224410.1

Country

Arab

HPO Terms

Neonatal respiratory distress; Prominent nose; Short stature; Microcephaly; Scoliosis
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005529.7:c.10894C>T2NA

Remarks

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
224410.2ArabKyphosis; Cervical spinal canal stenosis; Narrow mouth; Long eyelashes; BrachycephalyMaleYes
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