| Metadata | |
|---|---|
| ID | DOID:0060391 |
| Name | chromosome 13q14 deletion syndrome |
| Definition | A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
deletion 13q14 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |