Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001042492.3:c.3129del | 1 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
162200.11 | Saudi Arabia | Neurofibromas | Unknown | |||
162200.13 | Saudi Arabia | Specific learning disability; Multiple cafe-au-lait spots | Female | No | No | de novo mutation |
162200.15 | Saudi Arabia | Specific learning disability; Attention deficit hyperactivity disorder | Male | Yes | No | Affected father and siblings |
162200.16 | Saudi Arabia | Specific learning disability; Diminished ability to concentrate; Intellectual disability | Male | No | Yes | de novo mutation |
162200.17 | Saudi Arabia | Seizure; Global developmental delay; Hyperpigmentation of the skin | Male | No | No | de novo mutation |
162200.18 | Saudi Arabia | Multiple cafe-au-lait spots; Myopia; Specific learning disability | Female | No | No | Affected father |
162200.19 | Saudi Arabia | Multiple cafe-au-lait spots; Axillary freckling | Male | Yes | Yes | De novo mutation |
162200.21 | Saudi Arabia | Multiple cafe-au-lait spots; Axillary freckling; Relative Macrocephaly; Failure to thrive | Female | De novo mutation; Patient's parents are from the same tribe. | ||
162200.24 | Saudi Arabia | Global developmental delay; Multiple cafe-au-lait spots; Axillary freckling; Optic nerve glioma | Male | No | De novo mutation |