autosomal recessive intellectual developmental disorder 1

Summary
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25.
Super Class
autosomal recessive intellectual developmental disorder
External Links
Disease Ontology
DOID:0081177
Mondo Disease Ontology
OMIM

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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