600118.1.3

Country

Lebanon

HPO Terms

Bilateral microphthalmos; Cataract; Cerebral atrophy; Generalized hypotonia; Spastic diplegia; Kyphoscoliosis ; Intellectual disability, severe
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001172435.2:c.2011C>T2

Remarks

Cousin of 600118.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600118.1.1LebanonBilateral microphthalmos; Cataract; Cerebral atrophy; Generalized hypotonia; Spastic diplegia; Kyphoscoliosis ; Intellectual disability, severeFemaleYesYes
600118.1.2LebanonBilateral microphthalmos; Cataract; Cerebral atrophy; Generalized hypotonia; Spastic diplegia; Kyphoscoliosis ; Intellectual disability, severeFemaleYesYesCousin of 600118.1.1
600118.1.4LebanonBilateral microphthalmos; Cataract; Cerebral atrophy; Generalized hypotonia; Spastic diplegia; Kyphoscoliosis ; Intellectual disability, severeMaleYesYesCousin of 600118.1.1
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