616801.3.2

Country

Saudi Arabia

HPO Terms

Muscular hypotonia; Neurodevelopmental delay; Failure to thrive; Microcephaly; Brachycephaly

Remarks

Sibling of 616801.3.1
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
616801.3.1Saudi ArabiaMuscular hypotonia; Severe; Neurodevelopmental delay; Generalized myoclonic-tonic-clonic seizure; Failure to thrive; Spastic paraparesis; Death in infancyMaleYesYesTwo older similarly affected siblings died undiagnosed
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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