616784.1.2

Country

Saudi Arabia

HPO Terms

Recurrent upper respiratory tract infections; Global developmental delay; Cerebellar vermis hypoplasia; Molar tooth sign on MRI; Hypotonia; Seizure; Ptosis
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015202.5:c.2674C>T2

Remarks

Sibling of 616784.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
616784.1.1Saudi ArabiaTachypnea; Neonatal hyperbilirubinemia; Recurrent upper respiratory tract infections; Global developmental delay; Ectopic posterior pituitary; Anterior pituitary hypoplasia; Cerebellar vermis hypoplasia; Molar tooth sign on MRI; Central hypothyroidism; Short stature; HypotoniaFemaleYesYes
616784.1.3Saudi ArabiaTachypnea; Global developmental delay; Ectopic posterior pituitary; Anterior pituitary hypoplasia; Cerebellar vermis hypoplasia; Molar tooth sign on MRI; Bilateral cleft lip and palate; Micropenis; Neonatal respiratory distressMaleYesYesSibling of 616784.1.1
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