Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001163435.3:c.1363A>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616900.2.1 | Lebanon | Profound global developmental delay; Developmental regression; Areflexia; Severe muscular hypotonia; Focal-onset seizure; Cerebral visual impairment; Respiratory insufficiency; Nasogastric tube feeding; Turricephaly; Osteoporosis | Female | Yes | Yes | Proband also had 2 brothers with a hematological disorder |