615284.1

Country

Lebanon; Syria

HPO Terms

Microcephaly; Unsteady gait; Global developmental delay; Abnormal facial shape; Joint laxity; Dysarthria; Decreased compound muscle action potential amplitude; Decreased sensory nerve conduction velocity

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002972.3:c.1004T>C	2		Charcot-Marie-Tooth Disease, Type 4B3

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Remarks

Has a similarly affected male sibling. Both showed fork and bracket sign on brain MRI

References

Romani et al. 2016;
Mégarbané et al. 2010

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615284.2	Lebanon; Syria	Microcephaly; Intellectual disability, moderate; Delayed speech and language development; Unilateral ptosis; Strabismus; Abnormal facial shape; Global developmental delay; Unsteady gait; Failure to thrive	Female	No	Yes