216550.5.4

Country

Lebanon
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017890.4:c.9406-1G>T1

Remarks

Unaffected sister of 216550.5.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
216550.5.1LebanonIntellectual disability; Microcephaly; Cutis gyrata of scalp; Prominent supraorbital ridges; Rod-cone dystrophy; Cataract; Sensorineural hearing impairment; Kyphoscoliosis; Prominent nose; HypertelorismMaleYesNo
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
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