| Metadata | |
|---|---|
| ID | DOID:0070700 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070700 Copy |
| Name | Luo-Agrawal neurodevelopmental syndrome |
| Definition | A syndrome characterized by neurodevelopmental delay, hypotonia, dysmorphic features, and growth restriction with or without structural brain abnormalities that has_material_basis_in homozygous mutation in the WSB2 gene on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/40374945/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621552 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |