KEGG DISEASE: Neurodevelopmental disorder with language delay and variable cognitive abnormalities

KEGG

DISEASE: Neurodevelopmental disorder with language delay and variable cognitive abnormalities

Entry

H02890                      Disease

Name

Neurodevelopmental disorder with language delay and variable cognitive abnormalities

Description

Neurodevelopmental disorder with language delay and variable cognitive abnormalities (NEDLC) is a rare autosomal dominant disorder of neurodevelopmental delay and epilepsy with neurodevelopmental motor and/or language delays. Pathogenic mutations in GABBR1 gene, which encodes GABAB receptor subunit, have been reported to cause this disorder.

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
   H02890  Neurodevelopmental disorder with language delay and variable cognitive abnormalities
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06544  Neuroactive ligand signaling
   H02890  Neurodevelopmental disorder with language delay and variable cognitive abnormalities

Pathway

GABAergic synapse

Neuroactive ligand signaling

Network

nt06544 Neuroactive ligand signaling

Gene

GABBR1 [HSA:2550] [KO:K04615]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Cediel ML, Stawarski M, Blanc X, Noskova L, Magner M, Platzer K, Gburek-Augustat J, Baldridge D, Constantino JN, Ranza E, Bettler B, Antonarakis SE

Title

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.

Journal

Am J Hum Genet 109:1885-1893 (2022)
DOI:10.1016/j.ajhg.2022.08.010

LinkDB

» Japanese version

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