Diseases of the nervous system
Other disorders of the nervous system
11q25
HDBSCC is an autosomal recessive disorder with a distinctive phenotype comprising hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613730.1.1 | United Arab Emirates | Male | Yes | Yes | Cerebral hemorrhage; Developmental catar... Cerebral hemorrhage; Developmental cataract; Patent ductus arteriosus; Ventricular septal defect; Hepatomegaly; Neonatal death  | NM_032801.4:c.612+1G>T | Homozygous | Autosomal, Recessive | Mochida et al. 2010 | Patient belongs to a... |
| 613730.1.2 | United Arab Emirates | Female | Yes | Yes | Cerebral hemorrhage; Developmental catar... Cerebral hemorrhage; Developmental cataract; Cystic renal dysplasia; Hepatomegaly; Neonatal death | NM_032801.4:c.612+1G>T | Homozygous | Autosomal, Recessive | Mochida et al. 2010 | Sister of 613730.1.1... |
| 613730.1.3 | United Arab Emirates | Male | Yes | Yes | Cerebral hemorrhage; Seizure; Developmen... Cerebral hemorrhage; Seizure; Developmental cataract; Microphthalmia; Micropenis; Cryptorchidism | NM_032801.4:c.612+1G>T | Homozygous | Autosomal, Recessive | Mochida et al. 2010 | Brother of 613730.1.... |
| 613730.1.4 | United Arab Emirates | Female | Yes | Yes | Cerebral hemorrhage; Seizure; Developmen... Cerebral hemorrhage; Seizure; Developmental cataract; Systolic heart murmur; Hepatomegaly; Thrombocytopenia | NM_032801.4:c.612+1G>T | Homozygous | Autosomal, Recessive | Mochida et al. 2010 | Relative of 613730.1... |
| 613730.1.5 | United Arab Emirates | Male | Yes | Yes | Cerebral hemorrhage; Developmental catar... Cerebral hemorrhage; Developmental cataract; Optic disc pallor; Ectopic kidney; Death in infancy | NM_032801.4:c.612+1G>T | Homozygous | Autosomal, Recessive | Mochida et al. 2010 | Relative of 613730.1... |
| 613730.1.6 | United Arab Emirates | Female | Yes | Yes | Cerebral hemorrhage; Seizure; Developmen... Cerebral hemorrhage; Seizure; Developmental cataract; Ectopic kidney | NM_032801.4:c.612+1G>T | Homozygous | Autosomal, Recessive | Mochida et al. 2010 | Relative of 613730.1... |
| 613730.2.1 | Morocco | Female | Yes | Yes | Developmental cataract; Irritability; In... Developmental cataract; Irritability; Intraventricular hemorrhage; Ventriculomegaly; Periventricular cysts; Anemia; Death in infancy | NM_032801.5:c.2T>G | Homozygous | Autosomal, Recessive | Akawi et al. 2013 | Family history inclu... |
| 613730.3 | United Arab Emirates | Unknown | | NM_032801.4:c.612+1G>T | Homozygous | Autosomal, Recessive | Bertoli-Avella et al. 2021 |