KEGG   DISEASE: Neurodevelopmental disorder with seizures and joint laxity
Entry
H02997                      Disease                                
Name
Neurodevelopmental disorder with seizures and joint laxity
Description
Neurodevelopmental disorder with seizures and joint laxity (NEDSJL) is a novel neurodevelopmental disorder characterized by global developmental delay, hypotonia, macrocephaly and failure to thrive. It has been reported that NEDSJL is caused by rare variants in a major spliceosomal RNA encoding gene, RNU5B-1.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02997  Neurodevelopmental disorder with seizures and joint laxity
Pathway-based classification of diseases [BR:br08402]
 Replication, repair and transcription
  nt06547  Spliceosome
   H02997  Neurodevelopmental disorder with seizures and joint laxity
Network
nt06547 Spliceosome
Gene
RNU5B-1 [HSA:26832] [KO:K14279]
Other DBs
ICD-11: LD90.Y
OMIM: 621302
Reference
PMID:40442284
  Authors
Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, Campbell J, Shannon N, Choi J, Hong J, Hunt D, de Burca A, Kim SY, Kim T, Lee S, Redman M, Rius R, Simons C, Tan TY, Ellingford J, O'Keefe RT, Chae JH, Banka S
  Title
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.
  Journal
Nat Genet 57:1362-1366 (2025)
DOI:10.1038/s41588-025-02209-y
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