Succinate dehydrogenase A deficiency
SDHA deficiency

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Prevalence (%) of clinical parameters based on data from 2 references describing 15 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Spasticity nervous 100 % 19465911 2013-04-11
Leukodystrophy nervous 100 % 19465911 2013-04-11
Succinate accumulation nervous 100 % 19465911 2013-04-11
Dystonia nervous 100 % 19465911 2013-04-11
Short stature multi 71 % 19465911 2013-04-11
Developmental delay nervous 50 % 23322652 2013-04-12
Hypotonia nervous 50 % 23322652 2013-04-12
Myopathy skeletal 40 % 23322652 2013-04-12
Optic atrophy nervous 40 % 23322652 2013-04-12
Ataxia nervous 38 % 23322652 2013-04-12
Developmental delay nervous 29 % 19465911 2013-04-11
Lactate accumulation nervous 17 % 19465911 2013-04-11
Hearing loss nervous 14 % 19465911 2013-04-11
Vomiting digestive 14 % 19465911 2013-04-11
Cerebellar atrophy nervous 14 % 23322652 2013-04-12



List of references:


SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
Daniele Ghezzi, Paola Goffrini, Graziella Uziel, Rita Horvath, Thomas Klopstock, Hanns Lochm├╝ller, Pio D'Adamo, Paolo Gasparini, Tim M Strom, Holger Prokisch, Federica Invernizzi, Ileana Ferrero, Massimo Zeviani,



Nature genetics - Jun 2009



Complex II deficiency--a case report and review of the literature.
Shailly Jain-Ghai, Jessie M Cameron, Almundher Al Maawali, Susan Blaser, Nevena MacKay, Brian Robinson, Julian Raiman,



American journal of medical genetics. Part A - Feb 2013