Phenotypes for disease #01694 (CDSP (carnitine deficiency, systemic primary (CDSP)), OMIM:212140)

9 entries on 1 page. Showing entries 1 - 9.
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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     
0000143326 - - - Familial, autosomal recessive - - - - - Belen Perez 00181073
0000154473 No symptoms - Adult - Newborn screening - - Unknown - 30y - - - Nicola Longo 00206587
0000227594 C0 (free carnitine) value tested by MS/MS: 11.6μmol/L at birth, 4.3μmol/L at 3 years old (reference for C0: 10-60μmol/L) none systemic primary carnitine deficiency Familial, autosomal recessive 00y00m03d 03y - - - Wenjuan Qiu 00300286
0000227902 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00300593
0000227903 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00300594
0000227904 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00300595
0000227905 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00300596
0000227906 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00300597
0000235173 see paper; ... renal carnitine transport deficiency CDSP Familial, autosomal recessive - - - - - Johan den Dunnen 00309858
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