Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001172435.2:c.2011C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
600118.1.1 | Lebanon | Bilateral microphthalmos; Cataract; Cerebral atrophy; Generalized hypotonia; Spastic diplegia; Kyphoscoliosis ; Intellectual disability, severe | Female | Yes | Yes | |
600118.1.2 | Lebanon | Bilateral microphthalmos; Cataract; Cerebral atrophy; Generalized hypotonia; Spastic diplegia; Kyphoscoliosis ; Intellectual disability, severe | Female | Yes | Yes | Cousin of 600118.1.1 |
600118.1.4 | Lebanon | Bilateral microphthalmos; Cataract; Cerebral atrophy; Generalized hypotonia; Spastic diplegia; Kyphoscoliosis ; Intellectual disability, severe | Male | Yes | Yes | Cousin of 600118.1.1 |