Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
15q26.1
The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet. It is considered a ciliopathy. Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 200990.1.1 | Saudi Arabia | Male | Yes | Yes | Global developmental delay; Agenesis of ... Global developmental delay; Agenesis of corpus callosum; Abnormal facial shape  | NM_198525.3:c.3331C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | Patient has Joubert ... |
| 200990.1.2 | Saudi Arabia | Male | Yes | Yes | Global developmental delay; Agenesis of ... Global developmental delay; Agenesis of corpus callosum; Abnormal facial shape | NM_198525.3:c.3331C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | Relative of 200990.1... |
| 200990.2 | Saudi Arabia | Female | Yes | Yes | Macrocephaly; Syndactyly; Polydactyly; C... Macrocephaly; Syndactyly; Polydactyly; Colpocephaly; Agenesis of corpus callosum; Ventriculomegaly; Hypotonia; Craniofacial asymmetry | NM_198525.3:c.3331C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018; Shaheen et al. 2017 | Subject has two simi... |
| 200990.3 | Saudi Arabia | Female | Yes | Yes | Macrocephaly; Syndactyly; Polydactyly; D... Macrocephaly; Syndactyly; Polydactyly; Dextrocardia; Agenesis of corpus callosum | NM_198525.3:c.3331C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 |