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Growth failure in early childhood v3.17 | CDKN1C | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): SRS/BWS;Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies;Beckwith-Wiedemann syndrome, 130650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.17 | CDKN1C | Arina Puzriakova Phenotypes for gene: CDKN1C were changed from SRS/BWS; Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies; Beckwith-Wiedemann syndrome, 130650 to IMAGE syndrome, OMIM:614732 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | CDKN1C | Rebecca Foulger reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | CDKN1C | Ivone Leong reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS/BWS; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.16 | CDKN1C |
Ivone Leong Source Expert list was added to CDKN1C. Added phenotypes SRS/BWS; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C |
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Growth failure in early childhood v0.1 | CDKN1C |
Ellen McDonagh gene: CDKN1C was added gene: CDKN1C was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: CDKN1C were set to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies |