Preferred Name |
Acrocallosal syndrome |
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Synonyms |
Joubert syndrome 12 |
|
Definitions |
(ACLS): A syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and mental retardation.(JBTS12): A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. |
|
ID |
http://purl.obolibrary.org/obo/OMIM_200990 |
|
definition |
(ACLS): A syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and mental retardation.(JBTS12): A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. |
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has_obo_namespace |
cell_cycle_ontology |
|
has_related_synonym |
Joubert syndrome 12 |
|
id |
OMIM:200990 |
|
label |
Acrocallosal syndrome |
|
notation |
OMIM:200990 |
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prefLabel |
Acrocallosal syndrome |
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treeView | ||
subClassOf |