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craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Summary
- Synonym
-
- 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.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0081072
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
