Search Ontology:
Human Disease

craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome

Term ID
DOID:0081072
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 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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