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210200.G.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Feeding difficulties ; Episodic vomiting ; Diarrhea ; Lethargy ; Hypotonia
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_020166.5:c.89+2_89+34del
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
NM_020166.5:c.694C>T
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
NM_020166.5:c.1106C>G
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
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Remarks
3 mutations identified in unknown number of patients with 3-Methylcrotonyl-CoA carboxylase deficiency type I
References
Al-Shamsi et al. 2014
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