255320.1

Country

Saudi Arabia

HPO Terms

Ptosis; Aplasia/Hypoplasia of the sacrum
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000540.3:c.6617C>T2

Remarks

No motor delay

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
255320.2Saudi ArabiaHypotonia; Muscle weakness; Easy fatigability; Exercise intolerance; Autophagic vacuolesMale
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