Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
X-linked dominant
Xq13.1
Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 300882.1 | Lebanon | Female | Microcephaly; Delayed speech and langu... Microcephaly; Delayed speech and language development; Global developmental delay; Absent speech; Dysphagia  | NM_018486.3:c.562G>A | Heterozygous | X-linked, Dominant | Nair et al. 2018 | |||
| 300882.2 | Lebanon | Male | Microcephaly; Low-set ears; Short neck... Microcephaly; Low-set ears; Short neck; Downslanted palpebral fissures; Single transverse palmar crease; Intellectual disability; Hypotonia; Motor delay; Failure to thrive; Intrauterine growth retardation; Flexion contracture of finger | NM_018486.3:c.958G>A | Hemizygous | X-linked, Dominant | Nair et al. 2018 | Parents from same vi... |