Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006623.3:c.1286G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601815.2 | United Arab Emirates | Intrauterine growth retardation; Microcephaly; Generalized ichthyosis; Feeding difficulties in infancy; Spasticity; short stature; Failure to thrivE; Abnormal facial shape; Brain atrophy; Cerebral hypomyelination; Decreased CSF serine concentration; Abnormal CSF glycine concentration | Male | No | No | Parents from the same area |