eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cerebellar hypoplasia |
| Comorbidity | C0025362|mental retardation |
| Sentences | 2 |
| PubMedID- 25668033 | Dysequilibrium syndrome is a genetically heterogenous disorder, which is generally characterized by a congenital onset of autosomal recessive nonprogressive cerebellar ataxia, delayed ambulation, disturbed equilibrium and mental retardation, associated with cerebellar hypoplasia with or without quadrupedal locomotion. |
| PubMedID- 23416624 | Ophn1 is involved in x-linked mental retardation (xlmr) with cerebellar hypoplasia and encodes a rho-gtpase-activating protein called oligophrenin-1, which is produced throughout the developing mouse brain and in the hippocampus and purkinje cells of the cerebellum in adult mice. |
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