KEGG   DISEASE: Neurodevelopmental disorder with poor growth and skeletal anomalies
Entry
H03041                      Disease                                
Name
Neurodevelopmental disorder with poor growth and skeletal anomalies
Description
Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, seizures, and intellectual disability. Mutations in the Protocadherin gamma-C4 (PCDHGC4), a member of the clustered PCDH family, have been identified as the cause of 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
   H03041  Neurodevelopmental disorder with poor growth and skeletal anomalies
Pathway-based classification of diseases [BR:br08402]
 Cellular processes
  nt06549  Cadherin signaling
   H03041  Neurodevelopmental disorder with poor growth and skeletal anomalies
Pathway
hsa04519 Cadherin signaling   
Network
nt06549 Cadherin signaling
Gene
PCDHGC4 [HSA:56098] [KO:K16497]
Other DBs
ICD-11: LD90.Y
OMIM: 619880
Reference
PMID:34244665
  Authors
Iqbal M, Maroofian R, Cavdarli B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmuller J, Motameny S, Hohne W, Houlden H, Nurnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G
  Title
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
  Journal
Genet Med 23:2138-2149 (2021)
DOI:10.1038/s41436-021-01260-4
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