Defects in TMCO1 are the cause of craniofacial dysmorphism skeletal anomalies and mental retardation syndrome (CFSMR) [MIM:614132]. A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies.
| Predicate | Object |
|---|---|
| rdf:type | |
| rdfs:comment |
Defects in TMCO1 are the cause of craniofacial dysmorphism skeletal anomalies and mental retardation syndrome (CFSMR) [MIM:614132]. A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies.
|