103580.1

Saudi Arabia

Metopic synostosis; Hydronephrosis; Gray Matter Heterotopia; Hypoplasia of the corpus callosum

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_080425.4:c.2405T>C	1	NA	Pseudohypoparathyroidism, Type IA

Mutation is de novo and patient's parents are from the same tribe.