616801.3.1

Country

Saudi Arabia

HPO Terms

Muscular hypotonia; Severe; Neurodevelopmental delay; Generalized myoclonic-tonic-clonic seizure; Failure to thrive; Spastic paraparesis; Death in infancy

Remarks

Two older similarly affected siblings died undiagnosed
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
616801.3.2Saudi ArabiaMuscular hypotonia; Neurodevelopmental delay; Failure to thrive; Microcephaly; BrachycephalyFemaleYesYesSibling of 616801.3.1
616801.3.3Saudi ArabiaIntrauterine growth retardation; Muscular hypotonia; Global development delay; Failure to thrive; HydronephrosisFemaleYesYesRelative of 616801.3.1
616801.3.4Saudi ArabiaIntrauterine growth retardation; Microcephaly; Joint contracture; Global development delay; Failure to thrive; Recurrent aspiration pneumoniaFemaleYesYesSibling of 616801.3.3
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