OBO ID: DOID:0112042
Term Name: Tonne-Kalscheuer syndrome Search Ontology:
Synonyms:
  • intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia
  • MRX61
  • TOKAS
  • X-linked mental retardation 61
Definition: A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in RLIM on chromosome Xq13.2. (2)
References:
Ontology: Human Disease   (DOID:0112042)
OTHER Tonne-Kalscheuer syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RLIM Tonne-Kalscheuer syndrome 300978
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None