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| Cerebral Palsy v1.106 | MCOLN1 | Zornitza Stark Marked gene: MCOLN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.106 | MCOLN1 | Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.106 | MCOLN1 | Zornitza Stark Classified gene: MCOLN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.106 | MCOLN1 | Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | MCOLN1 |
Luisa Weiss gene: MCOLN1 was added gene: MCOLN1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 12182165; 21763169 Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV MIM#252650 Review for gene: MCOLN1 was set to GREEN Added comment: PMID 12182165 presents a case study of 28 patients with Mucolipidosis Type IV. A significant clinical overlap with CP-like encephalopathy is discussed and some of the patients are reported to present with a 'pure non-progressive neurologic deficit'. Other Mucolipidosis Type IV overviews (PMID 21763169) also discuss the clinical similarities and the phenotypic overlap between MLIV and CP. Sources: Literature |
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