Total 70 clinical symptoms reported for Angelman syndrome
| Ataxia |
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Synonyms:Cerebellar ataxia |
Very frequent |
| Autistic behavior |
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Synonyms:ASD; Pervasive developmental disorder |
Very frequent |
| Behavioral abnormality |
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Synonyms:Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral/psychiatric abnormalities; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances |
Very frequent |
| Broad-based gait |
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Synonyms:Broad based gait; Wide based gait; Wide based walk; Wide-based gait |
Very frequent |
| Cerebral cortical atrophy |
Atrophy of the cortex of the cerebrum.
Synonyms:Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells |
Very frequent |
| Delayed speech and language development |
A degree of language development that is significantly below the norm for a child of a specified age.
Synonyms:Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay |
Very frequent |
| Hyperactivity |
Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
Synonyms:Hyperactive behavior; More active than typical |
Very frequent |
| Inappropriate laughter |
Synonyms:Inappropriate laughter |
Very frequent |
| Intellectual disability, severe |
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Synonyms:Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation |
Very frequent |
| Microcephaly |
Head circumference below 2 standard deviations below the mean for age and gender.
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small calvarium; small cranium; Small head circumference |
Very frequent |
| Motor delay |
A type of Developmental delay characterized by a delay in acquiring motor skills.
Synonyms:Delay in motor development; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development |
Very frequent |
| Neurological speech impairment |
Synonyms:Speech disorder; Speech impairment; Speech impediment |
Very frequent |
| Poor speech |
Synonyms:Poor speech |
Very frequent |
| Seizure |
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Synonyms:Epileptic seizure; Seizures |
Very frequent |
| Self-injurious behavior |
Aggression towards oneself.
Synonyms:Autoagression; Self injury; Self-harm; Self-injurious behavior; Self-injurious behaviour |
Very frequent |
| Severe global developmental delay |
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Synonyms:Global developmental delay, severe |
Very frequent |
| Sleep disturbance |
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Synonyms:Difficulty sleeping; Sleep disturbances; Sleep dysfunction; Trouble sleeping |
Very frequent |
| Tremor |
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Synonyms:Tremor; Tremors |
Very frequent |