604804.2

Egypt

Agenesis of corpus callosum; Brachycephaly; Abnormally large globe; Prominent nasal tip; Short neck; Hypoplastic pelvis; Thoracic platyspondyly

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001011649.3:c.4005-15A>G	2		Microcephaly 3, Primary, Autosomal Recessive
NM_007018.6:c.586C>T	2		Microcephaly 3, Primary, Autosomal Recessive