Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002860.4:c.2246G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219150.1.1 | Lebanon | Generalized hypotonia ; Redundant skin ; Cataract ; Hyperreflexia ; Decreased muscle mass ; Congenital aphakia ; Hypoplasia of the corpus callosum ; Widened subarachnoid space ; Bilateral coxa valga ; Absent speech ; Severe global developmental delay ; Flexion contracture ; Sloping forehead ; Flat occiput ; Deeply set eye | Male | Yes | No | Proband |
| 219150.1.2 | Lebanon | Generalized hypotonia ; Hyperreflexia ; Decreased muscle mass ; Congenital aphakia ; Hypoplasia of the corpus callosum ; Widened subarachnoid space ; Bilateral coxa valga ; Absent speech ; Severe global developmental delay ; Flexion contracture ; Sloping forehead ; Flat occiput ; Deeply set eye | Male | Yes | No | Brother of 219150.1.1 |
| 219150.1.4 | Lebanon | Female | Yes | No | Unaffected mother of 219150.1.1 |