Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
4q24
Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616721.1.1 | Lebanon | Female | Yes | Yes | Global developmental delay; Limb hypert... Global developmental delay; Limb hypertonia; Cerebral atrophy; Focal T2 hyperintense basal ganglia lesion; Peripheral axonal neuropathy; Broad forehead; Hirsutism; Anteverted nares; Thin vermilion border; Smooth philtrum  | NM_022154.5:c.338G>C | Homozygous | Autosomal, Recessive | Riley et al, 2017 | Proband |
| 616721.1.2 | Lebanon | Female | Yes | Yes | Profound global developmental delay; Ps... Profound global developmental delay; Psychomotor retardation; Seizure; Cerebral atrophy; Focal T2 hyperintense basal ganglia lesion; Scoliosis; Broad forehead | NM_022154.5:c.338G>C | Homozygous | Autosomal, Recessive | Riley et al, 2017 | Sister of 616721.1.1 |