Craniofacial anomalies and anterior segment dysgenesis syndrome
Available tests
Clinical tests (16 available)
Clinical features
Help- Abnormality of the eye
- Abnormal electroretinogram
Abnormal electroretinogram
- MedGen UID: 96908
- Concept ID: C0476397
- Finding: Finding
Abnormality of the eye
- Anterior segment dysgenesis
Anterior segment dysgenesis
- MedGen UID: 350766
- Concept ID: C1862839
- Finding: Congenital Abnormality
Abnormality of the eye
- Anterior synechiae of the anterior chamber
Anterior synechiae of the anterior chamber
- MedGen UID: 488783
- Concept ID: C0152252
- Finding: Disease or Syndrome
Abnormality of the eye
- Band-shaped keratopathy
Band-shaped keratopathy
- MedGen UID: 56354
- Concept ID: C0155120
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypoplasia of the iris
Hypoplasia of the iris
- MedGen UID: 91029
- Concept ID: C0344539
- Finding: Congenital Abnormality
Abnormality of the eye
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Raised intraocular pressure
Raised intraocular pressure
- MedGen UID: 68606
- Concept ID: C0234708
- Finding: Finding
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Abnormal electroretinogram
- Abnormality of the nervous system
- Headache
Headache
- MedGen UID: 9149
- Concept ID: C0018681
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Nasofrontal encephalocele
Nasofrontal encephalocele
- MedGen UID: 488902
- Concept ID: C0431291
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Posterior fossa cyst
Posterior fossa cyst
- MedGen UID: 341753
- Concept ID: C1857353
- Finding: Finding
Abnormality of the nervous system
- Small pituitary gland
Small pituitary gland
- MedGen UID: 868479
- Concept ID: C4022873
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Headache
- Ear malformation
- Abnormal pinna morphology
Abnormal pinna morphology
- MedGen UID: 167800
- Concept ID: C0857379
- Finding: Congenital Abnormality
Ear malformation
- Severe sensorineural hearing impairment
Severe sensorineural hearing impairment
- MedGen UID: 867175
- Concept ID: C4021533
- Finding: Disease or Syndrome
Ear malformation
- Vertigo
Vertigo
- MedGen UID: 53006
- Concept ID: C0042571
- Finding: Sign or Symptom
Ear malformation
- Abnormal pinna morphology
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