611134.1

Country

Saudi Arabia

HPO Terms

Global developmental delay; Oculomotor apraxia; Molar tooth sign on MRI; Retinal dystrophy
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_025114.4:c.5668G>T2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
611134.2Saudi ArabiaIntrauterine growth retardation; Microcephaly; Occipital encephalocele; AnencephalyFemaleYes
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