Phenotypes for disease #01740

14 entries on 1 page. Showing entries 1 - 14.
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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     
0000017775 core clinical features: progressive neonatal hypertrophic, cardiomyopathy, lactic acidosis, muscular hypotonia: other features: pulomonary hypertension, persistent ductus arteriosus, dysmorphic features (small chin flat orbital bridges) - - Unknown - - - - - Richard Rodenburg 00020015
0000083729 see paper; ..., mitochondrial complex IV deficiency (HP:0008347), neurodevelopmental regression (HP:0002376), medulla oblongata lesions (HP:0011441) - - Familial, autosomal recessive - - - - - Herma Renkema 00095413
0000105551 - - - Familial, autosomal recessive - - - - - Daniele Ghezzi 00132782
0000153418 Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts) - - Familial, autosomal recessive - - 00y00m45d? - - Sze Chern Lim 00205226
0000153420 Decreased activity of mitochondrial complex IV (HP:0008347) (muscle, fibroblasts, liver) - - Familial, autosomal recessive - - - - - Sze Chern Lim 00204778
0000154806 Decreased activity of mitochondrial complex IV (HP:0008347) (muscle, fibroblasts) - - Familial, autosomal recessive - - - - - Sze Chern Lim 00207012
0000154808 Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts) - - Familial, autosomal recessive - - - - - Sze Chern Lim 00207013
0000154810 Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts) - - Familial, autosomal recessive - - - - - Sze Chern Lim 00207014
0000155192 Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts) - - Familial, autosomal recessive - - - - - Sze Chern Lim 00207418
0000155195 Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts) - - Familial, autosomal recessive - - - - - Sze Chern Lim 00207419
0000155197 Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts) - - Familial, autosomal recessive - - 00y06m - - Sze Chern Lim 00207420
0000155199 Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts, liver) - - Familial, autosomal recessive - - - - - Sze Chern Lim 00207421
0000155201 Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts, muscle and liver) - - Familial, autosomal recessive - - - - - Sze Chern Lim 00207422
0000155202 Severe lactic acidosis(HP:0003128), Cranial ultrasound showed bilateral intraventricular cysts within the frontal horns and anterior portions of the lateral ventricles. Severely impaired liver function. - - Familial, autosomal recessive - - - - - Sze Chern Lim 00207423
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