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615071.3.2
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Subject Details
Country
Algeria
HPO Terms
Intellectual disability, severe; Severe postnatal growth retardation; Mild microcephaly; Anxiety; Autistic behavior; Lower limb spasticity; Hyperactive deep tendon reflexes; Abnormal facial shape; Cutis marmorata
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Associated Disease
NM_016648.4:c.503_504dup
2
Alazami Syndrome
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Remarks
Sibling of 615071.3.1
References
Imbert-Bouteille et al. 2019
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
615071.3.1
Algeria
Intellectual disability, severe; Severe postnatal growth retardation; Mild microcephaly; Anxiety; Autistic behavior; Lower limb spasticity; Hyperactive deep tendon reflexes; Abnormal facial shape; Cutis marmorata; Bilateral tonic-clonic seizure
Female
Yes
Yes
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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