Synonym(s): - Cataract - microphthalmia - radiculomegaly - septal heart defect - OFCD syndrome
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare odontologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant		External references: 1 OMIM reference - See 2 MeSH references: C537465 / C537735
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
BCOR	Q6W2J9	300485

- Anomalies of teeth and dentition
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Bifid tip / cleft nose / supernumerary nose
- Cardiac septal defect
- Cataract / lens opacification
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Microcornea
- X-linked dominant inheritance

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anodontia / oligodontia / hypodontia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes
- High nasal bridge
- High vaulted / narrow palate
- Long philtrum
- Narrow face
- Radioulnar synostosis
- Syndactyly of toes

- Anomalies of ear and hearing
- Clinodactyly of fifth finger
- Coloboma of iris
- Cubitus valgus
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Genu valgum
- Glaucoma
- Hearing loss / hypoacusia / deafness
- High arched eyebrows
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intestinal / gut / bowel malrotation
- Lens dislocation / luxation / subluxation / ectopia lentis
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Ptosis
- Pulmonary valve atresia / stenosis / narrowing
- Retinal detachment
- Scoliosis
- Sensorineural deafness / hearing loss
- Solitary median incisor
- Thumb hypoplasia / aplasia / absence