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| Holoprosencephaly - NOT chromosomal v4.7 | ISCA-46743-Loss | Arina Puzriakova reviewed Region: ISCA-46743-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v4.7 | ISCA-46743-Loss | Arina Puzriakova Publications for Region: ISCA-46743-Loss were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v4.6 | ISCA-46743-Loss |
Arina Puzriakova Region: ISCA-46743-Loss was added Region: ISCA-46743-Loss was added to Holoprosencephaly - NOT chromosomal. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46743-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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