Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_173791.5:c.2197_2200del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
620021.1.2 | Oman | Global developmental delay; Intellectual disability, moderate; Autistic behavior; Abnormal facial shape; Hypertelorism; Myopathy; Seizure; Obsessive-compulsive behavior | Male | Yes | Yes | Sibling of 620021.1.1 |
620021.1.3 | Oman | Global developmental delay; Intellectual disability, severe; Autistic behavior; Abnormal facial shape; Hypertelorism; Myopia; Myopathy; Seizure; Abnormal heart morphology; Attention deficit hyperactivity disorder; Insomnia; Disproportionate tall stature; Hypoplasia of the corpus callosum | Female | Yes | Yes | Sibling of 620021.1.1 |