170100.2

Country

Lebanon

HPO Terms

Skin ulcer; Microcytic anemia; Hypochromic anemia; Thrombocytopenia; Arterial stenosis; Hepatosplenomegaly; Vertebral fusion; Abnormal facial shape; Intellectual disability, mild

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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_000285.4:c.549-1G>A	2		Prolidase Deficiency

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Remarks

Sibling of 170100.1

References

Hajjar et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
170100.1	Lebanon	Skin ulcer; Microcytic anemia; Hypochromic anemia; Thrombocytopenia; Arterial stenosis; Hepatosplenomegaly; Vertebral fusion; Abnormal facial shape; Intellectual disability, mild	Male	Yes	Yes