Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004463.2:c.53del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
305400.1.1 | United Arab Emirates | Global developmental delay; Short stature; Delayed speech and language development; Obesity; Aggressive behavior; Hyperactivity; Abnormal sternum morphology; Brachydactyly; Clinodactyly of the 5th finger; Toe syndactyly; Single transverse palmar crease; Sleep disturbance; Cryptorchidism; Broad forehead; Bilateral ptosis; Blepharophimosis; Telecanthus; Hypertelorism; Epicanthus; Downslanted palpebral fissures; Wide nasal bridge; Short philtrum; Short neck | Male | Yes | Yes | |
305400.1.3 | United Arab Emirates | Female | Yes | Mother of 305400.1.1 |