615284.2

Country

Saudi Arabia

HPO Terms

Microcephaly; Intellectual disability, moderate; Delayed speech and language development; Unilateral ptosis; Strabismus; Abnormal facial shape; Global developmental delay; Unsteady gait; Failure to thrive

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002972.4:c.2570-1G>T	2		Charcot-Marie-Tooth Disease, Type 4B3

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References

Shaheen et al. 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615284.1	Saudi Arabia	Microcephaly; Unsteady gait; Global developmental delay; Abnormal facial shape; Joint laxity; Dysarthria; Decreased compound muscle action potential amplitude; Decreased sensory nerve conduction velocity	Female	Yes	Yes	Has a similarly affected male sibling. Both showed fork and bracket sign on brain MRI