241410.1

United Arab Emirates

Global developmental delay; Failure to thrive; Seizure; Abnormal facial shape; Abnormality of the endocrine system

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001079515.2:c.155_166del	2		Hypoparathyroidism-Retardation-Dysmorphism Syndrome