615085.2

United Arab Emirates

Hypotonia; Optic atrophy; Osteopetrosis; Pulmonary hypoplasia; Hyperpigmented/hypopigmented macules

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001199835.1:c.112-1G>C	2		Osteopetrosis, Autosomal Recessive 8