Unknown
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000350.3:c.4852T>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
248200.11 | Saudi Arabia | Alternating esotropia; Myopia; Macular scar; Global developmental delay; Generalized hypotonia; Feeding difficulties; Recurrent lower respiratory tract infections; Abnormal facial shape; Leukodystrophy | Female | No | Yes | |
248200.12 | Saudi Arabia | Retinal dystrophy | Unknown | No |