Total 70 clinical symptoms reported for Aicardi-Goutieres syndrome 1
| Arrhinencephaly |
A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.
Synonyms:Arhinencephaly |
Very frequent |
| 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.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
| Hypertonia |
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Synonyms:Hypertonicity; Increased muscle tone |
Very frequent |
| Intellectual disability, profound |
Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
Synonyms:IQ less than 20; Mental retardation, profound; Profound mental retardation |
Very frequent |
| Multifocal cerebral white matter abnormalities |
This section is currently in development.
|
Very frequent |
| Porencephalic cyst |
A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
Synonyms:Cavity within brain |
Very frequent |
| Spasticity |
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Synonyms:Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity |
Very frequent |