Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153816.6:c.645dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616354.5 | Egypt | Intellectual disability; Motor delay; Delayed speech and language development; Delayed social development; Seizure; Hypotonia; Nystagmus; Inability to walk; Cerebellar atrophy; Coarse facial features; Joint stiffness; Scoliosis; Pectus carinatum; Hepatosplenomegaly; Hernia | Male | No | Yes | |
| 616354.6 | Egypt | Intellectual disability; Motor delay; Absent speech; Delayed social development; Seizure; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Joint stiffness; Kyphoscoliosis; Sensorineural hearing impairment; Macroglossia; Hypertrichosis; Skeletal muscle atrophy | Female | No | Yes | |
| 616354.7 | Egypt | Intellectual disability; Autistic behavior; Delayed gross motor development; Poor fine motor coordination; Absent speech; Delayed gross motor development; Hypotonia; Dysdiadochokinesis; Cerebellar atrophy; Retrocerebellar cyst; Coarse facial features; Optic atrophy; Sensorineural hearing impairment ; Clinodactyly; Hepatosplenomegaly; Ureteral duplication; Hydronephrosis | Yes | Yes | The patient had 3 affected siblings, 2 of whom were deceased | |
| 616354.10 | Egypt | Intellectual disability; Autistic behavior; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Nystagmus; Coarse facial features; Hypertrichosis; Macroglossia | Female | No | Yes | |
| 616354.11 | Egypt | Intellectual disability; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Hepatosplenomegaly; Inability to walk; Coarse facial features | No | Yes |