| Metadata | |
|---|---|
| ID | DOID:0070738 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070738 Copy |
| Name | Al Kaissi syndrome |
| Definition | An autosomal recessive intellectual developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability that has_material_basis_in homozygous mutation in the CDK10 gene on chromosome 16q24. https://pubmed.ncbi.nlm.nih.gov/28886341/ |
| Xrefs | |
| SKOS |
exactMatch ORDO:720326 exactMatch GARD:0025894 exactMatch MIM:617694 exactMatch UMLS_CUI:C4540156 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |