Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_030630.3:c.2318dup | 1 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
619983.1.1 | Saudi Arabia | Failure to thrive; Growth delay; Short stature; Intellectual disability; Absent speech; Seizure; Hypotonia; Panhypopituitarism; Agenesis of corpus callosum; Small pituitary gland; Synophrys; Hypertelorism; Long eyelashes; Death in childhood | Male | Yes | Yes | Patient from 'family 3' in Schänzer et al. 2021 |
619983.1.3 | Saudi Arabia | Female | Mother of 619983.1.1 |