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216550.5.4
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Subject Details
Country
Lebanon
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Sex
Female
Family History
Yes
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
NM_017890.4:c.9406-1G>T
1
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Remarks
Unaffected sister of 216550.5.1
References
Mégarbané et al. 2001;
Mégarbané et al, 2009
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
216550.5.1
Lebanon
Intellectual disability; Microcephaly; Cutis gyrata of scalp; Prominent supraorbital ridges; Rod-cone dystrophy; Cataract; Sensorineural hearing impairment; Kyphoscoliosis; Prominent nose; Hypertelorism
Male
Yes
No
216550.5.2
Lebanon
Intellectual disability; Microcephaly; Cutis gyrata of scalp; Prominent supraorbital ridges; Rod-cone dystrophy; Cataract; Sensorineural hearing impairment; Kyphoscoliosis; Prominent nose; Hypertelorism
Male
Yes
No
Brother of 216550.5.1
216550.5.3
Lebanon
Female
Yes
No
Unaffected mother of 216550.5.1
Back to search Result
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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