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1.

Macrocephaly

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014). [from OMIM]

MedGen UID:
65141
Concept ID:
C0221355
Congenital Abnormality; Finding
2.

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
3.

Delay

MedGen UID:
879911
Concept ID:
CN235300
Finding
4.

Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. [from HPO]

MedGen UID:
745757
Concept ID:
C2243051
Finding; Finding
5.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
6.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
7.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
107838
Concept ID:
C0557874
Finding; Finding
8.

Developmental delay

Failure to meet, or late achievement of developmental milestones. [from NCI]

MedGen UID:
98410
Concept ID:
C0424605
Mental or Behavioral Dysfunction
9.

Generalized epilepsy

Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14) [from MeSH]

MedGen UID:
4507
Concept ID:
C0014548
Disease or Syndrome
10.

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
Disease or Syndrome
11.

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
12.

Dysmorphic features

MedGen UID:
879698
Concept ID:
CN235126
Disease or Syndrome
13.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
14.

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
15.

Dysmorphic features

MedGen UID:
473141
Concept ID:
C0432072
Congenital Abnormality
16.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
17.

Type 1 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
18.

Short stature

Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual. [from NCI]

MedGen UID:
87607
Concept ID:
C0349588
Finding
19.

Miller Dieker syndrome

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:
78538
Concept ID:
C0265219
Disease or Syndrome
20.

Megalencephaly

Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by Petersson et al., 1999). [from OMIM]

MedGen UID:
439426
Concept ID:
C2720434
Congenital Abnormality
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