Saudi Arabia

HPO Terms

Microcephaly; Intellectual disability; Motor delay; Hypotonia; Abnormal facial shape

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
254090.2Saudi ArabiaMotor delay; Delayed speech and language development; Severe muscular hypotoniaMaleNo
254090.4Saudi ArabiaFailure to thrive; Macrocephaly; Hydrocephalus; Hypotonia; Rocker bottom footFemaleYesYes2 siblings died of hypotonia
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