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

• ICD10CM:Q04.3
• MIM:614969
• ORDO:284339

Ontology

Human Disease   ( DOID:0060276 )