Saul-Wilson syndrome

Summary
Synonym
  • SWILS
  • microcephalic osteodysplastic dysplasia, Saul-Wilson type
Definition
A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1.
Super Class
autosomal dominant disease bone development disease
Disease Ontology
DOID:0111673
Mondo Disease Ontology
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
25839 COG4 component of oligomeric golgi complex 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
856220 COG4 Golgi transport complex subunit COG4
The Human Phenotype Ontology
Displaying entries 11 - 20 of 49 in total
HPO ID HPO Term
HP:0004279 Short palm
HP:0004322 Short stature
HP:0004582 Irregularity of vertebral bodies
HP:0010230 Cone-shaped epiphyses of the phalanges of the hand
HP:0011833 Overhanging nasal tip
HP:0200055 Small hand
HP:0000006 Autosomal dominant inheritance
HP:0000260 Wide anterior fontanel
HP:0000347 Micrognathia
HP:0000365 Hearing impairment
Displaying 1 entry
Gene ID Gene Symbol Description
25839 COG4 component of oligomeric golgi complex 4

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024