loading...| Preferred Name | ocular motor apraxia, Cogan type | |
| Synonyms |
saccade initiation failure, congenital congenital oculomotor apraxia saccade initiation failure congenital Cogan's syndrome type 2 COMA ocular motor apraxia oculomotor apraxia Cogan type Cogan syndrome type 2 oculomotor apraxia, Cogan type oculomotor apraxia, congenital, Cogan-type |
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| Definitions |
Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009764 |
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| altLabel |
saccade initiation failure, congenital congenital oculomotor apraxia saccade initiation failure congenital Cogan's syndrome type 2 COMA ocular motor apraxia oculomotor apraxia Cogan type Cogan syndrome type 2 oculomotor apraxia, Cogan type oculomotor apraxia, congenital, Cogan-type |
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| definition |
Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. |
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| has_exact_synonym |
oculomotor apraxia, Cogan type oculomotor apraxia, congenital, Cogan-type |
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| has_related_synonym |
saccade initiation failure, congenital congenital oculomotor apraxia saccade initiation failure congenital Cogan's syndrome type 2 COMA ocular motor apraxia oculomotor apraxia Cogan type Cogan syndrome type 2 |
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| IAO_0000233 | ||
| label |
ocular motor apraxia, Cogan type |
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| prefixIRI |
MONDO:0009764 |
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| prefLabel |
ocular motor apraxia, Cogan type |
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| textual definition |
Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. |
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| subClassOf |