210710.G.1

Saudi Arabia

Short stature; Primary microcephaly; Intellectual disability; Hydronephrosis; Ichthyosis

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NR_023343.1:n.13C>T	3	NA	Microcephalic Osteodysplastic Primordial Dwarfism, Type I
NR_023343.1:n.46G>A	3	NA	Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Three related patients