615948.2.2

Country

Palestine

HPO Terms

Short long bone; Polydactyly; Renal cyst; Dandy-Walker malformation; Abnormal facial shape; Atrial septal defect; Micropenis; Holoprosencephaly; Agenesis of cerebellar vermis; Cerebellar hypoplasia; Polymicrogyria; Hydrocephalus

Back to search Result

Sex

Male

Family History

Yes

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001286577.1:c.1429del	1		Orofaciodigital Syndrome XIV
NM_001286577.1:c.195G>C	1		Orofaciodigital Syndrome XIV

Download Table

Remarks

Brother of 615948.2.1. 15 weeks old fetus

References

Cortés et al, 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615948.2.1	Palestine	Short long bone; Polydactyly; Renal cyst; Dandy-Walker malformation; Microphthalmia; Hypertelorism; Wide nasal bridge; Abnormality of the outer ear; Micrognathia; High palate; Brachydactyly	Female	Yes	No	20 weeks old fetus
615948.2.3	Palestine		Male	Yes		Father of 615948.2.1
615948.2.4	Palestine		Female	Yes		Mother of 615948.2.1