Phenotypes for disease #00320 (MTDPS6 (mitochondrial DNA depletion syndrome (hepatocerebral), type 6 (MTDPS-6)), OMIM:256810)

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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     
0000003240 - - - Unknown - - - - - Carl Fratter 00004533
0000060374 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type (OMIM:256810) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080805
0000116426 Liver dysfunction Liver failure Hepatomegaly Cholestasis Steatosis Liver cirrhosis Developmental delay Hypotonia Microcephaly Retinopathy Lactic acidemia Hypoglycemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) - - Familial, autosomal recessive - - - 1m - Hongzheng Dai 00143674
0000116427 Liver dysfunction Liver failure Hepatomegaly Cholestasis Steatosis Liver cirrhosis Developmental delay Hypotonia Microcephaly Retinopathy Lactic acidemia Hypoglycemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) - - Familial, autosomal recessive - - - - - Hongzheng Dai 00143675
0000116428 Liver dysfunction Liver failure Hepatomegaly Cholestasis Developmental delay Hypotonia Microcephaly Lactic acidemia Failure to thrive Feeding difficulties 8% mtDNA in liver - - Familial, autosomal recessive - - - - - Hongzheng Dai 00143676
0000116431 Liver dysfunction Liver failure Hepatomegaly Cholestasis Steatosis Developmental delay Hypotonia Microcephaly Lactic acidemia Hypoglycemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) 16% mtDNA in liver - - Familial, autosomal recessive - - - - - Hongzheng Dai 00143678
0000116432 Liver dysfunction Liver failure Hepatomegaly Cholestasis Developmental delay Hypotonia Microcephaly White matter abnormalities  Basal ganglia abnormal signal Lactic acidemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) - - Familial, autosomal recessive - - - - - Hongzheng Dai 00143679
0000116433 Liver dysfunction Liver failure Hepatomegaly Cholestasis Steatosis Developmental delay Hypotonia Microcephaly Lactic acidemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) - - Familial, autosomal recessive - - - - - Hongzheng Dai 00143680
0000116434 Liver dysfunction Cholestasis Steatosis Liver cirrhosis Developmental delay Peripheral neuropathy Lactic acidemia Hypoglycemia Failure to thrive Low CI Low CIII 20% mtDNA in liver - - Familial, autosomal recessive - - - - - Hongzheng Dai 00143681
0000116435 Liver dysfunction Hepatomegaly Cholestasis Steatosis Developmental delay Lactic acidemia Failure to thrive Feeding difficulties GI dysmotility (GER, recurrent vomiting or diarrhea) Low CI Low CIII Low CIv 3% mtDNA in liver - - Familial, autosomal recessive - - - - - Hongzheng Dai 00143682
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