Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001281723.3:c.1270G>C | 1 | |||
NM_001281723.3:c.1147T>G | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
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 | ||||
253260.9 | United Arab Emirates | Global developmental delay; Seizure; Blindness; Sleep disturbance; Hearing impairment | Male | No | Yes |