Phenotypes for disease #00132 (FBP1D (Fructose-1,6-bisphosphatase Deficiency), OMIM:229700)

7 entries on 1 page. Showing entries 1 - 7.
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Phenotype details     

Inheritance     

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Individual ID     
0000000260 Age onset: 2y, has hepatomegaly, hyperlactacidemia triggered by upper respiratory tract infection, short stature - Nur Aisyah Athirah 00000717
0000000261 Age onset: 22d, severe metabolic acidosis, hyperlactacidemia, hypoglycemia and hepatomegaly - Nur Aisyah Athirah 00000723
0000000262 Severe metabolic acidosis, hyperlactacidemia. Passed away after two weeks in intensive care due to sepsis and multiorgan failure. - Nur Aisyah Athirah 00000722
0000000263 Age onset: 15m, Severe metabolic acidosis, hyperlactacidemia, ketotic hypoglycemia, hepatomegaly, status epilepticus precipitated by fever and reduced oral intake, Left hemiparesis, mild development delay. - Nur Aisyah Athirah 00000721
0000000264 Age onset: infancy, has Hypoglycemia, metabolic acidosis. - Nur Aisyah Athirah 00000720
0000000265 Age onset: 13m, has Severe metabolic acidosis, ketotic hypoglycemia. - Nur Aisyah Athirah 00000719
0000000267 Age onset: 18m, has Ketotic hypoglycemia, metabolic acidosis, hepatomegaly precipitated by febrile illness - Nur Aisyah Athirah 00000718
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