Search Ontology:
Human Disease

Arboleda-Tham syndrome

Term ID
DOID:0070062
Synonyms
  • ARTHS
  • autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
  • autosomal dominant mental retardation 32
  • autosomal dominant non-syndromic intellectual disability 32
  • MRD32
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. https://www.ncbi.nlm.nih.gov/pubmed/25728775
References
Ontology
Human Disease   ( DOID:0070062 )
Relationships
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Other Pages
Genes Involved
Zebrafish Models