Osteogenesis imperfecta type 12
- Synonyms
- OI, TYPE XII; Osteogenesis imperfecta, type XII; SP7-Related Osteogenesis Imperfecta
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (43 available)
Clinical features
Help- Abnormality of head or neck
- Delayed eruption of teeth
Delayed eruption of teeth
- MedGen UID: 68678
- Concept ID: C0239174
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Facial asymmetry
Facial asymmetry
- MedGen UID: 266298
- Concept ID: C1306710
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- Finding: Finding
Abnormality of head or neck
- Prominent supraorbital ridges
Prominent supraorbital ridges
- MedGen UID: 333982
- Concept ID: C1842060
- Finding: Finding
Abnormality of head or neck
- Delayed eruption of teeth
- Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
Abnormal cardiovascular system morphology
- MedGen UID: 892473
- Concept ID: C4049796
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
- Abnormality of the eye
- Abnormal sclera morphology
Abnormal sclera morphology
- MedGen UID: 871347
- Concept ID: C4025840
- Finding: Anatomical Abnormality
Abnormality of the eye
- Blue sclerae
Blue sclerae
- MedGen UID: 154236
- Concept ID: C0542514
- Finding: Finding
Abnormality of the eye
- Abnormal sclera morphology
- Abnormality of the musculoskeletal system
- Bowing of the arm
Bowing of the arm
- MedGen UID: 488899
- Concept ID: C0426863
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the legs
Bowing of the legs
- MedGen UID: 1807399
- Concept ID: C5574706
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the long bones
Bowing of the long bones
- MedGen UID: 340849
- Concept ID: C1855340
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Brachyturricephaly
Brachyturricephaly
- MedGen UID: 387833
- Concept ID: C1857484
- Finding: Finding
Abnormality of the musculoskeletal system
- Dentinogenesis imperfecta
Dentinogenesis imperfecta
- MedGen UID: 8313
- Concept ID: C0011436
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Generalized osteoporosis
Generalized osteoporosis
- MedGen UID: 1639139
- Concept ID: C4551680
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hyperextensibility of the finger joints
Hyperextensibility of the finger joints
- MedGen UID: 334982
- Concept ID: C1844577
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypermobility of interphalangeal joints
Hypermobility of interphalangeal joints
- MedGen UID: 870718
- Concept ID: C4025172
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Osteoporosis
Osteoporosis
- MedGen UID: 14535
- Concept ID: C0029456
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Pectus carinatum
Pectus carinatum
- MedGen UID: 57643
- Concept ID: C0158731
- Finding: Finding
Abnormality of the musculoskeletal system
- Recurrent fractures
Recurrent fractures
- MedGen UID: 42094
- Concept ID: C0016655
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Wormian bones
Wormian bones
- MedGen UID: 766814
- Concept ID: C3553900
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Bowing of the arm
- Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Motor delay
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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