3-140 (Predicted disordered autoinhibitory region)

[MIM: 619534]: Biliary, renal, neurologic, and skeletal syndrome (BRENS)

An autosomal recessive ciliopathy with multisystemic manifestations including severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development. {ECO:0000269|PubMed:31595528, ECO:0000269|PubMed:32617964}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

• An autosomal recessive ciliopathy with multisystemic manifestations including severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development. {ECO:0000269|PubMed:31595528, ECO:0000269|PubMed:32617964}. Note=The disease is caused by variants affecting the gene represented in this entry.