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216400.7
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Subject Details
Country
Lebanon
HPO Terms
Hypotonia ; Short stature ; Microcephaly ; Deeply set eye ; Carious teeth ; Sensorineural hearing impairment ; Cutaneous photosensitivity ; Localized skin lesion ; Death in adolescence
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Sex
Male
Family History
Yes
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000082.3:c.966C>A
2
Cockayne Syndrome, Type A
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Remarks
The patient had two other affected siblings who were not presented for clinical evaluation.
References
Chebly et al, 2018
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