Microphthalmia, isolated, with coloboma 6
- Synonyms
- MICROPHTHALMIA/COLOBOMA 6; Microphthalmia with coloboma 6; Microphthalmia with coloboma 6, digenic
Available tests
25 tests are in the database for this condition.
Clinical tests (25 available)
Clinical features
Help- Abnormality of the eye
- Bilateral microphthalmos
Bilateral microphthalmos
- MedGen UID: 334420
- Concept ID: C1843496
- Finding: Congenital Abnormality
Abnormality of the eye
- Congenital ocular coloboma
Congenital ocular coloboma
- MedGen UID: 1046
- Concept ID: C0009363
- Finding: Congenital Abnormality
Abnormality of the eye
- Foveal hypoplasia
Foveal hypoplasia
- MedGen UID: 393047
- Concept ID: C2673946
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic disc hypoplasia
Optic disc hypoplasia
- MedGen UID: 224879
- Concept ID: C1298695
- Finding: Finding
Abnormality of the eye
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Bilateral microphthalmos
- Abnormality of the musculoskeletal system
- Abnormal temporal bone morphology
Abnormal temporal bone morphology
- MedGen UID: 869735
- Concept ID: C4024163
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Abnormal temporal bone morphology
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.