213300.1

Country

Oman; United Arab Emirates

HPO Terms

Retinal dystrophy ; Molar tooth sign on MRI ; Renal cyst ; Hepatic fibrosis
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Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_019892.6:c.1543C>T2

Remarks

Emirati patient of Omani origin from 'MTI-498' family in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
213300.2Oman; United Arab EmiratesAtaxia; Global developmental delay; Intellectual disability; Oculomotor apraxia; Dyspnea; Molar tooth sign on MRIFemaleNoYesEmirati patient of Omani origin from 'MTI-134' family in the publication
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