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 11 - 20 of 26 in total
Gene ID Gene Symbol Description Source
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
29954 POMT2 protein O-mannosyltransferase 2
50814 NSDHL NAD(P) dependent steroid dehydrogenase-like
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
The Human Phenotype Ontology
Displaying entries 31 - 34 of 34 in total
HPO ID HPO Term
HP:0000151 Aplasia of the uterus
HP:0001276 Hypertonia
HP:0003202 Skeletal muscle atrophy
HP:0000582 Upslanted palpebral fissure
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