Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_153816.6:c.1182del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616354.4.1 | Egypt | Intellectual disability; Motor delay; Absent speech; Autistic behavior; Delayed social development; Hypotonia; Nystagmus; Inability to walk; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Joint stiffness; Kyphoscoliosis; Hypertrichosis; Skeletal muscle atrophy | Male | Yes | Yes | |
616354.4.2 | Egypt | Intellectual disability; Motor delay; Absent speech; Autistic behavior; No social interaction; Seizure; Hypotonia; Nystagmus; Inability to walk; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Joint stiffness; Kyphoscoliosis; Hypertrichosis; Skeletal muscle atrophy | Female | Yes | Yes | Sister of 616354.4.1 |