Phenotypes for disease #04455 (ECHS1D (enoyl-CoA hydratase 1 deficiency, short-chain, mitochondrial (ECHS1D)), OMIM:616277)

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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     
0000231991 6M-regression 2Y metabolic decompensation with lactic acidosis and ketosis MRI-Leigh's disease milder clinical course than his brothers 14Y decreased vision and intermittent nystagmus,wheelchair bound slurred speech and drooling joint contractures Mitochondrial Disease ECHS1 disease Familial, autosomal recessive 16y 14y 00y06m - - Mariella Simon 00306146
0000231992 Suspected Mitochondrial Disease Died before dx was made Regression after multiple decompensations, Leigh Syndrome Mitochondrial Disease ECHS1 disease Familial, autosomal recessive - - - 6m - Mariella Simon 00306147
0000231993 hypertonicity MRI-Leigh syndrome developmental delay recurrent metabolic crises with acidosis and ketosis truncal hypotonia hypertonia in extremities non-ambulatory nystagmus dysphagia Mitochondrial Disease ECHS1 disease Familial, autosomal recessive 08y 06y 00y13m - Has enzymatic studies confirming ECHS1 disease Mariella Simon 00306149
0000231994 regression metabolic decompensations nystagmus MRI-Leigh syndrome truncal hypotonia, hypertonia in extremities lactic acidosis non ambulatory Mitochondrial Disease ECHS1 disease Familial, autosomal recessive 08y 08y 00y08m 8m Has enzymatic studies confirming ECHS1 disease Mariella Simon 00306150
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