222748.1.1

Country

Lebanon

HPO Terms

Abnormal circulating nucleobase concentration; Intellectual disability, severe; Abnormal facial shape; Epileptic spasm; Delayed myelination; Cerebral cortical atrophy;

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001385.2:c.1078T>C	2		Dihydropyrimidinase Deficiency

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References

Hamajima et al., 1998;
van Gennip et al., 1997

Related Subjects

Subject Id	Country	Sex	Remarks
222748.1.2	Lebanon	Female	Mother of 222748.1.1
222748.1.3	Lebanon	Male	Father of 222748.1.1
222748.1.4	Lebanon	Male	Maternal grandfather of 222748.1.1

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Country

HPO Terms

Sex

Parental Consanguinity

Subject Variants

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References

Related Subjects

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.