structural abnormality; CPK 5,200 max U/l; max motor ability run 2 1 Johan den Dunnen
00056481 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00056482 - - - F yes United States Hispanic - 0 - - MDC congenital cataracts, motor delays 2 1 Tom Winder
00056483 - - - M - United States white - 0 - - MDC cognitive impairment, seizures, weakness; CPK elevated 2 1 Tom Winder
00056484 - - - F - United States white - 0 - - MDC seizures, mild MR 2 1 Tom Winder
00056485 - - - F - United States - - 0 - - MDC - 2 1 Tom Winder
00056486 - - - F - United States - - 0 - - MDC dystroglycanopathy with MR and seizures; normal eyes. 2 1 Tom Winder
00056487 - - - F - United States - - 0 - - MDC - 2 1 Tom Winder
00056488 - - - - - United States - - 0 - - MDDGB dystroglycanopathy 2 1 Tom Winder
00056489 - - - - - United States - - 0 - - MDDGB dystroglycanopathy 2 1 Tom Winder
00056490 - - - - - United States - - 0 - - MDDGB dystroglycanopathy 2 1 Tom Winder
00056491 - - - - - United States - - 0 - - MDDGB dystroglycanopathy 2 1 Tom Winder
00056492 - - - - - United States - - 0 - - MDDGB dystroglycanopathy 2 1 Tom Winder
00056493 - - - - - United States - - 0 - - MDDGB dystroglycanopathy 1 1 Tom Winder
00056494 - PubMed: Raphael 2014, Journal: Raphael 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/sibs F no United States Jewish-Ashkenazi;Ukrain;Poland;Ireland - 0 - - MEB see paper; alpha-dystroglycanopathy, congenital muscular dystrophy, generalized seizures, developmental delay, elevated serum creatine kinase, microcephaly, plagiocephaly (1), feeding difficulties, proximal weakness, epilepsy ( (absence, myoclonic, drop attacks) (1), strabismus, …; CPK 4233-4505 U/L 2 2 Johan den Dunnen
00056495 - PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015 3-generation family, 2 affected (FM), unaffected heterozygous carrier parents/sibs M no Australia - - 0 - - MDDGB see paper; II2 frequent cramps, enlarged calves, behavioural problems, ...; II3 hyperCK, cramps from age 6, enlarged calves., right bundle branch block, ... 2 2 Johan den Dunnen
00183264 ASHG2018-P1192 Lazar ASHG2018 P1192 - F no Brazil - - 0 - - FSHD ..., muscle weakness, proximal tetraparesis, EMG myopathic 1 1 Johan den Dunnen
00269877 - - - F - - - - 0 - - ? Global developmental delay (HP:0001263); Hyperactivity (HP:0000752); Stereotypy (HP:0000733); Nyctalopia (HP:0000662); Hip dysplasia (HP:0001385) 2 1 IMGAG
00293431 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00307233 D18-0741 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - DA antenatal onset; hydrops fetalis; abnormal facial shape; small anterior fontanelle; sagittal craniosynostosis; hypertelorism; wide mouth; retrognathia; cleft palate; webbed neck; low-set ears; multiple pterygia; bilateral talipes equinovarus (severe); abnormality musculature limbs; abnormality of brain morphology 2 1 Gianina Ravenscroft
00307244 D19-0998 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - DA arthrogryposis multiplex congenita; knee flexion contracture; hip contracture; flexion contracture of finger; wrist flexion contracture; stiff shoulders; overlapping fingers; talipes; limited elbow extension; amyoplasia (not typical); decreased fetal movement (antenatal); diaphragmatic paralysis; elevated serum creatine kinase; hirsutism 2 1 Gianina Ravenscroft
00311109 Pat11 PubMed: Johnson 2018 - F - - white - 0 - - MDDG onset juvenile, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.66; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb and scapular muscle atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 1520 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; 2 1 Johan den Dunnen
00311110 Pat12 PubMed: Johnson 2018 - M - - white - 0 - - MDDG onset childhood, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.59; muscle weakness p roximal upper limb and lower limb; proximal upper limb and scapular muscle atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2390 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; EMG myopathic 2 1 Johan den Dunnen
00311111 Pat13 PubMed: Johnson 2018 - M - - white - 0 - - MDDG onset childhood, slowly progressive; wheelchair bound; previous ventricular septal defects; slight insufficiency of mitral and tricuspid valves; myopia; no brain abnormalities; no intellectual disability; muscle weakness proximal and distal upper limb and lower limb; athletic and muscular build, distal lower limb hypertrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2336 U/L; muscle biopsy myopathic; involvement of dorsalis muscles, gluteus medius and minimus, and iliopsoas muscle with relative sparing of semitendinosus muscle. moderate involvement of adductor magnus muscles. slight involvement of gastrocnemius muscles with its hypertrophy without significant edema; EMG myopathic, positive repetitive nerve stimulation of quadriceps muscle 2 1 Johan den Dunnen
00314325 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 3 Johan den Dunnen
00314326 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 2 Johan den Dunnen
00314327 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00388517 Case 26 - - M no (Korea, South (Republic)) Korea - 0 - - MDDGC - 1 1 Young Jun Ko
00388518 Case 27 - - M no (Korea, South (Republic)) Korea - 0 - - MDDGC - 2 1 Young Jun Ko
00388519 Case 28 - - M no (Korea, South (Republic)) Korea - 0 - - MDDGA - 2 1 Young Jun Ko
00390618 Pat135 PubMed: Song 2021 - M - China - - 0 - - MDDG congenital muscular dystrophy/limb-girdle muscular dystrophy; 1y6m-walk; contractures ankle; no intellectual disability; no seizures; cataract; CK level 2000-6000 IU/L; MRI brain normal 2 1 Johan den Dunnen
00390619 Pat136 PubMed: Song 2021 - M - China - - 0 - - MDDG - 2 1 Johan den Dunnen
00390620 Pat137 PubMed: Song 2021 - M - China - - 0 - - MDDG - 2 1 Johan den Dunnen
00390621 Pat138 PubMed: Song 2021 - M - China - - 0 - - MDDG - 2 1 Johan den Dunnen
00390622 Pat139 PubMed: Song 2021 - F - China - - 0 - - MDDG - 2 1 Johan den Dunnen
00390623 Pat140 PubMed: Song 2021 - F - China - - 0 - - MDDG - 2 1 Johan den Dunnen
00390624 Pat141 PubMed: Song 2021 - F - China - - 0 - - MDDG - 2 1 Johan den Dunnen
00399083 P165 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - 0 - - NMD serum CK 800-1000 U/L; muscle biopsy dystrophic pattern; muscle weakness 1 1 Johan den Dunnen
00403853 TF009 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - 0 - - NDD - 2 1 Johan den Dunnen
00406626 7 - - F - - - - - - - LGMD2T;MDDGC14 - 2 1 Martin Krenn
00406648 18 - - F - - - - - - - LGMD2T;MDDGC14 - 2 1 Martin Krenn
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