pontocerebellar hypoplasia type 9

Summary
Definition
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
Super Class
pontocerebellar hypoplasia
Disease Ontology
DOID:0060278
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
271 AMPD2 adenosine monophosphate deaminase 2
The Human Phenotype Ontology
Displaying entries 11 - 20 of 35 in total
HPO ID HPO Term
HP:0000377 Abnormal pinna morphology
HP:0006970 Periventricular leukomalacia
HP:0001263 Global developmental delay
HP:0012434 Delayed early-childhood social milestone development
HP:0001344 Absent speech
HP:0000737 Irritability
HP:0003477 Peripheral axonal neuropathy
HP:0000007 Autosomal recessive inheritance
HP:0002079 Hypoplasia of the corpus callosum
HP:0000341 Narrow forehead
Displaying 1 entry
Gene ID Gene Symbol Description
271 AMPD2 adenosine monophosphate deaminase 2

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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: December 9, 2024