Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_145064.3:c.851G>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
255995.2.2 | Qatar | Delayed gross motor development; Kyphoscoliosis; Hypotonia; Ptosis; Myopathic facies | Female | Yes | Yes | Older sibling of 255995.2.1 |