OBO ID: DOID:0060810
Term Name: syndromic X-linked intellectual disability type 10 Search Ontology:
Synonyms:
  • HSD10 deficiency, atypical type
  • HSD10 disease, atypical type
  • mental retardation, X-linked syndromic 10
  • MRXS10
  • X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
Definition: A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (2)
References:
Ontology: Human Disease   ( DOID:0060810 )
Relationships
is a type of:
OTHER syndromic X-linked intellectual disability type 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HSD17B10 HSD10 mitochondrial disease 300438
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.