ZFIN Human Disease: Williams-Beuren syndrome

OBO ID: DOID:1928

Term Name:	Williams-Beuren syndrome		Search Ontology:
Synonyms:	Fanconi Schlesinger syndrome WBS
Definition:	A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. (3)
References:	ICD10CM:Q93.82 MESH:D018980 NCI:C85232 OMIM:194050 SNOMEDCT_US_2023_03_01:63247009 UMLS_CUI:C0175702
Ontology:	Human Disease ( DOID:1928 )

Relationships

is a type of:	autosomal dominant disease chromosomal deletion syndrome syndrome autosomal dominant disease chromosomal deletion syndrome syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None