Intellectual developmental disorder, autosomal recessive 74 (MRT74) [MIM:617169]: A disorder characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported. {Experimental EvidencePubMed:25753423}. Note=The disease is caused by variants affecting the gene represented in this entry. Cortical dysplasia, complex, with other brain malformations 10 (CDCBM10) [MIM:618677]: An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM10 is clinically characterized by onset in infancy of global developmental delay, impaired intellectual development, seizures, inability to ambulate, and absent language. Brain imaging shows lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. {Experimental EvidencePubMed:31585108}. Note=The disease is caused by variants affecting the gene represented in this entry.
Y-box-binding protein 1 (YB-1) (CCAAT-binding transcription factor I subunit A) (CBF-A) (DNA-binding protein B) (DBPB) (Enhancer factor I subunit A) (EFI-A) (Nuclease-sensitive element-binding protein 1) (Y-box transcription factor)
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory