216550.5.1

Country

Lebanon

HPO Terms

Intellectual disability; Microcephaly; Cutis gyrata of scalp; Prominent supraorbital ridges; Rod-cone dystrophy; Cataract; Sensorineural hearing impairment; Kyphoscoliosis; Prominent nose; Hypertelorism
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017890.4:c.9406-1G>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
216550.5.2LebanonIntellectual disability; Microcephaly; Cutis gyrata of scalp; Prominent supraorbital ridges; Rod-cone dystrophy; Cataract; Sensorineural hearing impairment; Kyphoscoliosis; Prominent nose; HypertelorismMaleYesNoBrother of 216550.5.1
216550.5.3LebanonFemaleYesNoUnaffected mother of 216550.5.1
216550.5.4LebanonFemaleYesNoUnaffected sister of 216550.5.1
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