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| Term | pontocerebellar hypoplasia type 7 | ID (Ontology) | DOID:0060276 (Human Disease) |
| 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. | ||
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neurodegenerative disease |__pontocerebellar hypoplasia |__pontocerebellar hypoplasia type 7 |
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| Is a | pontocerebellar hypoplasia | ||
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ICD10CM:Q04.3 MIM:614969 ORDO:284339 |
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