236200.10.1

Country

Saudi Arabia

HPO Terms

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Osteoporosis; Genu valgum; Inguinal hernia
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000071.3:c.1006C>T2NA

Remarks

Patient II-1 from Family 8 in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
236200.10.2Saudi ArabiaIntellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Osteoporosis; Genu valgum ; Aggressive behavior; Attention deficit hyperactivity disorder; Cerebral dysmyelinationMaleYesPatient II-2 from Family 8 in the publication, brother of 236200.10.1
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