218340.25

Country

Saudi Arabia

HPO Terms

Severe global developmental delay; Seizure; Developmental regression; Macrocephaly
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

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

Remarks

Patient has a similarly affected younger brother

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
218340.5Saudi ArabiaGlobal developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; SeizureUnknownYes
218340.6Saudi ArabiaGlobal developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; Microcornea ; Hyperopic astigmatism ; Abnormal retinal morphologyUnknownYes
218340.7Saudi ArabiaGlobal developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; Abnormal facial shapeUnknownYes
218340.8Saudi ArabiaGlobal developmental delay ; Generalized hypotonia; Absent speech; Delayed speech and language development ; Spasticity ; Delayed gross motor development; Abnormal facial shapeUnknownYes
218340.9Saudi ArabiaGlobal developmental delay ; Seizure ; Autistic behavior; Generalized hypotonia; Delayed speech and language development ; Spasticity ; Delayed gross motor development; Abnormal facial shape ; VentriculomegalyUnknownYes
218340.10Saudi ArabiaGlobal developmental delay ; Seizure ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shapeUnknownYes
218340.11Saudi ArabiaGlobal developmental delay ; Seizure ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shapeUnknownYes
218340.12Saudi ArabiaGlobal developmental delay ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shapeUnknownYes
218340.16Saudi ArabiaMicrocephaly; Delayed gross motor development; Delayed fine motor development; Delayed speech and language development; Intellectual disability; HypotoniaMaleYes
218340.17Saudi ArabiaHypotonia; Autism; SeizureFemaleNo
218340.18Saudi ArabiaIntellectual disability, severeMaleYes
218340.19Saudi ArabiaAtrial septal defect; Ventricular septal defect; Coloboma; SeizureMale
218340.21Saudi ArabiaAbnormal facial shape; Global developmental delay; Intellectual disabilityMaleYesYesAffected cousin
218340.22Saudi ArabiaIntellectual disability; Delayed speech and language developmentFemaleYesYesPatient has two affected siblings
218340.23Saudi ArabiaGlobal developmental delay; Seizure; AutismFemale
218340.24Saudi ArabiaAutism; Hypotonia; Neurodevelopmental delayMaleNoNo
218340.26Saudi ArabiaIntellectual disability; Delayed speech and language development; Motor delay; Abnormal facial shape; Hydronephrosis; Abnormal corpus callosum morphologyFemaleYesYes
218340.27Saudi ArabiaGlobal developmental delay; Visual lossMaleYes
218340.28Saudi ArabiaFailure to thrive; Intellectual disability; Agenesis of corpus callosum; SeizureMale
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