275900.1.5

Country

United Arab Emirates

HPO Terms

Developmental regression
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015087.4:c.1324G>C2

Remarks

First cousin of 275900.1.1. Sha had a younger brother who died in infancy from complex congenital heart disease.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
275900.1.1United Arab EmiratesProgressive cerebellar ataxia; Global developmental delay; Brisk reflexes; Hypertonia; Dysarthria; Dysphagia; Failure to thrive; Unsteady gait; Frequent falls; Poor fine motor coordination; Intention tremor; Emotional lability; Babinski sign; Dysdiadochokinesis; Proximal muscle weakness in lower limbs; Medial deviation of the foot; Pes cavus; Periventricular leukomalacia; Hypopigmented maculeMaleYesYesProband
275900.1.2United Arab EmiratesLimb dystonia; Spastic ataxia; Global developmental delay; Brisk reflexes; Intention tremor; Emotional labilityFemaleYesYesSister of 275900.1.1
275900.1.3United Arab EmiratesGlobal developmental delay; Brisk reflexes; Dysphagia; Drooling; Gait ataxia; Tip-toe gait; Scissor gait; Motor delay; Delayed speech and language development; Proximal muscle weakness in lower limbs; Brisk reflexes; Kyphosis; Hypopigmented maculeMaleYesYesBrother of 275900.1.1
275900.1.4United Arab EmiratesDevelopmental regression; Short stature; Failure to thrive; Drooling; Delayed speech and language development; Frequent falls; Aggressive behavior; Lumbar hyperlordosis; Talipes equinovarus; Abnormal periventricular white matter morphology; ; Brisk reflexes; Dysphagia; Drooling; Gait ataxia; Tip-toe gait; Scissor gait; Motor delay; Delayed speech and language development; Proximal muscle weakness in lower limbs; Brisk reflexes; Kyphosis; Hypopigmented maculeFemaleYesYesFirst cousin of 275900.1.1. Sha had a younger brother who died in infancy from complex congenital heart disease.
275900.1.6United Arab EmiratesMaleFather of 275900.1.1
275900.1.7United Arab EmiratesFemaleMother of 275900.1.1
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