616801.6

Country

Egypt

HPO Terms

Psychomotor retardation; Failure to thrive; Choreoathetosis; Axial hypotonia; Parietal cortical atrophy; Frontal cortical atrophy
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Sex

Male

Parental Consanguinity

Yes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
616801.1EgyptIntellectual disability; Muscular hypotonia; Motor delay; Failure to thrive; Strabismus; Delayed eruption of teeth; Delayed speech and language development; Single transverse palmar creaseMaleYes
616801.2EgyptNeonatal hypotonia; Neurodevelopmental delay; Faliure to thrive; Triangular face; High forehead; StrabismusMaleNoYes
616801.5EgyptInfantile axial hypotonia; Psychomotor retardation; Failure to thrive; Hypoplasia of the corpus callosumFemaleYesYesSimilarly affected paternal cousin (deceased in childhood)
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