620021.1.1

Country

Oman

HPO Terms

Global developmental delay; Intellectual disability, severe; Autistic behavior; Abnormal facial shape; Hypertelorism; Myopathy; Disproportionate tall stature
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_173791.5:c.2197_2200del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
620021.1.2OmanGlobal developmental delay; Intellectual disability, moderate; Autistic behavior; Abnormal facial shape; Hypertelorism; Myopathy; Seizure; Obsessive-compulsive behaviorMaleYesYesSibling of 620021.1.1
620021.1.3OmanGlobal 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 callosumFemaleYesYesSibling of 620021.1.1
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