neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia Disease Ontology Browser

Home
Genes
Phenotypes
Human Disease
Expression
Recombinases
Function
Strains / SNPs
Homology
Tumors

About Help FAQ

Search
Download
More Resources
Submit Data
Find Mice (IMSR)
Analysis Tools
Contact Us
Browsers

Disease Ontology Browser

neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia (DOID:0070812)
Alliance: disease page
Synonyms: NEDHGFA
Alt IDs: OMIM:621068, UMLS_CUI:C5975596
Definition: A syndrome characterized by early infantile onset of hypotonia, feeding difficulties, poor overall growth, dysmorphic facies, profound developmental delay, and recurrent upper and lower respiratory infections associated with agammaglobulinemia that has_material_basis_in homozygous mutation in the SEL1L gene on chromosome 14q31.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/01/2026 MGI 6.24