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611816.1
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Subject Details
Country
Lebanon
HPO Terms
Generalized hypotonia; Global developmental delay; Absent distal phalanges; Absent nail of hallux; Abnormal facial shape
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_172362.3:c.1123G>A
1
Temple-Baraitser Syndrome
NM_015690.5:c.2131T>C
1
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Remarks
Authors consider Temple-Baraitser Syndrome and Zimmerman-Laband Syndrome to be a continuous phenotype
References
Mégarbané et al, 2016
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