Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_203314.3:c.668G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
603063.1.1 | Syria | Intellectual disability, severe; Seizure; Hypotonia; Limb hypertonia; Spasticity; Short stature; Microcephaly; Leukodystrophy | Male | Yes | Yes | Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders. |