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ATAD3A
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Cerebellar Hypoplasia
- Standard Disease Name
- cerebellar hypoplasia
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D006501
- OMIM ID
- MTHU038294
- UMLS ID
- C0019151
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A constellation of signs and symptoms characterized by changes in personality, consciousness, and reflexes, resulting from neuropsychiatric abnormalities secondary to liver failure without evidence of other brain disease.|MSH2017_2016_08_12:A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)|HPO2016_07_04:Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. [HPO:probinson]|CSP2006:syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts; clinical features include lethargy and confusion, frequently progressing to coma, asterixis, nystagmus, brisk oculovestibular reflexes, decorticate and decerebrate posturing, muscle spasticity, and bilateral extensor plantar reflexes.
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