Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001199835.1:c.46C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615085.1.1 | Iraq | Macrocephaly; Anemia; Leukopenia; Splenomegaly; Hypoplasia of the corpus callosum; Extra-axial cerebrospinal fluid accumulation; Brain atrophy; Uncontrolled eye movements; Strabismus; Proptosis; Gait disturbance; Wide anterior fontanel; Prominent forehead; Increased density of long bones; Short femoral neck; Metaphyseal dysplasia | Male | Yes | Yes | Proband. Cousin with similar features in addition to blindness and deafness. |
| 615085.1.2 | Iraq | Male | Yes | Yes | Father of 615085.1.1 | |
| 615085.1.3 | Iraq | Female | Yes | Yes | Mother of 615085.1.1 |