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Metadata
ID DOID:0110984
Name Joubert syndrome 15
Definition A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32.
https://www.ncbi.nlm.nih.gov/pubmed/22246503
Xrefs

MIM:614464

Synonyms

JBTS15 [EXACT]

Parent Relationships

is_a Joubert syndrome

is_a digenic disease

Subclass Logical Relationships

has material basis in some digenic inheritance

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