Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
10q11.23
Cockayne syndrome is a rare multisystem disorder resulting in developmental and neurological delays and progressive neurological dysfunction. Patients often exhibit microcephaly, photosensitivity, premature aging and sensorineural hearing loss. The subtype of Cockayne syndrome B has a more severe prognosis, with patients succumbing to the disorder in the first decade of life.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 133540.1.1 | Lebanon | Female | Yes | Short stature ; Cutaneous photosensiti... Short stature ; Cutaneous photosensitivity ; Localized skin lesion ; Low-set ears ; Microcephaly ; Deeply set eye ; Dry skin  | NM_000124.4:c.2008C>T | Homozygous | Autosomal, Recessive | Chebly et al, 2018 | ||
| 133540.2 | Saudi Arabia | Female | Microcephaly; Global developmental delay... Microcephaly; Global developmental delay; Failure to thrive; Cataract | NM_000124.4:c.2047C>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 | |||
| 133540.3 | Saudi Arabia | Male | No | Yes | Microcephaly; Global developmental delay... Microcephaly; Global developmental delay; Failure to thrive; Cataract | NM_000124.4:c.2569C>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 |