600502.1.1

Country

Lebanon

HPO Terms

Foot dorsiflexor weakness; EMG: chronic denervation signs; Spinal muscular atrophy; Axial hypotonia; Hyperlordosis; Kyphoscoliosis; Reduced vital capacity; Diaphragmatic paralysis; Generalized muscle weakness

Back to search Result

Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002180.2:c.2316C>T	2
NM_002180.2:c.2011A>G	2

Download Table

Remarks

Patient exhibits distal spinal muscular atrophy unrelated to IGHMBP2 polymorphisms. Further details in the CTGA record for OMIM: 607088.

References

Viollet et al. 2002