Complex cortical dysplasia with other brain malformations 4
Summary
Available tests
Clinical tests (23 available)
Clinical features
Help- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
- Abnormality of the nervous system
- Agyria
Agyria
- MedGen UID: 361827
- Concept ID: C1879312
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Infantile spasms
Infantile spasms
- MedGen UID: 854616
- Concept ID: C3887898
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Pachygyria
Pachygyria
- MedGen UID: 504794
- Concept ID: CN001193
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spastic tetraplegia
Spastic tetraplegia
- MedGen UID: 98433
- Concept ID: C0426970
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Subcortical band heterotopia
Subcortical band heterotopia
- MedGen UID: 336288
- Concept ID: C1848201
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Thick corpus callosum
Thick corpus callosum
- MedGen UID: 371993
- Concept ID: C1835194
- Finding: Finding
Abnormality of the nervous system
- Thin corpus callosum
Thin corpus callosum
- MedGen UID: 1785336
- Concept ID: C5441562
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Agyria
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.