204200.3.1

Country

Morocco

HPO Terms

Visual loss; Retinal degeneration; Seizure; Progressive forgetfulness; Vacuolated lymphocytes
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
CLN3, 6-KB DEL2

Remarks

Large 6 kb deletion

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
204200.3.2MoroccoUnknownYesYesUnaffected sibling of 204200.3.1
204200.3.3MoroccoUnknownYesYesUnaffected sibling of 204200.3.1
204200.3.4MoroccoUnknownYesYesUnaffected sibling of 204200.3.1
204200.3.5MoroccoUnknownYesYesUnaffected sibling of 204200.3.1
204200.3.6MoroccoUnknownYesYesUnaffected sibling of 204200.3.1
204200.3.7MoroccoMaleYesUnaffected father of 204200.3.1
204200.3.8MoroccoFemaleYesUnaffected mother of 204200.3.1
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