This is an extremely rare condition, caused by loss of function of the GOLGA2 gene.
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
9q34.11
This is an extremely rare condition, caused by loss of function of the GOLGA2 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 602580.1 | Saudi Arabia | Female | Yes | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability; Muscle weakness; Delayed speech and language development; Multiple joint contractures; Motor stereotypy; Elevated circulating creatine kinase concentration; Brain atrophy; Cerebral hypomyelination; Microcephaly  | NM_001366244.2:c.1675_1676insACCG | Homozygous | Autosomal, Recessive | Maddirevula et al. 2019 |