216400.7

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

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