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Metadata
ID DOID:0070118
Name Meckel syndrome 4
Definition A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32.
https://www.ncbi.nlm.nih.gov/pubmed/17564974
Xrefs

ICD10CM:Q61.9

OMIM:611134

Synonyms

Meckel-Gruber syndrome, type 4 [EXACT]

MKS4 [EXACT]

Parent Relationships

is_a Meckel syndrome

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