614457.2

Country

Saudi Arabia

HPO Terms

Motor delay; Delayed speech and language development; Microcephaly; Spasticity; Seizure; Ichthyosis; Failure to thrive; Joint contracture; Optic atrophy; Global developmental delay; Sparse hair

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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_022726.4:c.575A>G	2		Ichthyosis, Spastic Quadriplegia, and Mental Retardation

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References

Monies et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614457.1	Saudi Arabia	Motor delay; Delayed speech and language development; Microcephaly; Spasticity; Seizure; Ichthyosis; Failure to thrive; Joint contracture; Optic atrophy	Male	Yes	Yes