Search Ontology:
Human Disease

pontocerebellar hypoplasia type 7

Term ID
DOID:0060276
Synonyms
Definition
A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. https://www.omim.org/entry/614969
References
Ontology
Human Disease   ( DOID:0060276 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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