neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia

Term ID

DOID:0070812

Synonyms

• NEDHGFA

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. https://pubmed.ncbi.nlm.nih.gov/37943617/

References

• MIM:621068
• UMLS_CUI:C5975596

Ontology

Human Disease   ( DOID:0070812 )