Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_153816.6:c.1132C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616354.2.1 | United Arab Emirates | Intellectual disability; Motor delay; Absent speech; Delayed social development; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Sensorineural hearing impairment; Macroglossia; Atrial septal defect | Female | Yes | Yes | |
616354.2.3 | United Arab Emirates | Intellectual disability; Motor delay; Absent speech; Delayed social development; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Sensorineural hearing impairment; Macroglossia | Male | Yes | Yes | Brother of 616354.2.1 |