KEGG   DISEASE: Developmental delay, language impairment, and ocular abnormalities
Entry
H03042                      Disease                                
Name
Developmental delay, language impairment, and ocular abnormalities
Description
Developmental delay, language impairment, and ocular abnormalities (DEVLO) is a neurodevelopmental disorder characterized by significant speech impairment, mild motor delays, microcephaly, and variable ocular abnormalities. It is caused by heterozygous mutations in the ARPC4 gene, which encodes a subunit of the ARP2/3 actin polymerization complex.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H03042  Developmental delay, language impairment, and ocular abnormalities
Pathway-based classification of diseases [BR:br08402]
 Cellular processes
  nt06549  Cadherin signaling
   H03042  Developmental delay, language impairment, and ocular abnormalities
Pathway
hsa04519 Cadherin signaling   
Network
nt06549 Cadherin signaling
Gene
ARPC4 [HSA:10093] [KO:K05755]
Other DBs
ICD-11: LD2F.Y
OMIM: 620141
Reference
PMID:35047857
  Authors
Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC
  Title
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay.
  Journal
HGG Adv 3:100072 (2022)
DOI:10.1016/j.xhgg.2021.100072
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