| Metadata | |
|---|---|
| ID | DOID:0070812 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070812 Copy |
| Name | neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621068 exactMatch UMLS_CUI:C5975596 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDHGFA [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |