JSON

Weaver-Williams syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018095

Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. [ Orphanet:3448 ]

Term info

database cross reference
  • Orphanet:3448 (MONDO:equivalentTo)
  • UMLS:CN204431 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_3448, http://linkedlifedata.com/resource/umls/id/CN204431

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0018095