autosomal recessive intellectual developmental disorder 52

Summary
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11.
Super Class
autosomal recessive intellectual developmental disorder
Disease Ontology
DOID:0081215
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
81562 LMAN2L lectin, mannose binding 2 like
Displaying 1 entry
Gene ID Gene Symbol Description Source
214895 Lman2l lectin, mannose-binding 2-like
The Human Phenotype Ontology
Displaying all 6 entries
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0000718 Aggressive behavior
HP:0010864 Intellectual disability, severe
HP:0000007 Autosomal recessive inheritance
HP:0003593 Infantile onset
HP:0001250 Seizure
Displaying 1 entry
Gene ID Gene Symbol Description
81562 LMAN2L lectin, mannose binding 2 like

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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