Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
20q13.13
Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 608097.1.1 | Egypt | Male | Yes | Yes | Severe global developmental delay; Autis... Severe global developmental delay; Autistic behavior; Microcephaly; Abnormal facial shape; Strabismus; Hypotonia; Seizure; Dilation of lateral ventricles; Partial agenesis of the corpus callosum; Abnormal cerebral white matter morphology  | NM_006420.3:c.2776C>T | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | |
| 608097.1.2 | Egypt | Male | Yes | Yes | Severe global developmental delay; Autis... Severe global developmental delay; Autistic behavior; Microcephaly; Abnormal facial shape; Strabismus; Hypotonia; Seizure; Dilation of lateral ventricles; Partial agenesis of the corpus callosum; Abnormal cerebral white matter morphology | NM_006420.3:c.2776C>T | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | Second-cousin of 608... |
| 608097.2 | Saudi Arabia | Global developmental delay; Seizure; Hyd... Global developmental delay; Seizure; Hydrocephalus; Aqueductal stenosis | NM_006420.3:c.656dup | Homozygous | Autosomal, Recessive | Alazami et al. 2015 |