All individuals with variants in gene NXN

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00311850 BAB8841 PubMed: White 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - RRS macrocephaly, no frontal bossing, high forehead, no midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, no wide nasal bridge, no short nose, long philtrum, triangular mouth, gingival hyperplasia, absent uvula, no cleft soft palate, dental anomalies, micrognathia; mesomelia; brachydactyly; clinodactyly; no camptodactyly; broad thumb; no fetal finger/toe pads; broad 1st toe; renal anomalies; cardiac anomalies 1 1 Johan den Dunnen
00311851 BAB9847 PubMed: White 2018 2-generation family, 2 affected sisters F no - - - - - - RRS relative macrocephaly, frontal bossing, high forehead, midface hypoplasia, hypertelorism, no long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, triangular mouth, gingival hyperplasia, no absent uvula, no cleft soft palate, no dental anomalies, micrognathia; mesomelia, improved with age; brachydactyly; clinodactyly; camptodactyly; broad thumb; fetal finger/toe pads; broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies 2 2 Johan den Dunnen
00311852 BAB9844 PubMed: White 2018 - F no - - - - - - RRS relative macrocephaly, frontal bossing, high forehead, midface hypoplasia, hypertelorism, no long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, triangular mouth, gingival hyperplasia, absent uvula, cleft soft palate, micrognathia; mesomelia; brachydactyly; clinodactyly; camptodactyly; broad thumb; fetal finger/toe pads; broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies 2 1 Johan den Dunnen
00394790 BAB10973 PubMed: Zhang 2021 adopted M - United States - - - - - RRS core nervous system anomalies, seizure, facial dysmorphism 2 1 Johan den Dunnen
00438603 HSC0054 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE see paper; ..., global developmental delay, moderate intellectual disability; 5m-seizure; EEG generalized spike-wave, poly-spike and wave; MRI brain delayed myelination, 20y-normal; neonatal hypotonia, scoliosis, intractable seizures until puberty, no seizures under LEV and LTG 1 1 Johan den Dunnen
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