pontocerebellar hypoplasia type 7

Summary
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.
Super Class
pontocerebellar hypoplasia
External Links
Disease Ontology
DOID:0060276
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 21 - 26 of 26 in total
Gene ID Gene Symbol Description Source
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
160418 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 34 in total
HPO ID HPO Term
HP:0001249 Intellectual disability
HP:0006955 Olivopontocerebellar hypoplasia
HP:0000252 Microcephaly
HP:0002060 Abnormal cerebral morphology
HP:0000133 Gonadal dysgenesis
HP:0001263 Global developmental delay
HP:0002500 Abnormal cerebral white matter morphology
HP:0000431 Wide nasal bridge
HP:0000054 Micropenis
HP:0001336 Myoclonus
Displaying 1 entry
Gene ID Gene Symbol Description
9562 MINPP1 multiple inositol-polyphosphate phosphatase 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024