eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | agenesis of corpus callosum |
| Comorbidity | C0020255|hydrocephalus |
| Sentences | 4 |
| PubMedID- 23820807 | Seventy-nine cases had no l1cam mutations; these were subdivided into four groups: (1) hydrocephalus sometimes associated with corpus callosum agenesis (44 %); (2) atresia/forking of the aqueduct of sylvius/rhombencephalosynapsis spectrum (27 %); (3) syndromic hydrocephalus (9 %), and (4) phenocopies with no mutations in the l1cam gene (20 %) and in whom family history strongly suggested an autosomal recessive mode of transmission. |
| PubMedID- 24881613 | Transfrontal neuro-ultrasound disclosed hydrocephalus and agenesis of corpus callosum [fig. |
| PubMedID- 20976158 | Constitutively l1-deficient mice display severe brain malformations, in particular hydrocephalus and agenesis of the corpus callosum [1], [2]. |
| PubMedID- 20554659 | Four months: long-standing hydrocephalus7 df390(am)nothing abnormal detected2 df4.272(lon)neonatal: agenesis of corpus callosum, neuronal heterotopias, cerebellar hypoplasia; subependymal grey matter heterotopia at temperal horn tips.<24 hf542(lon)nothing abnormal detected9 weeksh1a28(am) (2 years); 35(lon) (6 years)hydrocephalus at 7 months12 hr3a,b28(am)4 years: borderline normal with a minimal lack of white matter bulkno seizurescf821(lon)neonatal: normal. |
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