613744.2.1

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

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Sex

Male

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

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Remarks

Index patient

References

Abou Jamra et al. 2011

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613744.2.2	Syria	Intellectual disability, severe; Neonatal hypotonia; Hypertonia; Spasticity; Abnormal foot morphology; Joint contracture; Absent speech; Microcephaly; Short stature; Coarse facial features; Bulbous nose	Female	Yes	Yes	Double first cousin of 613744.2.1