617622.2.1

Country

Saudi Arabia

HPO Terms

Global developmental delay; Retinal dystrophy; Abnormality of eye movement; Polydactyly; Ptosis; Wide nasal bridge; Thin upper lip vermilion; 2-3 toe syndactyly; Molar tooth sign on MRI; Superior cerebellar dysplasia
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Sex

Female

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_025139.6:c.1559C>T2

Remarks

Proband

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
617622.2.2Saudi ArabiaGlobal developmental delay; Ptosis; Molar tooth sign on MRI; Superior cerebellar dysplasia; Thick corpus callosum; Apnea; TachypneaMaleYesAffected relative of the proband.
617622.2.3Saudi ArabiaMaleHealthy father of 617622.2.1
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