Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
17q25.3
NEDSBAS is a rare autosomal recessive neurodevelopmental disorder that has only been identified in a handful of families. Affected individuals suffer from profound intellectual disability, delayed psychomotor development, spastic quadriplegia and brain abnormalities, among other symptoms.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617977.1.1 | United Arab Emirates | Female | Yes | Yes | Global developmental delay; Spastic tetr... Global developmental delay; Spastic tetraplegia; Seizure; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum  | NM_019613.4:c.799C>T | Homozygous | Autosomal, Recessive | Suleiman et al. 2017 | |
| 617977.1.2 | United Arab Emirates | Male | Yes | Yes | Global developmental delay; Spastic tetr... Global developmental delay; Spastic tetraplegia; Seizure; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum | NM_019613.4:c.799C>T | Homozygous | Autosomal, Recessive | Suleiman et al. 2017 | Sibling of 617977.1.... |
| 617977.1.3 | United Arab Emirates | Female | Yes | Yes | Global developmental delay; Spastic tetr... Global developmental delay; Spastic tetraplegia; Seizure; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum | NM_019613.4:c.799C>T | Homozygous | Autosomal, Recessive | Suleiman et al. 2017 | Sibling of 617977.1.... |
| 617977.2.1 | Saudi Arabia; Syria | Male | Yes | Yes | Global developmental delay; Spastic tetr... Global developmental delay; Spastic tetraplegia; Seizure; Microcephaly | NM_019613.4:c.673C>T | Homozygous | Autosomal, Recessive | Suleiman et al. 2017 | Patient was from a S... |
| 617977.2.2 | Saudi Arabia; Syria | Female | Yes | Yes | Global developmental delay; Spastic tetr... Global developmental delay; Spastic tetraplegia; Seizure; Microcephaly; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum | NM_019613.4:c.673C>T | Homozygous | Autosomal, Recessive | Suleiman et al. 2017 | Sibling of 617977.2.... |
| 617977.3.1 | Saudi Arabia; Syria | Female | Yes | Yes | Global developmental delay; Spastic tetr... Global developmental delay; Spastic tetraplegia; Microcephaly; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum | NM_019613.4:c.673C>T | Homozygous | Autosomal, Recessive | Suleiman et al. 2017 | Patient was from a S... |