Phenotypes for disease #02812 (LCHADD (LCHAD deficiency), OMIM:609016)

29 entries on 1 page. Showing entries 1 - 29.
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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     
0000143402 - - - Familial, autosomal recessive - - - - - Belen Perez 00181030
0000346134 see paper; ..., lethargy; muscle pain; depression; cardiac episode with ventricular tachycardia; retinitis pigmentosa; mother pregnancy HELLP syndrome; sister died (9m) LCHAD deficiency LCHADD Familial, autosomal recessive 22y - 00y04m lethargy - Johan den Dunnen 00457675
0000346135 see paper; ..., hypoglycemia; exercise-induced muscle pain; multiple hospitalizations (hypoglycemia); retinitis pigmentosa; pregnancy unremarkable LCHAD deficiency LCHADD Familial, autosomal recessive 19y - 00y06m hypoglycemia - Johan den Dunnen 00457676
0000346136 see paper; ..., newborn screening; exercise-induced muscle pain; retinitis pigmentosa; mother pregnancy HELLP syndrome newborn screening LCHADD Familial, autosomal recessive 10y - 10y - - Johan den Dunnen 00457677
0000346137 see paper; ..., newborn screening: hypoglycemia; failure to thrive; muscle pain; retinitis pigmentosa; mother pregnancy preeclampsia newborn screening LCHADD Familial, autosomal recessive 05y - 05y hypoglycemia - Johan den Dunnen 00457678
0000346143 see paper; ..., hepatic, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457684
0000346144 see paper; ..., hepatic, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457685
0000346145 see paper; ..., hepatic, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457686
0000346146 see paper; ..., hepatic, mother pregnancy HELLP syndrome LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457687
0000346147 see paper; ..., hepatic/cardiac dysfunction, mother pregnancy HELLP syndrome LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457688
0000346148 see paper; ..., hepatic, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457689
0000346149 see paper; ..., hepatic, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457690
0000346150 see paper; ..., hepatic LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457691
0000346151 see paper; ..., hepatic/cardiac dysfunction, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457692
0000346152 see paper; ..., hepatic, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457693
0000346153 see paper; ..., hepatic, mild cardiomyopathy, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457694
0000346154 see paper; ..., hepatic, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457695
0000346155 see paper; ..., hepatic, peripheral neuropathy, myopathy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457696
0000346156 see paper; ..., hepatic, mother pregnancy HELLP syndrome LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457697
0000346157 see paper; ..., hepatic LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457698
0000346158 see paper; ..., hepatic, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457699
0000346159 see paper; ..., hepatic, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457700
0000346160 see paper; ..., hepatic LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457701
0000346161 see paper; ..., hepatic, mother acute fatty liver of pregnancy LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457702
0000346162 see paper; ..., cardiac LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457703
0000346163 see paper; ..., cardiac LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457704
0000346164 see paper; ..., cardiac LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457705
0000346165 see paper; ..., neuromuscular LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457706
0000346166 see paper; ..., neuromuscular LCHAD deficiency LCHADD Familial, autosomal recessive - - - - - Johan den Dunnen 00457707
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