Unknown
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001077365.2:c.2113_2114del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
236670.2 | Saudi Arabia | Hydrocephalus; Seizure; Global developmental delay; Microphthalmia; Retinal detachment; Type II lissencephaly; Highly elevated creatine kinase | Female | Yes | Yes | Patient had a similarly affected deceased younger sister. Patient is identified as 08DG00271 in the publication. |
236670.4 | Saudi Arabia | Ventriculomegaly; Agenesis of cerebellar vermis; Abnormal brainstem morphology; Dysplastic corpus callosum; Lissencephaly; Developmental cataract | Unknown | Yes | Yes | Patient had a deceased older brother with anencephaly and a deceased cousin with Potter syndrome |