Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001370658.1:c.500del | 2 |
| 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 |
| 253260.6 | United Arab Emirates | Strabismus; Delayed speech and language development; Hyperpigmented/hypopigmented macules; Hearing impairment | Male | Yes | Yes | Sibling with hyperactivity |
| 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 |