200990.1.2

Saudi Arabia

Global developmental delay; Agenesis of corpus callosum; Abnormal facial shape

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_198525.3:c.3331C>T	2	NA	Acrocallosal Syndrome

Relative of 200990.1.1; this patient has Joubert Syndrome 12, phenotype overlapping acrocallosal syndrome.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
200990.1.1	Saudi Arabia	Global developmental delay; Agenesis of corpus callosum; Abnormal facial shape	Male	Yes	Yes	Patient has Joubert Syndrome 12, phenotype overlapping acrocallosal syndrome.