620007.5.G

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_139278.4:c.422T>A5NA

Remarks

Relatives of 620007.5.1 (parents + three brothers).

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
620007.5.1IraqGlobal developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology; Hyporeflexia; Facial myokymia; Narrow mouthMaleYesYesIndex patient from 'family 6' in the publication
620007.5.2IraqGlobal developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology; Hyporeflexia; Facial myokymia; Narrow mouth; EMG: myokymic dischargesMaleYesYesBrother of 620007.5.1
620007.5.3IraqGlobal developmental delay; Abnormality of limb bone morphology; Hyporeflexia; Facial myokymia; Narrow mouth; Intellectual disability, moderateMaleYesYesBrother of 620007.5.1
Back to search Result
© CAGS 2024. All rights reserved.