OBO ID: DOID:0060384
Term Name: acrofacial dysostosis, Catania type Search Ontology:
Synonyms:
  • Opitz Mollica Sorge syndrome
  • Opitz-Caltabiano syndrome
Definition: An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type
References:
Ontology: Human Disease   ( DOID:0060384 )
OTHER acrofacial dysostosis, Catania type PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None