608013.1.2

Lebanon

Congenital nonbullous ichthyosiform erythroderma; Multiple joint contractures; Hepatosplenomegaly; Congenital thrombocytopenia; Neonatal death; ;

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Male

Yes

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

Sibling of 608013.1.1

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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