Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001975.3:c.710C>T | 2 | |||
NM_014865.4:c.23T>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617983.1.1 | Iraq | Intellectual disability, mild; Small for gestational age; Short stature; Microcephaly | Male | Yes | Yes | Authors classified these gene variants as "confident" novel candidates for neurodevelopmental disorders |