614876.1.1

Country

United Arab Emirates

HPO Terms

Spastic diplegia; Tip-toe gait; Syringomyelia; Horizontal nystagmus; Head tremor; Hand tremor; Dysmetria; Lower limb hypertonia; Brisk reflexes; Babinski sign; Ankle clonus; Abnormality of coordination; Flexion contracture; Hip dislocation; Dysarthria; Dysphagia; Scoliosis

Back to search Result

Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004813.4:c.859C>T	2		Peroxisome Biogenesis Disorder 8A (Zellweger)
NM_000033.4:c.394T>C	1

Download Table

Remarks

Proband (Patient 'III-6' in the publication)

References

Zaabi et al. 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614876.1.2	United Arab Emirates	Aplasia of the phalanges of the toes; Deviation of the thumb; Motor regression	Female	Yes	Yes	Sister of 614876.1.1 (Patient 'III-9' in the publication)
614876.1.3	United Arab Emirates	Motor regression	Female	Yes	No	Paternal cousin of 614876.1.1 (Patient 'III-1' in the publication)