. ^ a b c Caplan, Arthur; McCartney, James; Sisti, Dominic (2004). Health, disease, and illness: concepts in medicine . ... Reprinted in DeBow's Review XI (1851). Available at Google Books and excerpted at PBS.org . ... Reprinted in Arthur L. Caplan, James J. McCartney, Dominic A. Sisti, eds, Health, Disease, and Illness: Concepts in Medicine (Washington, D.C.: Georgetown University Press , 2004) ISBN 1-58901-014-0 External links [ edit ] Wikiquote has quotations related to: Drapetomania An Early History – African American Mental Health Findlay, James A. (2000).

The patients had onset of variable myoclonic seizures in the first decade of life (between 1 and 7 years). ... Molecular Genetics In 5 unrelated patients with DEDSM, Hamdan et al. (2017) identified 2 different de novo heterozygous missense mutations in the DHDDS gene (R37H, 608172.0002 and R211Q, 608172.0003). The mutations were found by whole-exome or whole-genome sequencing of several cohorts of patients with developmental delay and epilepsy. Studies of patient cells and functional studies of the variants were not performed, but Hamdan et al. (2017) postulated a gain-of-function or dominant-negative effect. INHERITANCE - Autosomal dominant GROWTH Height - Short stature (in some patients) MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Global developmental delay - Seizures, multiple types - Myoclonic seizures - EEG abnormalities - Intellectual disability - Speech delay - Involuntary movements - Ataxia - Tremor - Dystonia - Bradykinesia - Rigidity MISCELLANEOUS - Seizure onset in first decade - Variable severity - Seizures tend to be difficult to control - Mutations occur de novo - Five unrelated patients have been reported (last curated January 2018) MOLECULAR BASIS - Caused by mutation in the dehydrodolichyl diphosphate synthase gene (DHDDS, 608172.0002 ) ▲ Close

Inheritance The transmission pattern of FTDALS4 in the families reported by Freischmidt et al. (2015) was consistent with autosomal dominant inheritance and incomplete penetrance. Pottier et al. (2015) reported a deceased patient (case B) showing digenic inheritance of a neurodegenerative disorder: whole-genome sequencing identified heterozygous mutations in the OPTN (602432; G538EfsX27) and TBK1 (R117X) genes. ... Molecular Genetics Cirulli et al. (2015) performed whole-exome sequencing of 2,869 ALS patients and 6,405 controls. ... In affected members from 13 European Caucasian families with FTDALS4, Freischmidt et al. (2015) identified 8 different heterozygous loss-of-function mutations in the TBK1 gene (see, e.g., 604834.0001-604834.0005). Mutations in the first 9 families were found by whole-exome sequencing of 252 patients with ALS, and accounted for about 4% of cases overall. ... In 3 unrelated patients with FTDALS4, Pottier et al. (2015) identified heterozygous missense mutations in the TBK1 gene (see, e.g., 604834.0006 and 604834.0007). The mutations were found by whole-genome sequencing of 107 deceased patients with FTD.

This article is an orphan , as no other articles link to it . Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( March 2017 ) Hypertension and brachydactyly syndrome Other names Brachydactyly-arterial hypertension syndrome This condition is inherited in an autosomal dominant manner. Hypertension and brachydactyly syndrome (HTNB) also known as Bilginturan syndrome and brachydactyly type E among others is a very rare genetic disorder. [1] [2] It was first reported in 1973 by N. Bilginturan et al. [3] [4] The estimated prevalence is less than 1 out of 1,000,000. [2] Contents 1 Symptoms 2 Genetics 3 Treatment 4 References 5 External links Symptoms [ edit ] The disorder is characterized by: severe salt-independent but age-dependent hypertension brachydactyly malformations of the hands and fingers increased fibroblast growth rate neurovascular contact at the rostral-ventrolateral medulla altered baroreflex blood pressure regulation death from stroke before age 50 years when untreated Genetics [ edit ] The disorder is thought to be related to mutations in the PDE3A gene. [1] [5] Treatment [ edit ] This section is empty. ... "PDE3A mutations cause autosomal dominant hypertension with brachydactyly" (PDF) .

Genetically, myotubular myopathy can have two causes: autosomal dominant and autosomal recessive. When caused by a mutation in the DNM2 gene, the disorder is autosomal dominant, meaning it can be passed on by one mutated gene. ... Autosomal recessive onset is most common. [9] Central core disease [ edit ] Central core disease or central core myopathy was first described in 1956 [10] and usually presents in infancy or early childhood as non-progressive mild proximal weakness that persists throughout life. ... S2CID 5490760 . ^ "Congenital Myopathy Information Page" . National Institute of Neurological Disorders and Stroke . ... PMID 8198769 . ^ Chevessier, F; Marty, I; Paturneau-Jouas, M; Hantaı̈, D; Verdière-Sahuqué, M (2004). "Tubular aggregates are from whole sarcoplasmic reticulum origin: Alterations in calcium binding protein expression in mouse skeletal muscle during aging". ... PMID 7436360 . ^ Taratuto, AL; Matteucci, M; Barreiro, C; Saccolitti, M; Sevlever, G (1991). "Autosomal dominant neuromuscular disease with cylindrical spirals".

One such film, Terrifying Girls' High School: Lynch Law Classroom in 1973, would be the first to depict an omorashi scenario to a cinematic audience. ... However, these did not have the erotic context which characterizes modern omorashi media, since they predated the first full-blown anime pornography, which was not available until 1984, when the advent of the first H anime OVAs such as Wonder Kids' Lolita Anime were made possible by the widespread availability of home video . ... In New Zealand for example, creating, trading, distributing (e.g., making available on one's web page ) anything promoting or supporting "the use of urine or excrement in association with degrading or dehumanising conduct or sexual conduct" is a felony punishable by up to ten years in jail. [23] [24] Nonetheless, urination is a common fetish in pornography; the 1915 film A Free Ride , widely considered the first pornographic film made in the US, contains scenes of urination. ... Archived from the original on October 31, 2007 . Retrieved July 4, 2014 . ^ "Google page" . Retrieved September 16, 2014 . ^ "Information about: MAID iN HEAVEN SuperS / めいどいんへぶんすーぱーす" . ... New York: Atria. pp. 115–142 . ISBN 0-671-00957-5 . ^ "World's first incontinence lingerie collection hits the runway" .

Ears and leaves dry up and sometimes look like a mature plant. The whole plant dies and maize cobs remain without kernels. ... To learn how to add open license text to Wikipedia articles, please see this how-to page . For information on reusing text from Wikipedia , please see the terms of use . ... To learn how to add open license text to Wikipedia articles, please see this how-to page . For information on reusing text from Wikipedia , please see the terms of use . ... To learn how to add open license text to Wikipedia articles, please see this how-to page . For information on reusing text from Wikipedia , please see the terms of use . ... To learn how to add open license text to Wikipedia articles, please see this how-to page . For information on reusing text from Wikipedia , please see the terms of use .

Because the maternal allele is not normally expressed, the findings were consistent with a loss of MAGEL2 function. The mutation in the first patient was found by clinical whole-exome sequencing. Based on these results, a research database of 1,248 whole-exome sequencing cases were reviewed, and the 3 remaining cases were identified. In 2 sisters with Schaaf-Yang syndrome, Soden et al. (2014) identified a heterozygous truncating mutation in the MAGEL2 gene (605283.0005). The mutation was found by whole-genome sequencing and apparently resulted from gonadal mosaicism; the mutation was missed by initial whole-exome sequencing. The patients were part of a larger cohort of 100 families with neurodevelopmental disorders who underwent whole-exome or whole-genome sequencing. ... The patients were ascertained based on genotype from whole-exome or direct Sanger sequencing through multiple research-based centers or laboratories.

This article is an orphan , as no other articles link to it . Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( September 2015 ) Tuberculous dactylitis Specialty Infectious disease Tuberculous dactylitis is a skeletal manifestation of tuberculosis , one of the commonest bacterial osteitis . It affects children more often than adults. [1] The first radiological description of the condition is credited to Feilchenfeld in 1896; however, the first histological description was given by Rankin in 1886. [2] The Swedish botanist and fysician Carl von Linne was the first to mention the condition by the name "spina ventosa" 1746 in his "Västgöta resa". [3] Multiple bones are involved in children and usually only a single bone is involved in adults suffering from tuberculous dactylitis. [1] Tuberculous dactylitis affects the short tubular bones of the hands and feet in children. ... Proximal phalanx of the index and middle fingers are the commonest sites of involvement.Up to nearly 7% of children with pulmonary tuberculosis may develop this condition. [8] Spread to the skeletal system is believed to occur via blood and lymphatics. [9] Contents 1 Pathogenesis 2 Diagnosis 3 References 4 External links Pathogenesis [ edit ] In the pediatric age group, the marrow in the phalangeal bones are still active, a conducive place for the tuberculous bacilli to multiply. Slowly, the whole marrow space gets involved and this underlying granulomatous disease leads to expansion of the overlying soft cortex.

A number sign (#) is used with this entry because of evidence that autosomal dominant dyskeratosis congenita-6 (DKCA6) and autosomal recessive dyskeratosis congenita-7 (DKCB7) are caused by heterozygous and compound heterozygous mutation, respectively, in the ACD gene (609377) on chromosome 16q22. ... He was one of identical twin boys; the other twin died at age 4 months from complications of pertussis infection. During the first year of life, the proband was noted to have developmental delay, microcephaly, oral leukoplakia, nail dystrophy, esophageal stenosis, and cerebellar hypoplasia. ... Laboratory studies showed extremely shortened telomeres (much less than first percentile in length). The proband's older sister had no clinical features of DKC, but had very short telomeres. ... Inheritance The transmission pattern of DKCA6 in the family reported by Guo et al. (2014) was consistent with autosomal dominant inheritance. The transmission pattern of DKCB7 in the family reported by Kocak et al. (2014) was consistent with autosomal recessive inheritance. ... Dyskeratosis Congenita 7, Autosomal Recessive In a boy with DKCB7, Kocak et al. (2014) identified compound heterozygous mutations in the ACD gene: K170del and P491T (609377.0002). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing.

Description Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. ... The patients had onset of nystagmus and hypotonia in the first days or weeks of life, but were alive at ages 19, 5, 38, and 26 years, respectively. ... The mutation, which was identified by trio-based whole-exome or whole-genome sequencing, was not found in the dbSNP, ExAC, or gnomAD databases. ... Yan et al. (2018) identified a de novo heterozygous D252N mutation in the TMEM106B gene in a 3-year-old girl of Chinese descent with HLD16. The mutation was found by trio whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but Yan et al. (2018) noted that the mutation occurred at a CpG dinucleotide, suggesting that it is a recurrent mutation due to a hotspot within the gene. INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Nystagmus (horizontal, vertical, rotary) - Saccadic pursuit ABDOMEN Gastrointestinal - Poor feeding (in some patients) MUSCLE, SOFT TISSUES - Hypotonia - Hypertonia NEUROLOGIC Central Nervous System - Delayed development, primarily motor - Intellectual disability (in some patients) - Learning disabilities - Speech delay - Seizures (rare) - Gait ataxia - Wide-based gait - Intention tremor - Dysarthria - Dystonia - Dysmetria - Hyperreflexia - Pyramidal signs, mild - Hypomyelinating leukodystrophy - Thin corpus callosum MISCELLANEOUS - Onset in the first days or weeks of life - Variable severity - Some patients may have normal cognitive development - De novo mutation (in most patients) MOLECULAR BASIS - Caused by mutation in the transmembrane protein 106B gene (TMEM106B, 613413.0001 ) ▲ Close

Description Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. ... All patients had onset of symptoms in the first decade, except for a 46-year-old affected mother who reportedly had onset at age 23 years; her son had onset at age 8 years. ... Inheritance The transmission pattern of DYT28 in 1 of the families reported by Zech et al. (2016) was consistent with autosomal dominant inheritance. Molecular Genetics In 4 unrelated probands with DYT28, Zech et al. (2016) identified 4 different heterozygous loss-of-function mutations in the KMT2B gene (606834.0001-606834.0004). The mutations, which were found by whole-exome sequencing, were confirmed by Sanger sequencing. ... There were 7 frameshift mutations, 2 nonsense mutations, 1 splice site mutation, and 7 missense mutations. The mutations were found by whole-exome or whole-genome sequencing and confirmed by Sanger sequencing.

Clinical Features Wagnon et al. (2018) reported a 3-generation family in which 5 individuals had onset of isolated action-induced nonepileptic myoclonus affecting the upper limb in the first decade. Two patients were examined and the other 3 were reportedly affected with a similar disorder. ... Electrophysiologic studies of 1 patient in the first decade showed evidence of subcortical origin, but not cortical origin. ... Inheritance The transmission pattern of MYOCL2 in the family reported by Wagnon et al. (2018) was consistent with autosomal dominant inheritance. Molecular Genetics In 3 affected members of a family with MYOCL2, Wagnon et al. (2018) identified a heterozygous missense mutation in the SCN8A gene (P1719R; 600702.0012). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family in those who agreed to testing. In vitro functional expression studies in transfected neuron-derived cells showed that the mutation caused a partial loss of function, manifest as decreased inward sodium current compared to controls. INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Myoclonic seizures, isolated - Possible subcortical origin - No dystonia - No seizures MISCELLANEOUS - Onset in the first decade - Nonprogressive disorder - Alcohol may alleviate the symptoms - One family has been reported (last curated March 2019) MOLECULAR BASIS - Caused by mutation in the sodium channel, voltage gated, type VIII, alpha polypeptide gene (SCN8A, 600702.0012 ) ▲ Close

Description Leber congenital amaurosis with early-onset deafness is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. ... Hearing loss in the 5 patients was diagnosed within the first decade of life, and ranged from mild to severe. ... The authors designated the severe and early-onset retinal degeneration seen in these patients to be consistent with advanced Leber congenital amaurosis type 2 (see LCA2, 204100), although they noted that all 5 had high hypermetropia, which was atypical for LCA2. Molecular Genetics By whole-exome sequencing in 3 affected members of a family (family 1) with early-onset retinal degeneration and hearing loss, Luscan et al. (2017) identified heterozygosity for a missense mutation in the TUBB4B gene (R391H; 602660.0001) in the affected mother and son. The maternal grandmother, who had milder symptoms, was found to be mosaic for the mutation, which was present in 29% of reads and had arisen de novo. Analysis of an in-house whole-exome sequencing database identified 3 more probands with LCAEOD and mutations in TUBB4B, 2 with the same R391H mutation, and 1 with an R391C substitution (602660.0002). In 2 of the families, the mutation was shown to have arisen de novo, but in the third family (family 2), the mutation was inherited from an unaffected mosaic father, in whom the variant was present in only 13% of reads. INHERITANCE - Autosomal dominant HEAD & NECK Ears - Sensorineural hearing loss, early-onset - Endocochlear deafness Eyes - Retinal degeneration, early-onset - Reduced visual acuity - High hypermetropia - Retinal vessel attenuation - Generalized choroid atrophy - Macular rearrangements - Peripheral pigmentary deposits - Severely reduced to extinguished responses on electroretinography MISCELLANEOUS - Symptoms occur within the first decade of life - Onset at birth in some patients MOLECULAR BASIS - Caused by mutation in the beta-4B tubulin gene (TUBB4B, 602660.0001 ) ▲ Close

A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-55 with seizures (MRD55) is caused by heterozygous mutation in the NUS1 gene (610463) on chromosome 6q22. Clinical Features Hamdan et al. (2017) reported 3 unrelated patients with onset of myoclonic seizures in the first years of life. The most severely affected patient (indvKW) was an 8-year-old boy with global developmental delay, moderate intellectual disability, speech delay, and ataxic gait. ... She had mild motor delay and could jump and run, but was unable to ride a bicycle. She could speak and read at a first grade level and had mild dysarthria and tremor, but no ataxia. ... Two of the mutations were truncating, and 1 was an intragenic deletion encompassing all of exon 2. Two patients were found by whole-genome sequencing of 197 individuals with developmental epileptic encephalopathy; the third patient was found by clinical exome sequencing from another patient cohort. Functional studies of the variants and studies of patients cells were not performed, but Hamdan et al. (2017) postulated haploinsufficiency as the pathogenic mechanism. INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Delayed development - Intellectual disability, moderate to severe - Language delay - Dysarthria - Ataxic gait - Clumsy - Poor fine motor skills - Tremor - Myoclonic seizures - Seizures, multiple types - EEG abnormalities Behavioral Psychiatric Manifestations - Autism spectrum disorder MISCELLANEOUS - Onset of seizures in first years of life - Seizures tend to be controlled by multiple medications - De novo mutation - Three unrelated patients have been reported (last curated January 2018) MOLECULAR BASIS - Caused by mutation in the nuclear undecaprenyl pyrophosphate synthase 1, S. cerevisiae, homolog of, gene (NUS1, 610463.0002 ) ▲ Close

The patients had hypotonia and variably delayed motor development: 2 patients were nonambulatory at ages 12 and 20 years, whereas the others learned to walk in the first years of life but had an ataxic gait. ... Molecular Genetics In 4 unrelated patients with HADDTS, Beck et al. (2016) identified a de novo heterozygous missense mutation in the CTBP1 gene (R331W; 602618.0001). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. ... Functional studies of the variant and studies of patient cells were not performed, but the authors postulated a dominant-negative effect. The patients were part of a cohort of 5,471 trios containing probands with neurodevelopmental disorders who underwent whole-exome sequencing. INHERITANCE - Autosomal dominant HEAD & NECK Face - Dysmorphic features (in some patients) - Frontal bossing - Retrognathia Eyes - Deep-set eyes Mouth - High-arched palate Teeth - Enamel defects - Soft enamel - Discolored teeth ABDOMEN Gastrointestinal - Feeding difficulties MUSCLE, SOFT TISSUES - Hypotonia - Nonspecific dystrophic changes NEUROLOGIC Central Nervous System - Delayed motor development - Ataxic gait - Inability to walk - Intellectual disability, variable (in some patients) - Speech delay - Cerebellar atrophy (in some patients) MISCELLANEOUS - Variable phenotype - Four unrelated patients have been reported (last curated March 2018) MOLECULAR BASIS - Caused by mutation in the C-terminal-binding protein 1 gene (CTBP1, 602618.0001 ) ▲ Close

As opposed to a forward viewing angle, an extreme downward angle such as this has been shown to markedly increase sickness in virtual environments. [16] Time spent immersed in a virtual environment contributes to sickness symptom presence due to the increasing effects of fatigue on the user. [16] Oculomotor symptoms are the most common to occur due to immersion time, but the nature of the user's movements (e.g., whole-body vs. head-only) is suggested to be the primary cause of nausea or physical sickness. [16] Techniques for reducing VR sickness [ edit ] According to several studies, introducing a static frame of reference ( independent visual background ) may reduce simulation sickness. [17] [18] [19] A technique called Nasum Virtualis shows a virtual nose as a fixed frame of reference for VR headsets. [20] [21] Other techniques for reducing nausea involve simulating ways of displacement that don't create or reduce discrepancies between the visual aspects and body movement, such as reducing rotational motions during navigation, [22] dynamically reducing the field of view , [23] teleportation, [24] and movement in zero gravity . [25] In January 2020, the French start-up Boarding Ring , known for their glasses against motion sickness, [26] released an add-on device against virtual reality sickness. [27] Using two small screens in the user's peripheral field of view, the device displays visual information consistent with vestibular inputs, avoiding the sensory conflict. ... Retrieved 2019-03-08 . ^ a b Lang, B. (January 16, 2014). "First impressions of Valve's VR head mounted display prototype" . ... PMID 11538019 . v t e Mixed and virtual reality Concepts Applications of virtual reality Artificial reality Augmented reality Degrees of freedom Immersion Projection augmented model Real life Reality–virtuality continuum Room-scale Telepresence Virtual reality sickness Virtual world persistent Technology Omnidirectional treadmill Wearable computer Haptic suit Display Head-mounted display optical Head-up display Virtual retinal display Virtual reality headset ( comparison ) 3D interaction Positional tracking Eye tracking Finger tracking Simultaneous localization and mapping Software Asynchronous reprojection Foveated rendering Image-based modeling and rendering Photography Free viewpoint television 360-degree video VR photography Omnidirectional camera Peripherals Cyberith Virtualizer Oculus Touch Leap Motion PlayStation Move Razer Hydra Virtuix Omni Wired glove Wizdish ROVR Immersive devices Current Google Cardboard HTC Vive Nintendo Labo VR Kit Oculus Go Oculus Quest 2 Oculus Rift CV1 Rift S OSVR Magic Leap Samsung Gear VR PlayStation VR Pimax Valve Index Vuzix Blade Windows Mixed Reality Microsoft HoloLens 2 Google Glass Legacy Famicom 3D System Google Daydream Liquid Image Sensorama Sega VR Sword of Damocles Vuzix VFX1 Headgear Virtual Boy Virtuality Applications ARToolKit ARCore Interactive art Virtual graffiti OpenVR OpenXR Pervasive game WebVR Games List of HTC Vive games List of Oculus Quest games List of Oculus Rift games List of PlayStation VR games v t e Motion sickness Types Airsickness Seasickness Simulator sickness Ski sickness Space adaptation syndrome Virtual reality sickness Medicine treatment Bonine Cinnarizine Dramamine Marezine Promethazine Transdermscop Related Bárány chair Sickness bag

To identify additional susceptibility loci, Miceli-Richard et al. (2004) genotyped 120 multiplex SpA families who were included in a genomewide scan. Linkage analyses on the first 65 families identified 4 candidate non-MHC regions on chromosomes 5q, 9q, 13q, and 17q, which were further explored in the remaining 55 multiplex families. ... Nonparametric multipoint linkage analyses of the whole data set yielded evidence of significant linkage to 9q31-q34, in the vicinity of marker D9S1776 (NPL = 4.87, lod = 5.15, p = 0.00002). By examining cosegregation of this haplotype with the disease status within the family, and by taking into account the HLA-B27 carrier status, Miceli-Richard et al. (2004) inferred a possible dominant model of inheritance with incomplete penetrance. Joints - Spondyloarthropathy Lab - Rheumatoid serologic tests negative Inheritance - Autosomal dominant ▲ Close

Please help improve it or discuss these issues on the talk page . ( Learn how and when to remove these template messages ) This article needs additional citations for verification . ... Check that Wiktionary does not have an article on this word or phrase, as verified using the search page . If Wiktionary has a definition already, change this tag to {{ TWCleanup2 }} or else consider a soft redirect to Wiktionary by replacing the text on this page with {{ Wi }}. If Wiktionary does not have the definition yet, consider moving the whole article to Wiktionary by replacing this tag with the template {{ Copy to Wiktionary }}.

Auer-Grumbach et al. (2016) reported families with autosomal dominant transmission of susceptibility to late-onset CMT2T. ... The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families in which segregation was analyzed. ... MME mutations accounted for 13% of patients with a diagnosis of autosomal recessive CMT who underwent whole-exome sequencing, and Higuchi et al. (2016) concluded that mutations in the MME gene are the most frequent cause of autosomal recessive axonal CMT in the Japanese population. Susceptibility to Late-Onset Charcot-Marie-Tooth Disease Type 2T In 19 probands of European descent with late-onset axonal CMT, Auer-Grumbach et al. (2016) identified 11 different heterozygous variants in the MME gene (see, e.g., 120520.0007-120520.0009), including 7 loss-of-function alleles and 4 missense alleles. The variants in the first 3 families were found by whole-exome sequencing; subsequent MME variants were found in 6 of 45 additional probands with a similar disorder who underwent direct sequencing of the MME gene. Select patient samples and in vitro cellular studies were consistent with decreased tissue availability of neprilysin and impaired enzymatic activity. Examination of repositories of whole-exome data from more than 10,000 individuals with neurologic and other disorders found 12 more individuals with heterozygous truncating variants, 10 of whom had polyneuropathy, motor neuron disorder, or sensory ataxia.