All individuals with variants in gene MAN2C1

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     
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00231412 Fam4527 PubMed: Cox 2019 4-generation family, 6 affected (3F, 3M) F;M - United States - - - - - CLP vertebral hyper segmentation (HP:0003422), rib hyper segmentation (HP:0006655) 1 6 Timothy Cox
00399542 Fam1-PatIII1 PubMed: Maia 2022 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Portugal - - - - - NDD no macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; congenital pelvicalyceal dilatation; no intellectual disability; motor impairment (fundamental motor skill); language impairment; behavioral problems; poor social interaction; no epilepsy 2 2 Johan den Dunnen
00399543 Fam1-PatIII2 PubMed: Maia 2022 sister F - Portugal - - - - - NDD macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; mild intellectual disability; motor impairment; language impairment; behavioral problems; poor social interaction; no epilepsy; MRI brain 5y-no polymicrogyria, no heterotopia , no ventriculomegaly , no callosal anomalies , no hypothalamic hamartoma, no interhemispheric cysts, no cavum vergae, no malrotated hippocampus, no brainstem hypoplasia, no cerebellar hypoplasia, vermis hypoplasia 2 1 Johan den Dunnen
00399544 Fam2-GEF16/274 PubMed: Maia 2022 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents F - France - - - - - NDD no macrocephaly; micro/retrognathia; dysmorphic features; tongue hamartoma; MRI brain 26 2/7gw-no polymicrogyria, heterotopia, ventriculomegaly, partial agenesis corpus callosum, hypothalamic hamartoma, no interhemispheric cysts, no cavum vergae, brainstem hypoplasia (z-shaped), cerebellar hypoplasia, vermis hypoplasia 2 2 Johan den Dunnen
00399545 Fam2-GEF17/561 PubMed: Maia 2022 2nd fetus M - France - - - - - NDD no macrocephaly; no micro/retrognathia; dysmorphic features; tongue hamartoma; congenital cleft palate, moderate ureteral dilatation; MRI brain 29 4/7gw-polymicrogyria, heterotopia, ventriculomegaly, partial agenesis corpus callosum, hypothalamic hamartoma, no interhemispheric cysts, no cavum vergae, no cerebellar hypoplasia, vermis hypoplasia 2 1 Johan den Dunnen
00399546 Fam3-D16.0510 PubMed: Maia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Morocco - - - - - NDD macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; congenital strabismus; moderate intellectual disability; motor impairment; language impairment; behavioral problems childhood; no poor social interaction; no epilepsy; MRI brain 7y-polymicrogyria, no heterotopia , ventriculomegaly, agenesis corpus callosum, no hypothalamic hamartoma, interhemispheric cysts, no cavum vergae, malrotated hippocampus, brainstem hypoplasia, cerebellar hypoplasia, vermis hypoplasia (inferior) 1 1 Johan den Dunnen
00399547 Fam4-PS4501 PubMed: Maia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - American - - - - NDD no macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; congenital slightly enlarged tongue, joint abnormalities, phimosis; intellectual disability; motor impairment; language impairment; poor social interaction; MRI brain 1m-polymicrogyria, no heterotopia , no ventriculomegaly , callosal anomalies (thin), no hypothalamic hamartoma, no interhemispheric cysts, cavum vergae, no brainstem hypoplasia, no cerebellar hypoplasia, no vermis hypoplasia 2 1 Johan den Dunnen
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