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Metadata
ID DOID:0060589
Name Yunis-Varon 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
Xrefs

GARD:331

MESH:C536719

OMIM:216340

UMLS_CUI:C1857663

Synonyms

cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia [EXACT]

cleidocranial dysplasia-micrognathia-absent thumbs syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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