Male
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_153704.6:c.2306del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
607361.10.1 | Saudi Arabia | Renal cyst; Occipital encephalocele; Pulmonary hypoplasia; Oligohydramnios; Microcephaly | No | Yes | ||
607361.10.3 | Saudi Arabia | Female | No | Mother of patient 607361.10.1 |