615636.1

United Arab Emirates

Seizure; Global developmental delay; Hydrocephalus; Congenital hypothyroidism; Abnormal facial shape; Cleft palate; Sensorineural hearing impairment

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024790.6:c.2131_2132del	2		Joubert Syndrome 21

Mother had recurrent abortions