188400.1.4

Saudi Arabia

Hypoparathyroidism; Conductive hearing impairment; Seizure; Facial asymmetry; Bulbous nose; Nasal speech

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_080647.1:c.1158_1159delinsT	1		DiGeorge Syndrome

Father of proband. Siblings, parents, and spouse are healthy. Spouse lacks the implicated variant.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
188400.1.1	Saudi Arabia	Hyperparathyroidism; Chvostek sign; Seizure; Delayed speech and language development; Hypertelorism	Male	Yes	No	Proband
188400.1.2	Saudi Arabia	Hypertelorism; Chvostek sign; Seizure; Hypocalcemia; Downslanted palpebral fissures; Bulbous nose; Low-set ears	Male	Yes	No	Sibling of proband
188400.1.3	Saudi Arabia	Otitis media; Seizure; Hypocalcemia	Female	Yes	No	Sibling of proband