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Items: 1 to 20 of 27

1.

Subcortical band heterotopia

A developmental brain abnormality characterized by atypical migration of neurons during cortical development. [from NCI]

MedGen UID:
336288
Concept ID:
C1848201
Disease or Syndrome
2.

Seizure Disorders

A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. [from NCI]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
3.

BAND HETEROTOPIA

MedGen UID:
924885
Concept ID:
C4284594
Disease or Syndrome
4.

Mosaicism

The presence of more than one genetically distinct cell line in germ and/or somatic cells. [from NCI]

MedGen UID:
452472
Concept ID:
C0392053
Cell or Molecular Dysfunction
5.

Somatic mosaicism

The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. [from HPO]

MedGen UID:
356183
Concept ID:
C1866227
Finding
6.

Band heterotopia

MedGen UID:
333046
Concept ID:
C1838239
Disease or Syndrome
7.

Heterotopia

A mass of histologically normal tissue present in an abnormal location. [from MeSH]

MedGen UID:
40280
Concept ID:
C0008519
Pathologic Function
8.

Seizures

Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." [from MeSH]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
9.

Lissencephaly

A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure. [from HPO]

MedGen UID:
78604
Concept ID:
C0266463
Congenital Abnormality; Finding
10.

Much

A subjective response indicating that something is or was a large amount. [from NCI]

MedGen UID:
923949
Concept ID:
C4281574
Finding
11.

Usually

A response indicating that something happens or happened most of the time. [from NCI]

MedGen UID:
854883
Concept ID:
C3888388
Finding
12.

Lissencephaly

A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure. [from HPO]

MedGen UID:
504808
Concept ID:
CN001227
Finding
13.

Mild

Gentle or temperate in nature or degree. [from NCI]

MedGen UID:
422477
Concept ID:
C2945599
Qualitative Concept
14.

Subcortical Band Heterotopia, X-Linked

MedGen UID:
336287
Concept ID:
C1848200
Disease or Syndrome
15.

Lissencephaly, X-linked

DCX-related disorders include the neuronal migration disorders classic lissencephaly (formerly also known as lissencephaly type 1), usually in males; and subcortical band heterotopia (SBH, also called double cortex), primarily in females. Males with classic DCX-related lissencephaly typically have severe and global developmental delay, infantile-onset seizures (infantile spasms, West syndrome, focal and generalized seizures), and severe intellectual disability. In individuals with SBH, cognitive abilities range from normal to learning disabilities and/or severe intellectual disability. The majority of individuals with SBH present with focal or generalized seizures. Behavior problems may also be observed. In DCX-related lissencephaly and SBH the severity of the clinical manifestation correlates with the degree of the underlying brain malformation. [from GTR]

MedGen UID:
336286
Concept ID:
C1848199
Disease or Syndrome
16.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
334384
Concept ID:
C1843367
Finding
17.

Intellectual disability, mild

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. [from HPO]

MedGen UID:
10044
Concept ID:
C0026106
Finding; Mental or Behavioral Dysfunction
18.

Intellectual functioning disability

A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. [from NCI]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
19.

Pathological Conditions, Anatomical

An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases. [from MeSH]

MedGen UID:
155708
Concept ID:
C0752135
Pathologic Function
20.

Auras

Subjective ictal phenomena that, in a given patient, may precede observable seizures; if alone, constitute a if alone, constitute a simple partial seizure. [from HPO]

MedGen UID:
65921
Concept ID:
C0236018
Finding
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