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Items: 18

1.

Genetic anticipation

A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next. [from HPO]

MedGen UID:
109454
Concept ID:
C0600498
Organism Attribute
2.

Prepared

MedGen UID:
881385
Concept ID:
C4082130
Finding
3.

Infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. [from ORDO]

MedGen UID:
831067
Concept ID:
CN204472
Disease or Syndrome
4.

Offered

MedGen UID:
731829
Concept ID:
C1444648
Finding
5.

Adult onset

Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [from HPO]

MedGen UID:
342909
Concept ID:
C1853562
Finding
6.

Positive

Involving advantage or good. [from NCI]

MedGen UID:
254858
Concept ID:
C1446409
Finding
7.

Difficulty

Something not easily done, accomplished, comprehended, or solved. [from NCI]

MedGen UID:
226969
Concept ID:
C1299586
Finding
8.

Emotional

Excessively affected by emotion. [from NCI]

MedGen UID:
167260
Concept ID:
C0849912
Finding
9.

Ability to balance

The maintenance of a stable, upright body position. [from NCI]

MedGen UID:
154340
Concept ID:
C0560184
Finding
10.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
11.

Infantile neuroaxonal dystrophy

PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability. [from GTR]

MedGen UID:
82852
Concept ID:
C0270724
Disease or Syndrome
12.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
13.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
14.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
15.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
16.

Has teenage father

MedGen UID:
667372
Concept ID:
C0584973
Finding
17.

Seen by pediatrician

MedGen UID:
666000
Concept ID:
C0583542
Finding
18.

Offered child surveillance

MedGen UID:
601161
Concept ID:
C0421504
Finding
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