606003.7

Country

United Arab Emirates

HPO Terms

Failure to thrive in infancy; Hepatomegaly; Cirrhosis; Thrombocytopenia; Leukopenia; Horizontal nystagmus; Narrow face; Ichthyosis; Scaling skin; Hypergonadotropic hypogonadism; Moderate albuminuria; Stage 2 chronic kidney disease; Increased urinary sedoheptulose; Increased level of ribitol in urine; Elevated urine arabitol level; Repeated pneumothoraces

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006755.2:c.574C>T	2		Transaldolase Deficiency

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Remarks

Patient had two siblings who died after birth with unknown causes

References

Takaleh et al. 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
606003.2	United Arab Emirates	Hepatosplenomegaly; Cutis laxa; Proteinuria; Left ventricular hypertrophy; Abnormality of the coagulation cascade; Splenomegaly; Hepatic failure; Hepatocellular carcinoma; Mesangial hypercellularity; Dry skin; Hypertension; Failure to thrive	Female	Yes	Yes	Belongs to a tribe of Saudi Arabian origin. Distantly related to 606003.1.1
606003.8	United Arab Emirates	Premature birth; Small for gestational age; Bilateral cryptorchidism; Hernia; Recurrent lower respiratory tract infections; Failure to thrive; Hepatomegaly; Leukopenia; Scaling skin; Telangiectasia; Hyperpigmentation of the skin; Hypergonadotropic hypogonadism; Decreased testicular size	Male	Yes	Yes	Patient had a sister with recurrent chest infections and dilated cardiomyopathy and died from an upper gastrointestinal bleed at 13 years of age. short stature premature birth with a birth weight bilateral orchiopexy, hernia repair, recurrent chest infections failure to thrive , mild hepatomegaly and leukopeni dry, scaly skin, cutaneous telangiectasia, and hyperpigmentation. Cardiac examination revealed a soft ejection systolic murmur at the left lower sternal border leukopenia, the horm