Term Name:	neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
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.
Ontology:	Human Disease [DOID:0070812]   ( DOID:0070812 )