Activity
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5 actions
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| Cerebral Palsy v1.333 | OPHN1 | Zornitza Stark Marked gene: OPHN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.333 | OPHN1 | Zornitza Stark Gene: ophn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.333 | OPHN1 | Zornitza Stark Classified gene: OPHN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.333 | OPHN1 | Zornitza Stark Gene: ophn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.315 | OPHN1 |
Clare van Eyk gene: OPHN1 was added gene: OPHN1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OPHN1 were set to PMID: 38693247 Phenotypes for gene: OPHN1 were set to Intellectual developmental disorder, X-linked syndromic, Billuart type, MIM#300486 Review for gene: OPHN1 was set to RED Added comment: 1 male with hemizygous variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MRXSBL is associated with generalized hypotonia and delayed psychomotor development from infancy, with some individuals developing ataxia associated with cerebellar hypoplasia. Sources: Literature |
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