Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis (BAIDCS)

External Ids:

OMIM 56 618736 MeSH 43 D003398 D008607 D009421

MedGen 41 CN263148 SNOMED-CT via HPO 68 109417006 111266001 11934000 128602000 13649004 14447001 15253005 22066006 228156007 246800008 247578003 263681008 271611007 295091000119100 5102002 64217002 76916001 91138005 95499004 more

OMIM : ⁵⁶ Patients with BAIDCS have small head circumference with abnormalities in brain anatomy including variable deficiency of the corpus callosum (including agenesis), abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial rhombencephalosynapsis (absence of the cerebellar vermis with fusion of the cerebellar hemispheres). Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present (Twigg et al., 2015; Vandervore et al., 2018). Craniosynostosis-6 (CRS6; 616602) is an allelic disorder. (618736)

MalaCards based summary : Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis, also known as baidcs, is related to craniosynostosis 6. An important gene associated with Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis is ZIC1 (Zic Family Member 1). Affiliated tissues include brain, pons and cerebellum, and related phenotypes are intellectual disability and scoliosis

UniProtKB/Swiss-Prot : ⁷³ Structural brain anomalies with impaired intellectual development and craniosynostosis: A disease characterized by microcephaly, agenesis of corpus callosum, abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial absence of the cerebellar vermis with fusion of the cerebellar hemispheres. Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present.

Clinical features from OMIM:

618736

Search Clinical Trials , NIH Clinical Center for Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis

Search GEO for disease gene expression data for Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis.