Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the respiratory system
Autosomal recessive
17q25.3
Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613808.1 | United Arab Emirates | Heterotaxy Heterotaxy  | NM_017950.4:c.257A>G, NM_017950.4:c.1445G>A | Compound heterozygous | Autosomal, Recessive | Alsamri et al. 2021 | 'Patient 6' in the p... | |||
| 613808.2 | United Arab Emirates | Recurrent sinusitis Recurrent sinusitis | NM_017950.4:c.850G>C, NM_017950.4:c.697G>A | Compound heterozygous | Autosomal, Recessive | Alsamri et al. 2021 | 'Patient 7' in the p... | |||
| 613808.G.1 | United Arab Emirates | Recurrent sinopulmonary infections Recurrent sinopulmonary infections | NM_017950.4:c.62G>T | Homozygous | Autosomal, Recessive | Alsamri et al. 2021 | Two siblings |