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Items: 1 to 20 of 33

1.

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
2.

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
3.

Congenital cerebellar hypoplasia

Underdevelopment of the cerebellum. [from HPO]

MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
4.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
5.

Agenesis

A congenital abnormality resulting in the absence of an anatomical structure. (NCI) [from NCI_CDISC]

MedGen UID:
7816
Concept ID:
C0000846
Congenital Abnormality; Functional Concept
6.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
7.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
8.

Lissencephaly with cerebellar hypoplasia

MedGen UID:
833446
Concept ID:
CN229188
Finding
9.

Hypoplasia

Incomplete or arrested development of an organ or a part [from CHV]

MedGen UID:
537146
Concept ID:
C0243069
Pathologic Function
10.

Cerebellar hypoplasia

Underdevelopment of the cerebellum. [from HPO]

MedGen UID:
504799
Concept ID:
CN001210
Finding
11.

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
12.

Agenesis of corpus callosum

MedGen UID:
373288
Concept ID:
C1837248
13.

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
14.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
15.

Langerhans cell histiocytosis, multifocal

Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the dysregulated proliferation of Langerhans cells and subsequent organ infiltration. Clinical manifestations range from a spontaneously healing isolated osteolytic lesion to a lymphoma-like syndrome with fatal multiorgan failure, in the absence of any cellular evidence of malignancy. Although the disease can present at any age, the peak age at diagnosis is between 1 and 3 years (summary by Arico et al., 1999). Egeler and D'Angio (1995) presented a classification of histiocytosis syndromes in children: class I, Langerhans cell histiocytosis (LCH); class II, histiocytosis of mononuclear macrophages other than Langerhans cells, including familial hemophagocytic lymphohistiocytosis (267700); and class III, malignant histiocytic disorders, including histiocytic lymphoma. [from OMIM]

MedGen UID:
5568
Concept ID:
C0019621
Neoplastic Process
16.

Malformation of cortical development

Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay. [from MeSH]

MedGen UID:
364975
Concept ID:
C1955869
Disease or Syndrome
17.

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
18.

Abnormality of neuronal migration

Cortical malformations secondary to abnormal neuronal CELL MIGRATION in NEUROGENESIS. This group includes COBBLESTONE LISSENCEPHALY and PERIVENTRICULAR NODULAR HETEROTOPIA. [from MeSH]

MedGen UID:
324748
Concept ID:
C1837249
Congenital Abnormality
19.

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
20.

Abnormality of the nervous system

Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis. [from MeSH]

MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
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