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1.

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 GeneReviews]

MedGen UID:
336286
Concept ID:
C1848199
Disease or Syndrome
2.

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
3.

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
4.

Severity

The intensity or degree of a manifestation. [from HPO]

MedGen UID:
101096
Concept ID:
C0522510
Qualitative Concept
5.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
6.

Lissencephaly 2, X-linked

X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). [from OMIM]

MedGen UID:
375832
Concept ID:
C1846171
Disease or Syndrome
7.

Agyria

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

MedGen UID:
361827
Concept ID:
C1879312
Congenital Abnormality; Disease or Syndrome
8.

Subcortical band heterotopia

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

MedGen UID:
336288
Concept ID:
C1848201
Disease or Syndrome
9.

Macrogyria

Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum. [from HPO]

MedGen UID:
120579
Concept ID:
C0266483
Congenital Abnormality
10.

Seizure Disorders

Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
11.

BAND HETEROTOPIA

MedGen UID:
924885
Concept ID:
C4284594
Disease or Syndrome
12.

refractory epilepsy

MedGen UID:
893194
Concept ID:
CN238689
Finding
13.

Severe cognitive impairment

MedGen UID:
767553
Concept ID:
C3554639
Finding
14.

Pachygyria

A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex. [from HPO]

MedGen UID:
504794
Concept ID:
CN001193
Finding
15.

Lissencephaly 1

LIS1-associated lissencephaly includes Miller-Dieker syndrome (MDS), isolated lissencephaly sequence (ILS), and (rarely) subcortical band heterotopia (SBH). Lissencephaly and SBH are cortical malformations caused by deficient neuronal migration during embryogenesis. Lissencephaly refers to a "smooth brain" with absent gyri (agyria) or abnormally wide gyri (pachygyria). SBH refers to a band of heterotopic gray matter located just beneath the cortex and separated from it by a thin zone of normal white matter. MDS is characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. ILS is characterized by lissencephaly and its direct sequelae: developmental delay, intellectual disability, and seizures. [from GeneReviews]

MedGen UID:
375318
Concept ID:
C1843916
16.

intractable epilepsy

Epileptic condition in which adequate trials of two tolerated and appropriately chosen and used ANTIEPILEPTIC DRUGS schedules to achieve sustained seizure freedom failed. [from MeSH]

MedGen UID:
203330
Concept ID:
C1096063
Disease or Syndrome
17.

Impairment

Loss or abnormality of psychological, physiological, or anatomic structure or function. [from NCI]

MedGen UID:
151925
Concept ID:
C0684336
Finding; Pathologic Function
18.

Cognitive impairment

Abnormality in the process of thought including the ability to process information. [from HPO]

MedGen UID:
151917
Concept ID:
C0683322
Mental or Behavioral Dysfunction
19.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
20.

Type I lissencephaly

A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation. [from NCI]

MedGen UID:
98463
Concept ID:
C0431375
Congenital Abnormality; Disease or Syndrome
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