613744.2.2

Country

Syria

HPO Terms

Intellectual disability, severe; Neonatal hypotonia; Hypertonia; Spasticity; Abnormal foot morphology; Joint contracture; Absent speech; Microcephaly; Short stature; Coarse facial features; Bulbous nose

Back to search Result

Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_007347.5:c.542+5_542+8del	2		Spastic Paraplegia 51, Autosomal Recessive

Download Table

Remarks

Double first cousin of 613744.2.1

References

Abou Jamra et al. 2011

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613744.2.1	Syria	Intellectual disability, severe; Neonatal hypotonia; Hypertonia; Spasticity; Abnormal foot morphology; Joint contracture; Absent speech; Microcephaly; Short stature; Coarse facial features; Bulbous nose	Male	Yes	Yes	Index patient