autosomal recessive intellectual developmental disorder 59

Summary
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21.
Super Class
autosomal recessive intellectual developmental disorder
Disease Ontology
DOID:0081221
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3612 IMPA1 inositol monophosphatase 1
The Human Phenotype Ontology
Displaying all 4 entries
HPO ID HPO Term
HP:0000718 Aggressive behavior
HP:0011999 Paranoia
HP:0000007 Autosomal recessive inheritance
HP:0001249 Intellectual disability
Displaying 1 entry
Gene ID Gene Symbol Description
3612 IMPA1 inositol monophosphatase 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: December 9, 2024