KEGG   DISEASE: Corpus callosum agenesis with facial anomalies and cerebellar ataxia
Entry
H02396                      Disease                                
Name
Corpus callosum agenesis with facial anomalies and cerebellar ataxia
Description
Corpus callosum agenesis with facial anomalies and cerebellar ataxia (CCAFCA) is a novel autosomal recessive microcephaly intellectual disability syndrome with agenesis of corpus callosum and partial hypoplasia of the vermis and cerebellum. This disease is associated with mutations in FRMD4A, that is involved in cell structure, transport and signaling.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02396  Corpus callosum agenesis with facial anomalies and cerebellar ataxia
Gene
FRMD4A [HSA:55691] [KO:K23970]
Other DBs
ICD-11: LD20.Y
OMIM: 616819
Reference
PMID:25388005
  Authors
Fine D, Flusser H, Markus B, Shorer Z, Gradstein L, Khateeb S, Langer Y, Narkis G, Birk R, Galil A, Shelef I, Birk OS
  Title
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.
  Journal
Eur J Hum Genet 23:1729-34 (2015)
DOI:10.1038/ejhg.2014.241
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