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273750.4.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Joint laxity; Neonatal respiratory distress; Severe short stature; Relative macrocephaly; Abnormal facial shape; Hyperlordosis; Large iliac wing
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
NM_014780.5:c.2863-1G>C
2
NA
Three M Syndrome 1
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References
Al-Dosari et al. 2012;
Maddirevula et al. 2018
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
273750.4.2
Saudi Arabia
Joint laxity; Abnormal facial shape; Severe short stature; Relative macrocephaly; Hyperlordosis
Female
Yes
Yes
Sibling of 273750.4.1
273750.4.3
Saudi Arabia
Abnormal facial shape; Severe postnatal growth retardation; Short stature; Hyperlordosis; Abnormal form of the vertebral bodies
Female
Yes
Yes
Cousin of 273750.4.1
273750.4.4
Saudi Arabia
Abnormal facial shape; Severe postnatal growth retardation; Short stature; Hyperlordosis; Abnormal form of the vertebral bodies
Female
Yes
Yes
Sibling of 273750.4.3
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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