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

4 entries on 1 page. Showing entries 1 - 4.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000026147 - - - Isolated (sporadic) - - - - - Claudio Asencio Salcedo 00032713
0000060465 Pyruvate dehydrogenase E1-alpha deficiency (OMIM:312170) - - Isolated (sporadic) - - - - - Daniel Trujillano 00080896
0000268945 HP:0001252; HP:0001250; HP:0025336; HP:0032989; HP:0001270; HP:0012766 - Pyruvate dehydrogenase E1-alpha deficiency (OMIM 312170) Familial, X-linked dominant - - - - - Wenjuan Qiu 00373720
0000270742 Hydrocephalus, Morphological central nervous system abnormality, EEG abnormality, Congenital lactic acidosis - 02m Familial, X-linked dominant - - - - - Andreas Laner 00375528
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