Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001042492.3:c.2998_2999del | 1 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
162200.20.1 | Saudi Arabia | Multiple cafe-au-lait spots; Axillary freckling; Global developmental delay; Global brain atrophy | Male | Yes | Patient's parents are from the same village. |