Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001271440.1:c.640-23A>T | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
602271.1.1 | Saudi Arabia | Short stature; Hypermetropia; Strabismus; Rhizomelia; Micrognathia; Generalized joint laxity | Male | Yes | Yes | |
602271.1.2 | Saudi Arabia | Short stature; Hypermetropia; Strabismus; Rhizomelia; Micrognathia; Generalized joint laxity | Male | Yes | Yes | Relative of 602271.1.1 |