615284.3.3

Country

Saudi Arabia

HPO Terms

Syndactyly; Upper limb muscle weakness; Lower limb muscle weakness; Cognitive impairment; Weakness of facial musculature; Areflexia; Exotropia; Ophthalmoparesis; Strabismus; Urinary incontinence; Microcephaly; Brain atrophy; Polyneuropathy

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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_002972.4:c.1327G>A	2		Charcot-Marie-Tooth Disease, Type 4B3

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Remarks

Brother of 615284.3.1

References

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615284.3.1	Saudi Arabia	Syndactyly; Strabismus; Upper limb muscle weakness; Lower limb muscle weakness; Cognitive impairment; Ophthalmoparesis; Weakness of facial musculature; Dysarthria; Areflexia; Brain atrophy; Abnormal myelination; Microcephaly; Short stature	Male	Yes	Yes
615284.3.2	Saudi Arabia	Syndactyly; Upper limb muscle weakness; Lower limb muscle weakness; Cognitive impairment; Weakness of facial musculature; Areflexia; Exotropia; Ophthalmoparesis; Polyneuropathy; Dysphagia; Microcephaly; Short stature; Strabismus	Male	Yes	Yes	Brother of 615284.3.1