OBO ID: DOID:0081072
Term Name: craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Search Ontology:
Synonyms:
  • Cerebro-facio-thoracic dysplasia
  • Cerebrofaciothoracic dysplasia
  • Pascual-Castroviejo syndrome
  • TMCO1 defect syndrome
Definition: A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. (4)
References:
Ontology: Human Disease   ( DOID:0081072 )
OTHER craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None