Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000267.3:c.574C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 162200.11 | United Arab Emirates | Neurofibromas | Unknown | |||
| 162200.13 | United Arab Emirates | Specific learning disability; Multiple cafe-au-lait spots | Female | No | No | de novo mutation |
| 162200.15 | United Arab Emirates | Specific learning disability; Attention deficit hyperactivity disorder | Male | Yes | No | Affected father and siblings |
| 162200.17 | United Arab Emirates | Seizure; Global developmental delay; Hyperpigmentation of the skin | Male | No | No | de novo mutation |
| 162200.18 | United Arab Emirates | Multiple cafe-au-lait spots; Myopia; Specific learning disability | Female | No | No | Affected father |
| 162200.19 | United Arab Emirates | Multiple cafe-au-lait spots; Axillary freckling | Male | Yes | Yes | De novo mutation |
| 162200.21 | United Arab Emirates | Multiple cafe-au-lait spots; Axillary freckling; Relative Macrocephaly; Failure to thrive | Female | De novo mutation; Patient's parents are from the same tribe. | ||
| 162200.22 | United Arab Emirates | Multiple cafe-au-lait spots; Axillary freckling; Macrocephaly | Male | Yes | De novo mutation | |
| 162200.24 | United Arab Emirates | Global developmental delay; Multiple cafe-au-lait spots; Axillary freckling; Optic nerve glioma | Male | No | De novo mutation |