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 |
---|---|---|---|---|---|---|
225400.4.1 | United Arab Emirates | Generalized hypotonia; Dolichocephaly; Spindle-shaped finger; Laryngomalacia; Kyphosis; Joint laxity; Wrist drop; Acetabular dysplasia; Delayed gross motor development; Abnormal myelination | Male | Yes | Yes |