From HPO
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Nocturnal seizures- MedGen UID:
- 581539
- •Concept ID:
- C0393719
- •
- Disease or Syndrome
Seizures that occur while the affected individual is sleeping.
Hemimegalencephaly- MedGen UID:
- 140910
- •Concept ID:
- C0431391
- •
- Finding
Enlargement of all or parts of one cerebral hemisphere.
Autistic behavior- MedGen UID:
- 163547
- •Concept ID:
- C0856975
- •
- Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Isolated focal cortical dysplasia type II- MedGen UID:
- 339510
- •Concept ID:
- C1846385
- •
- Congenital Abnormality
Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).
Focal cortical dysplasia- MedGen UID:
- 853938
- •Concept ID:
- C2938983
- •
- Congenital Abnormality
A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Focal cortical dysplasia, type IIA- MedGen UID:
- 1384182
- •Concept ID:
- C4478700
- •
- Disease or Syndrome
A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.
Focal cortical dysplasia type I- MedGen UID:
- 1670970
- •Concept ID:
- C4732821
- •
- Congenital Abnormality
A type of focal cortical dysplasia that is characterized by abnormal cortical layering.
- Abnormality of the nervous system