ZFIN Human Disease: Yunis-Varon syndrome

OBO ID: DOID:0060589

Term Name:	Yunis-Varon syndrome		Search Ontology:
Synonyms:	cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Definition:	A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/23623387
References:	GARD:331 MESH:C536719 OMIM:216340 UMLS_CUI:C1857663
Ontology:	Human Disease ( DOID:0060589 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FIG4	fig4a fig4b	Yunis-Varon syndrome	216340

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None