Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000138.4:c.5117G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
231050.2 | Algeria | Short stature | de novo mutation | |||
231050.4 | Algeria | Short stature; Hepatomegaly | de novo mutation | |||
231050.6 | Algeria | Short stature; Bilateral ptosis; Deep palmar crease; Low-set ears; Hypertelorism; Hemangioma; Systolic heart murmur | Female | Yes |