RCBTB1-related retinopathy
- Synonyms
- Retinal dystrophy with or without extraocular anomalies
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (7 available)
Clinical features
Help- Abnormality of the endocrine system
- Goiter
Goiter
- MedGen UID: 42270
- Concept ID: C0018021
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Goiter
- Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Retinal dystrophy
Retinal dystrophy
- MedGen UID: 208903
- Concept ID: C0854723
- Finding: Finding
Abnormality of the eye
- Reduced visual acuity
- Abnormality of the genitourinary system
- Premature ovarian insufficiency
Premature ovarian insufficiency
- MedGen UID: 9963
- Concept ID: C0025322
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Secondary amenorrhea
Secondary amenorrhea
- MedGen UID: 115919
- Concept ID: C0232940
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Premature ovarian insufficiency
- Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, mild
- Abnormality of the respiratory system
- Pulmonary fibrosis
Pulmonary fibrosis
- MedGen UID: 11028
- Concept ID: C0034069
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Pulmonary fibrosis
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