616211.3.3

Country

United Arab Emirates

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_016373.4:c.(?_173)_(409_?)del1

Remarks

Mother of 616211.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
616211.3.1United Arab EmiratesFailure to thrive; Secondary microcephaly; Severe global developmental delay; Abnormal visual fixation; Absent speech; Axial hypotonia; Hypertonia; Hypokinesia; Optic atrophy; Hypsarrhythmia; Epileptic spasm; SeizureMaleYesYesDeletion variant harbored involves exons 3 to 4. The patient had two cousins with spasticity and profound developmental delay. They required ventilation and one died at 4 years of age.
616211.3.2United Arab EmiratesMaleFather of 616211.3.1
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