BAIDCS
MCID: STR112
MIFTS: 23
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Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis (BAIDCS)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Structural Brain Anomalies with Impaired Intellectual Development...
MalaCards integrated aliases for Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis:
Name: Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis
56
73
29
6
39
Characteristics:HPO:31
structural brain anomalies with impaired intellectual development and craniosynostosis:
Inheritance autosomal dominant inheritance Classifications: |
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. |
Diseases related to Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms & Phenotypes for Structural Brain Anomalies with Impaired Intellectual Development...
Human phenotypes related to Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis:31 (show all 21)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618736 |
Drugs & Therapeutics for Structural Brain Anomalies with Impaired Intellectual Development...
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Genetic tests related to Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis:
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MalaCards organs/tissues related to Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis:40
Brain,
Pons,
Cerebellum,
Spinal Cord
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Articles related to Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis:
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ClinVar genetic disease variations for Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis:6
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Search
GEO
for disease gene expression data for Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis.
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