616801.2

Country

Syria

HPO Terms

Neonatal hypotonia; Neurodevelopmental delay; Faliure to thrive; Triangular face; High forehead; Strabismus
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
616801.1SyriaIntellectual disability; Muscular hypotonia; Motor delay; Failure to thrive; Strabismus; Delayed eruption of teeth; Delayed speech and language development; Single transverse palmar creaseMaleYes
616801.5SyriaInfantile axial hypotonia; Psychomotor retardation; Failure to thrive; Hypoplasia of the corpus callosumFemaleYesYesSimilarly affected paternal cousin (deceased in childhood)
616801.6SyriaPsychomotor retardation; Failure to thrive; Choreoathetosis; Axial hypotonia; Parietal cortical atrophy; Frontal cortical atrophyMaleYes
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