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608013.1.2
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Subject Details
Country
Lebanon
HPO Terms
Congenital nonbullous ichthyosiform erythroderma; Multiple joint contractures; Hepatosplenomegaly; Congenital thrombocytopenia; Neonatal death; ;
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Sex
Male
Family History
Yes
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000157.3:c.475C>T
1
Gaucher Disease, Perinatal Lethal
NM_000157.3:c.703T>C
1
Gaucher Disease, Perinatal Lethal
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Remarks
Sibling of 608013.1.1
References
Lui et al, 1998;
Stone et al, 2000
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
608013.1.1
Lebanon
Congenital nonbullous ichthyosiform erythroderma; Hepatosplenomegaly; Congenital thrombocytopenia; Neonatal death;
Male
Yes
No
608013.1.3
Lebanon
Neonatal death
Female
Yes
Yes
First cousin of 608013.1.1 and 608013.1.2
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