KEGG   DISEASE: Neurodevelopmental disorder with hypotonia and dysmorphic facies
Entry
H02885                      Disease                                
Name
Neurodevelopmental disorder with hypotonia and dysmorphic facies
  Supergrp
Neurodevelopmental disorder with glutamatergic synapse dysfunction [DS:H02705]
Description
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay, intellectual disability, and dysmorphism. GNB2 mutations have been reported to cause this disease.
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
   H02885  Neurodevelopmental disorder with hypotonia and dysmorphic facies
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06544  Neuroactive ligand signaling
   H02885  Neurodevelopmental disorder with hypotonia and dysmorphic facies
Pathway
hsa04727  GABAergic synapse
Network
nt06544 Neuroactive ligand signaling
Gene
GNB2 [HSA:2783] [KO:K04537]
Other DBs
ICD-11: LD90.Y
OMIM: 619503
Reference
PMID:34183358
  Authors
Tan NB, Pagnamenta AT, Ferla MP, Gadian J, Chung BH, Chan MC, Fung JL, Cook E, Guter S, Boschann F, Heinen A, Schallner J, Mignot C, Keren B, Whalen S, Sarret C, Mittag D, Demmer L, Stapleton R, Saida K, Matsumoto N, Miyake N, Sheffer R, Mor-Shaked H, Barnett CP, Byrne AB, Scott HS, Kraus A, Cappuccio G, Brunetti-Pierri N, Iorio R, Di Dato F, Pais LS, Yeung A, Tan TY, Taylor JC, Christodoulou J, White SM
  Title
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
  Journal
J Med Genet 59:511-516 (2022)
DOI:10.1136/jmedgenet-2020-107462
Reference
PMID:33971351
  Authors
Lansdon LA, Fleming EA, Viso FD, Sullivan BR, Saunders CJ
  Title
Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association.
  Journal
Eur J Med Genet 64:104243 (2021)
DOI:10.1016/j.ejmg.2021.104243
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