Differences of Sex Development
Gene: MCM5
Only single patient reported in 2017. Patient presented with microstomia, thick lips, micrognathia, bilateral microtia, low set ears and bilateral cryptorchidism.
Sources: Expert ReviewCreated: 15 Jul 2020, 12:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Meier-Gorlin syndrome 8 (MIM#617564)
Publications
Gene: mcm5 has been classified as Red List (Low Evidence).
Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)
Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)
Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)
Gene: mcm5 has been classified as Red List (Low Evidence).
gene: MCM5 was added gene: MCM5 was added to Disorders of Sex Differentiation. Sources: Expert Review Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM5 were set to 28198391 Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8 (MIM#617564) Review for gene: MCM5 was set to RED