200990.2

Saudi Arabia

Macrocephaly; Syndactyly; Polydactyly; Colpocephaly; Agenesis of corpus callosum; Ventriculomegaly; Hypotonia; Craniofacial asymmetry

Female

Yes

Yes

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

Subject has two similarly affected brothers (one of whom is deceased) and three similarly affected deceased paternal great-uncles.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
200990.3	Saudi Arabia	Macrocephaly; Syndactyly; Polydactyly; Dextrocardia; Agenesis of corpus callosum	Female	Yes	Yes