All individuals with variants in gene SDHA

60 entries on 1 page. Showing entries 1 - 60.
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00036998 - - - - - Germany - - 0 - - ? normal birth and psychomotor development, abnormal motor function in the left arm at age 15 month, bilateral calcifications in basal ganglia in CT of brain 1 1 Andreas Laner
00036999 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037000 - - - - - Germany - - 0 - - ? pronounced hypotonia, motor developmental delay, failure to thrive, MRI: hypomyelination, muscle biopsy: complex 2 deficiency; child of healthy non consanguineous parents: other patient: suspected familiar tumour disease, GIST at the age of 38 1 1 Andreas Laner
00072357 - - OMIM600857:0002; 1 isolated case - - - - - 0 - - LS - 2 1 Tonino Ercolino
00072358 - - 1 isolated case - - - - - 0 - - LS Epilepsy, psychomotor retardation, and tetraspasticity. 2 1 Jean-Pierre Bayley
00072359 - - 1 family 2 affected - - - - - 0 - - OPA Ataxia, Myopathy 1 1 Tonino Ercolino
00072360 - - OMIM600857:0001; 1 family 2 affected - - - - - 0 - - LS Leukodystrophy 2 1 Tonino Ercolino
00072361 - - OMIM600857:0004 - - - - - 0 - - LS - 2 1 Tonino Ercolino
00072963 - - 1 isolated case - - France - - 0 - - PGL First SDHA-associated paraganglioma 1 1 Jean-Pierre Bayley
00072964 - - - - - - - - 0 - - ? - 1 1 Jean-Pierre Bayley
00072965 - - - - - - - - 0 - - ? - 1 2 Jean-Pierre Bayley
00072966 - - - - - - - - 0 - - ? - 1 1 Jean-Pierre Bayley
00072967 - - - - - - - - 0 - - ? - 1 1 Jean-Pierre Bayley
00072985 - - OMIM600857:0004; 1 family 15 affected - - - Bedouin - 0 - - CM familial neonatal isolated cardiomyopathy; 15 Bedouin patients with familial neonatal isolated cardiomyopathy 1 1 Jean-Pierre Bayley
00073069 - - 5 isolated cases - - - Dutch - 0 - - PGL - 1 1 Jean-Pierre Bayley
00073070 - - 1 isolated case - - France - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00073071 - - 1 isolated case - - Italy - - 0 - - cancer - 2 1 Jean-Pierre Bayley
00073072 - - 1 isolated case - - Italy - - 0 - - cancer - 1 1 Jean-Pierre Bayley
00073073 - - 1 isolated case - - - - - 0 - - LS death in infancy – respiratory infection and severe hypoglycemia 1 1 Jean-Pierre Bayley
00073084 - - 1 isolated case - - - - - 0 - - cancer Pediatric-type GIST. 1 1 Jean-Pierre Bayley
00073085 - - 1 isolated case - - - - - 0 - - cancer Pediatric-type GIST. 1 1 Jean-Pierre Bayley
00073086 - - 1 isolated case - - - - - 0 - - cancer Pediatric-type GIST. 1 1 Jean-Pierre Bayley
00073096 - - - - - - - - 0 - - LS - 2 1 Herma Renkema
00073097 - - - - - - - - 0 - - LS no basal ganglia involvement 2 1 Herma Renkema
00073099 - - This patient is the same as described by {PMID16361598:Horvath et al. (2006)} - - - - - 0 - - LS - 2 1 Herma Renkema
00079373 - PubMed: Alston mixed ethnicity parents - - United Kingdom (Great Britain) - - 0 - - ? Cardiomyopathy 2 1 Jean-Pierre Bayley
00079375 - PubMed: Belinsky Wild type GIST - - United States - - 0 - - cancer - 1 1 Jean-Pierre Bayley
00079376 - PubMed: Belinsky, PubMed: Miettinen Wild type GIST, SDHA positive gist - - United States - - 0 - - cancer - 2 2 Jean-Pierre Bayley
00079377 - PubMed: Belinsky, PubMed: Pantaleo Wild type GIST - - United States - - 0 - - cancer Pheo;PGL 1 2 Jean-Pierre Bayley
00079391 - PubMed: von Dobschuetz - - - - - - 0 - - PGL Hemangiopericytoma/PGL 1 1 Jean-Pierre Bayley
00079392 - PubMed: von Dobschuetz - - - - - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079393 - PubMed: Dwight 1 families 1 affected; Somatic - - Australia - - 0 - - ? - 2 1 Jean-Pierre Bayley
00079401 - PubMed: Gill - - - Australia - - 0 - - ? Unilateral Pheo 2 1 Jean-Pierre Bayley
00079420 - PubMed: Ma 11 years old - - China - - 0 - - ENC primary bladder PGL 2 1 Jean-Pierre Bayley
00079421 - PubMed: Mason loss of SDHA staining - - Canada; United States - - 0 - - PGL - 2 1 Jean-Pierre Bayley
00079422 - PubMed: Miettinen SDHA positive GIST - - United States - - 0 - - cancer - 1 1 Jean-Pierre Bayley
00079427 - PubMed: Miettinen SDHA negative GIST - - United States - - 0 - - cancer - 1 1 Jean-Pierre Bayley
00079428 - PubMed: Miettinen SDHA negative GIST - - United States - - 0 - - cancer - 1 1 Jean-Pierre Bayley
00079429 - PubMed: Miettinen SDHA negative GIST - - United States - - 0 - - cancer - 1 1 Jean-Pierre Bayley
00079430 - PubMed: Miettinen SDHA negative GIST - - United States - - 0 - - cancer - 1 1 Jean-Pierre Bayley
00079431 - PubMed: Miettinen SDHA positive GIST - - United States - - 0 - - cancer - 1 1 Jean-Pierre Bayley
00079433 - PubMed: Pantaleo - - - Italy - - 0 - - cancer - 1 1 Jean-Pierre Bayley
00079434 - PubMed: Pantaleo - - - Italy - - 0 - - cancer Metastatic 2 1 Jean-Pierre Bayley
00079441 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079442 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079443 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079444 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079447 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL Pheo;PGL 1 1 Jean-Pierre Bayley
00079451 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00079453 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079454 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079455 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079456 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079457 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079464 - PubMed: Welander, PubMed: Welander 20 year old female - - Sweden - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079465 - PubMed: Welander - - - Sweden - - 0 - - PGL Pheo;PGL 1 1 Jean-Pierre Bayley
00079466 - PubMed: Dénes - - - - - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00092277 - PubMed: Boikos Carney triad = paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas M ? United States - - 0 - - Carney complex variant Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas 1 1 Jean-Pierre Bayley
00092278 - PubMed: Boikos Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas F ? United States - - 0 - - Carney complex variant Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas 1 1 Jean-Pierre Bayley
00219174 Proband-Fam PubMed: Zhang 2018 3-generation family, proband, affected younger brother (41y) and niece (17y), mother (38y) died from sudden cardiac death F;M ? China - - 0 - - CMD Left atrial enlargement (HP:0031295), abnormal left ventricle morphology (HP:0001711), syncope (HP:0001279) 1 3 Jilani Jawaid
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