Activity
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| Monogenic short stature v0.154 | SMC1A | Arina Puzriakova Entity copied from Growth failure in early childhood v3.83 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.154 | SMC1A |
Arina Puzriakova gene: SMC1A was added gene: SMC1A was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 |
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