618578.2.1

Saudi Arabia

Scoliosis; Axial hypotonia; Triangular face; Ptosis; Generalized hypotonia; Waddling gait; Distal muscle weakness

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Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001135254.2:c.166C>T	2	NA	Myopathy, Congenital, Progressive, with Scoliosis

'Individual 4' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
618578.2.2	Saudi Arabia	Scoliosis; Axial hypotonia; Triangular face; Ptosis; Generalized hypotonia; Distal muscle weakness; Gait disturbance	Female	Yes	Yes	Sister of 618578.2.1

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