614019.7.1

Saudi Arabia

Microcephaly; Severe global developmental delay; Growth delay; Agenesis of corpus callosum; Simplified gyral pattern

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017668.3:c.684_685del	2		Lissencephaly 4

From Eastern Saudi Arabia

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614019.7.2	Saudi Arabia	Microcephaly; Severe global developmental delay; Growth delay; Agenesis of corpus callosum; Simplified gyral pattern	Female	Yes	Yes	Sister of 614019.7.1
614019.7.3	Saudi Arabia		Male			Father of 614019.7.1
614019.7.4	Saudi Arabia		Female			Mother of 614019.7.1