616801.1

Country

Lebanon

HPO Terms

Intellectual disability; Muscular hypotonia; Motor delay; Failure to thrive; Strabismus; Delayed eruption of teeth; Delayed speech and language development; Single transverse palmar crease
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Sex

Male

Parental Consanguinity

Yes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
616801.2LebanonNeonatal hypotonia; Neurodevelopmental delay; Faliure to thrive; Triangular face; High forehead; StrabismusMaleNoYes
616801.5LebanonInfantile axial hypotonia; Psychomotor retardation; Failure to thrive; Hypoplasia of the corpus callosumFemaleYesYesSimilarly affected paternal cousin (deceased in childhood)
616801.6LebanonPsychomotor retardation; Failure to thrive; Choreoathetosis; Axial hypotonia; Parietal cortical atrophy; Frontal cortical atrophyMaleYes
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