250100.4.1

Country

Lebanon

HPO Terms

Clumsiness; Spastic gait; Motor delay; Delayed speech and language development; Cerebral dysmyelination
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001085427.2:c.827C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
250100.4.2LebanonMuscle weakness; AreflexiaMaleNoYes
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