Unknown
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001918.4:c.1430T>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 248600.1.1 | Lebanon | Psychomotor retardation; Feeding difficulties; Severe | Unknown | No | Yes | |
| 248600.1.2 | Lebanon | Psychomotor retardation; Feeding difficulties; Severe | Unknown | No | Yes | |
| 248600.1.4 | Lebanon | Psychomotor retardation; Feeding difficulties | Unknown | No | Yes |