KEGG   DISEASE: Macrocephaly macrosomia facial dysmorphism syndrome
Entry
H01308                      Disease                                
Name
Macrocephaly macrosomia facial dysmorphism syndrome
Description
Macrocephaly macrosomia facial dysmorphism syndrome is characterized by overgrowth, learning disability, and dysmorphic features. Mutations in RNF135 cause this syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H01308  Macrocephaly macrosomia facial dysmorphism syndrome
Gene
RNF135 [HSA:84282] [KO:K16272]
Other DBs
ICD-11: LD2C
ICD-10: Q87.3
OMIM: 614192
Reference
PMID:17632510
  Authors
Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T, Rahman N
  Title
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
  Journal
Nat Genet 39:963-5 (2007)
DOI:10.1038/ng2083
LinkDB

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