Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001281723.3:c.1270G>C | 1 | |||
| NM_001281723.3:c.497G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 253260.5 | United Arab Emirates | Delayed speech and language development; Specific learning disability | Male | Yes | Yes | Affected brother |
| 253260.7 | United Arab Emirates | Decreased biotinidase level | Male | Yes | Yes | Infant with double homozygous BTD variants contributing to profound biotinidase deficiency. He has a brother with speech delay and absent serum biotinidase activity (no molecular test). |
| 253260.8 | United Arab Emirates | Male | ||||
| 253260.9 | United Arab Emirates | Global developmental delay; Seizure; Blindness; Sleep disturbance; Hearing impairment | Male | No | Yes |