606054.6.1

Country

United Arab Emirates

HPO Terms

Progressive encephalopathy; Feeding difficulties; Lethargy; Respiratory failure; Generalized hypotonia; Neonatal sepsis; Metabolic acidosis; Hyperammonemia; Elevated circulating creatinine concentration; Leukopenia; Lymphopenia; Neutropenia; Propionic acidemia; Hypotension; Hyponatremia; Hypokalemia; Hypocalcemia; Hypophosphatemia; Hypomagnesemia; Hyperammonemia; Hypertension; Patent ductus arteriosus; Seizure cluster; Edema; Pancytopenia; Abnormality of coagulation; Tachycardia; Congestive heart failure; Hyperthyroidism; Short stature; Decreased head circumference; Neonatal onset

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000282.4:c.2158_2159insT	2		Propionic Acidemia

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Remarks

Proband. She has a healthy sibling

References

Sakrani et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
606054.6.2	United Arab Emirates		Male			Father of the proband
606054.6.3	United Arab Emirates		Female			Mother of the proband