616784.1.1

Country

Saudi Arabia

HPO Terms

Tachypnea; 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; Hypotonia

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015202.5:c.2674C>T	2		Joubert Syndrome 26

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References

Sanders et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616784.1.2	Saudi Arabia	Recurrent upper respiratory tract infections; Global developmental delay; Cerebellar vermis hypoplasia; Molar tooth sign on MRI; Hypotonia; Seizure; Ptosis	Female	Yes	Yes	Sibling of 616784.1.1
616784.1.3	Saudi Arabia	Tachypnea; 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 distress	Male	Yes	Yes	Sibling of 616784.1.1