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Childhood-onset neurodegeneration with brain atrophy


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Other Names:
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder; CONDBA

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 44 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal pyramidal sign 0007256
Abnormality of extrapyramidal motor function 0002071
Cerebral atrophy
Degeneration of cerebrum
0002059
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
0002376
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Hyperintensity of cerebral white matter on MRI 0030890
30%-79% of people have these symptoms
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
0001344
Dysphasia 0002357
Dystonia 0001332
EEG abnormality 0002353
Gait ataxia
Inability to coordinate movements when walking
0002066
Global developmental delay 0001263
Inability to walk 0002540
Intellectual disability, profound
IQ less than 20
0002187
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
0010864
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Seizure 0001250
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
5%-29% of people have these symptoms
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
0000718
Autistic behavior 0000729
Chorea 0002072
Gastrostomy tube feeding in infancy 0011471
Hyperactivity
More active than typical
0000752
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Impaired pain sensation
Decreased pain sensation
0007328
Impulsivity
Impulsive
0100710
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Kyphosis
Hunched back
Round back
[ more ]
0002808
Limb hypertonia
Increased muscle tone of arm or leg
0002509
Pectus carinatum
Pigeon chest
0000768
Ventriculomegaly 0002119
1%-4% of people have these symptoms
Ataxia 0001251
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Axonal loss 0003447
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Decreased body weight
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
0004325
Feeding difficulties
Feeding problems
Poor feeding
[ more ]
0011968
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
0001268
Neurodegeneration
Ongoing loss of nerve cells
0002180
Parkinsonism 0001300
Peripheral demyelination 0011096
Rigidity
Muscle rigidity
0002063
Showing of 44 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
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You can help advance rare disease research!
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