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 11 - 20 of 34 in total
HPO ID HPO Term
HP:0000215 Thick upper lip vermilion
HP:0004305 Involuntary movements
HP:0000639 Nystagmus
HP:0012856 Abnormal scrotal rugation
HP:0001252 Hypotonia
HP:0000347 Micrognathia
HP:0002365 Hypoplasia of the brainstem
HP:0000028 Cryptorchidism
HP:0001257 Spasticity
HP:0000062 Ambiguous genitalia
Displaying 1 entry
Gene ID Gene Symbol Description
9562 MINPP1 multiple inositol-polyphosphate phosphatase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024