218340.11

Country

Oman

HPO Terms

Global developmental delay ; Seizure ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shape
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Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_138425.4:c.43C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
218340.5OmanGlobal developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; SeizureUnknownYes
218340.6OmanGlobal developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; Microcornea ; Hyperopic astigmatism ; Abnormal retinal morphologyUnknownYes
218340.7OmanGlobal developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; Abnormal facial shapeUnknownYes
218340.8OmanGlobal developmental delay ; Generalized hypotonia; Absent speech; Delayed speech and language development ; Spasticity ; Delayed gross motor development; Abnormal facial shapeUnknownYes
218340.9OmanGlobal developmental delay ; Seizure ; Autistic behavior; Generalized hypotonia; Delayed speech and language development ; Spasticity ; Delayed gross motor development; Abnormal facial shape ; VentriculomegalyUnknownYes
218340.10OmanGlobal developmental delay ; Seizure ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shapeUnknownYes
218340.12OmanGlobal developmental delay ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shapeUnknownYes
218340.16OmanMicrocephaly; Delayed gross motor development; Delayed fine motor development; Delayed speech and language development; Intellectual disability; HypotoniaMaleYes
218340.17OmanHypotonia; Autism; SeizureFemaleNo
218340.18OmanIntellectual disability, severeMaleYes
218340.19OmanAtrial septal defect; Ventricular septal defect; Coloboma; SeizureMale
218340.21OmanAbnormal facial shape; Global developmental delay; Intellectual disabilityMaleYesYesAffected cousin
218340.22OmanIntellectual disability; Delayed speech and language developmentFemaleYesYesPatient has two affected siblings
218340.23OmanGlobal developmental delay; Seizure; AutismFemale
218340.24OmanAutism; Hypotonia; Neurodevelopmental delayMaleNoNo
218340.25OmanSevere global developmental delay; Seizure; Developmental regression; MacrocephalyMaleYesYesPatient has a similarly affected younger brother
218340.26OmanIntellectual disability; Delayed speech and language development; Motor delay; Abnormal facial shape; Hydronephrosis; Abnormal corpus callosum morphologyFemaleYesYes
218340.27OmanGlobal developmental delay; Visual lossMaleYes
218340.28OmanFailure to thrive; Intellectual disability; Agenesis of corpus callosum; SeizureMale
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