Disease #00038 (CPS1D (carbamoylphosphate synthetase I deficiency))

Official abbreviation CPS1D
Name carbamoylphosphate synthetase I deficiency
OMIM ID -
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene CPS1
Associated tissues -
Disease features -
Remarks -


Individuals

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Owner     
00000238 Ernie Zuraida Ali et al. 2016) F Malaysia - - - - CPS1D - CPS1 CPS1 8 1 Nuur Athirah Binti Mohd Daud
00000239 Ernie Zuraida Ali et al. (2016) M Malaysia - - - - CPS1D - CPS1 CPS1 2 1 Nuur Athirah Binti Mohd Daud
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