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255320.2
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Hypotonia; Muscle weakness; Easy fatigability; Exercise intolerance; Autophagic vacuoles
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Sex
Male
Subject Variants
Variant Name
Allele Count
Associated Disease
NM_000540.3:c.14209C>T
2
Congenital Myopathy 1B, Autosomal Recessive
Download Table
References
Monies et al. 2017
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
255320.1
Saudi Arabia
Ptosis; Aplasia/Hypoplasia of the sacrum
Unknown
Yes
Yes
No motor delay
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العربية
About Us
News
Fellowships
العربية
Home
About Us
CTGA Database
CTGA Overview
Search Database
Submit to Database
Publications
Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
Reports
Conferences & Events
News
Gallery
Fellowships
Contact Us