Disease #00763 (PDHAD (pyruvate dehydrogenase E1-alpha deficiency (PDHAD, Leigh syndrome, X-linked)), OMIM:312170)

Official abbreviation PDHAD
Name pyruvate dehydrogenase E1-alpha deficiency (PDHAD, Leigh syndrome, X-linked)
OMIM ID 312170
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 4
Associated with 1 gene PDHA1
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Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00032713 - - - M no Spain - - 0 - - PDHAD - PDHA1 PDHA1 1 1 Claudio Asencio Salcedo
00080896 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - PDHAD Pyruvate dehydrogenase E1-alpha deficiency (OMIM:312170) PDHA1 PDHA1 1 1 Daniel Trujillano
00306238 - - - F no China Chinese - - - - PDHAD - PDHA1 PDHA1 1 1 Yan Cai
00373720 iw138 - - F no China Chinese - - - - PDHAD HP:0001252; HP:0001250; HP:0025336; HP:0032989; HP:0001270; HP:0012766 PDHA1 PDHA1 1 1 Wenjuan Qiu
00375528 180764 - - F no Germany - - 0 - - PDHAD Hydrocephalus, Morphological central nervous system abnormality, EEG abnormality, Congenital lactic acidosis PDHA1 PDHA1 1 1 Andreas Laner
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