Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000302.4:c.955C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
225400.2.1 | United Arab Emirates | Generalized hypotonia; Kyphosis; Joint laxity; Wrist drop; Delayed gross motor development | Female | Yes | Yes | Twin sister died of kidney problems in neonatal period |