Al Kaissi syndrome

Term ID

DOID:0070738

Synonyms

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/

References

• GARD:0025894
• MIM:617694
• ORDO:720326
• UMLS_CUI:C4540156

Ontology

Human Disease   ( DOID:0070738 )