All individuals with variants in gene MKRN9P

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00397684 1 PubMed: Molin 2013 - F - - - - - - - retinal disease aborted spontaneously at 21.5 weeks of gestation; fetal pathological examination: eutrophic female fetus with facial dysmorphism (slight hypertelorism and dolichocephaly) and a small occipital meningoencephalocele; bilateral renal cysts characteristic of MKS at histology and mild hepatic ductal dysplasia; occipital meningoencephalocele and hydrocephalus in association with extreme cerebellar vermis hypoplasia and brainstem anomalies (“molar tooth” appearance of the cerebral and superior cerebellar peduncles, fragmented dentate nucleus, asymmetric anomalies of corticospinal tracts, hypoplastic inferior oli 1 1 LOVD
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