Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
5q31.3
Seizures, cortical blindness, and microcephaly syndrome (SCBMS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. Affected individuals also tend to show poor overall growth with short stature. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616632.1.1 | Saudi Arabia | Female | Yes | Yes | Seizure; Microcephaly; Intellectual disa... Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairment  | NM_005219.5:c.2332C>T | Homozygous | Autosomal, Recessive | Ercan-Sencicek et al. 2015 | Patient had a siblin... |
| 616632.1.2 | Saudi Arabia | Female | Yes | Yes | Death in adolescence; Seizure; Microceph... Death in adolescence; Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairment | NM_005219.5:c.2332C>T | Homozygous | Autosomal, Recessive | Alazami et al. 2015; Ercan-Sencicek et al. 2015 | Sibling of 616632.1.... |
| 616632.1.3 | Saudi Arabia | Female | Yes | Yes | Death in adolescence; Seizure; Microceph... Death in adolescence; Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairment | NM_005219.5:c.2332C>T | Homozygous | Autosomal, Recessive | Ercan-Sencicek et al. 2015 | Sibling of 616632.1.... |
| 616632.1.4 | Saudi Arabia | Male | Yes | Yes | Seizure; Microcephaly; Intellectual disa... Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairment | NM_005219.5:c.2332C>T | Homozygous | Autosomal, Recessive | Ercan-Sencicek et al. 2015 | Sibling of 616632.1.... |
| 616632.1.5 | Saudi Arabia | Male | Yes | Yes | Seizure; Microcephaly; Intellectual disa... Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairment | NM_005219.5:c.2332C>T | Homozygous | Autosomal, Recessive | Ercan-Sencicek et al. 2015 | Sibling of 616632.1.... |
| 616632.2 | United Arab Emirates | No | Yes | Seizure; Microcephaly; Trigonocephaly; V... Seizure; Microcephaly; Trigonocephaly; Visual impairment; Hypotonia; Global developmental delay; Cerebral cortical atrophy | NM_005219.5:c.3145C>T | Homozygous | Autosomal, Recessive | Al-Maawali et al. 2016 | ||
| 616632.3.1 | Oman | Female | Yes | Yes | Death in adolescence; Seizure; Microceph... Death in adolescence; Seizure; Microcephaly; Visual impairment; Optic atrophy; Intellectual disability; Bronchiectasis | NM_005219.5:c.2769del | Homozygous | Autosomal, Recessive | Al-Maawali et al. 2016 | Patient had an older... |
| 616632.3.2 | Oman | Female | Yes | Yes | Death in adolescence; Seizure; Microceph... Death in adolescence; Seizure; Microcephaly; Visual impairment; Optic atrophy; Intellectual disability | NM_005219.5:c.2769del | Homozygous | Autosomal, Recessive | Al-Maawali et al. 2016 | Sibling of 616632.3.... |
| 616632.3.3 | Oman | Male | Yes | Yes | Seizure; Microcephaly; Visual impairment... Seizure; Microcephaly; Visual impairment; Optic atrophy | NM_005219.5:c.2769del | Homozygous | Autosomal, Recessive | Al-Maawali et al. 2016 | Sibling of 616632.3.... |