disability (ID) is one of the most demanding challenges for clinical Geneticists and Researchers. [moh-it.pure.elsevier.com]

(ARID) genes, linkage analysis based on autozygosity mapping helped identify an intellectual disability locus on Chr.12q24, in an Iranian family (LOD score 3.7). [pdfs.semanticscholar.org]

X-linked intellectual disability accounts for 16% of all cases of intellectual disability in males. [ipscenter.nl]

[…] and cause up to 50% of intellectual disability worldwide. [medicalxpress.com]

[…] behavioural or neurodevelopmental disorders Neurodevelopmental disorders 6A00 Disorders of intellectual development H00773 Autosomal dominant mental retardation Pathway hsa04728 Dopaminergic synapse hsa04261 Adrenergic signaling in cardiomyocytes hsa04024 cAMP [kegg.jp]

Smith RHJ, Shearer AE, Hildebrand MS, Van Camp G. Deafness and hereditary hearing loss overview. GeneReviews [Internet]. RA Pagon, MP Adam, HH Ardinger, et al., eds. Seattle, WA: University of Washington, Seattle; updated January 9, 2014. [aetna.com]

Pulmonary AVMs (PAVMs) can be asymptomatic or manifest as dyspnea and hypoxemia secondary to shunting. [aetna.com]

DNA analysis of asymptomatic patients with a positive family history of an autosomal dominant ataxia is also possible. Predictive testing of these patients, including prenatal diagnosis, introduces complex issues and risks. [chginc.org]

ALS patients with C9orf72 expansions are more likely to have Parkinsonism and bulbar findings (dysphagia, dysarthria). Some individuals with repeat expansions in C9orf72 also develop frontotemporal dementia (FTD). [chginc.org]

Affected individuals typically present with asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). [aetna.com]

[…] syndrome Genetic condition characterized by the core phenotype of developmental delay, intellectual disability, speech impairment, (childhood) hypotonia and distinct facial features, including synophrys, hypertelorism, midface hypoplasia, anteverted nares, prognathism [nature.com]

[…] defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. ( 17847003 ) Motazacker M.M....Kuss A.W. 2007 14 Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus [malacards.org]

In Family 4, Patient 4.1 shows features that are commonly present in other types of CDGs, including hypotonia, strabismus and inverted nipples, whereas the other sibling has a syndromal intellectual disability phenotype with macrocephaly, aggressivity [brain.oxfordjournals.org]

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus Alazami, A. M.; Hijazi, H.; Al‐Dosari, M. S.; Shaheen, R.; Hashem, A.; Aldahmesh, M. A. [deepdyve.com]

No facial dysmorphism was observed except for affected individual IV-10 who had strabismus (Figure 2 ). [bmcmedgenet.biomedcentral.com]

Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS Title Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus [genome.jp]

cerebellar ataxia - intellectual deficit Autosomal dominant keratitis Extraskeletal Ewing sarcoma Foveal hypoplasia - presenile cataract Isolated aniridia Isolated optic nerve hypoplasia Morning glory syndrome Peters anomaly WAGR syndrome Williams [csbg.cnb.csic.es]

[…] in children and adolescents with obsessive–compulsive disorder Hauser et al. 2006 Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma Grønskov et al. 2001 Population-based risk estimates of Wilms tumor in sporadic aniridia [google.la]

[…] early-onset osteoarthritis Multiple epiphyseal dysplasia, Beighton type Platyspondylic dysplasia, Torrance type Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepiphyseal dysplasia congenita Spondylometaphyseal dysplasia, 'corner fracture [csbg.cnb.csic.es]

To date, there are no genome-wide association studies on fracture or BMD loss. Therefore, it remains unclear whether the same genes that determine BMD also affect the rate of bone loss with advancing age or the risk of fractures”. [aetna.com]

IMPERFECTA TYPE I, II, III, IV GENES: COL1A1 (collagen, type I, alpha 1); COL1A2 (collagen, type I, alpha 2) CHROMOSOMAL LOCATION: 17q21.33 (COL1A1), 7q22.1 (COL1A2) MODE OF INHERITANCE: Autosomal dominant Osteogenesis imperfecta (OI) is characterized by fractures [chginc.org]

[…] connective tissue disorder that includes ophthalmologic (myopia, cataract, and retinal detachment), craniofacial (Pierre Robin sequence: micrognathia, glossoptosis, cleft palate, midface hypoplasia), audiologic (hearing loss), and joint abnormalities (early arthritis [chginc.org]

Hereditary Hemochromatosis Hemochromatosis, a condition involving excess accumulation of iron, can lead to iron overload, which in turn can result in complications such as cirrhosis, diabetes, cardiomyopathy, and arthritis (Burke 1992; Hanson et al, 2001 [aetna.com]

Common features of XLAG include muscle spasticity, hypotonia, epilepsy, abnormal genitalia, developmental delay, and severe intellectual disability. [chginc.org]

2 Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. ( 21643797 ) Rehman S.u....Hansen L. 2011 3 Autosomal recessive mental retardation, deafness, ankylosis [malacards.org]

Affected individuals have macrocephaly and almost all will develop mucocutaneous lesions including trichilemmomas, papillomatous papules, and acral and plantar keratoses. [chginc.org]

[…] of disease transmission to offspring Melville et al. 2005 A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs Fölster-Holst et al. 1998 Linkage between atopy and the IgE high-affinity receptor gene at 11q13 in atopic dermatitis [google.la]

Contextual fear conditioning showed a significant decrease in the percentage of freezing time in CamKII(cre/ ), crbn(-/-) and crbn(-/-) mice while motor function, exploratory motivation, and anxiety-related behaviors were normal. [ncbi.nlm.nih.gov]

It is formed of a 97-item questionnaire covering eight domains, namely, anxiety disorder, depressive episode, manic episode, obsessive compulsive disorder, psychosis, attention-deficit hyperkinetic disorder, conduct disorder and autism spectrum disorder [dovepress.com]

FHI can manifest as early as within a few hours after birth (neonatal-onset) or in the first months of life (childhood-onset). [chginc.org]

A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T and Cooper GM Human genetics 2018 PUBMED: 29740699 ; PMC: 5973976 ; DOI: 10.1007/s00439-018-1887-y A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset [ddduk.org]

Eye examination showed alternating esotropia and fine horizontal nystagmus, fundus examination could not be done. The rest of her cranial nerve examination was grossly normal. [google.la]

X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia. J Pediatr Ophthalmol Strabismus. 1988;25(1):33-36. Lorenz B, Andrassi M, Miliczek KD. [aetna.com]

Part A 2016 ; 170 ; 6 ; PUBMED: 26940150 ; DOI: 10.1002/ajmg.a.37604 Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. [ddduk.org]

The condition typically presents in infancy or early childhood and is characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. [chginc.org]

De Fusco M, Vago R, Striano P, et al. (2014) The alpha2B‐adrenergic receptor is mutant in cortical myoclonus and epilepsy. Annals of Neurology 75 (1): 77–87. [els.net]

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology 75, 1454–1458 (2010). 88. McCarthy, S. E. et al. [nature.com]

Dentatorubral pallidoluysian atrophy (DRPLA) is an autosomal dominant disorder characterized by myoclonus, seizures, ataxia, choreoathetosis and dementia. [chginc.org]

Epsilon-Sarcoglycan Gene (SCGE) Deletion Analysis Myoclonus-dystonia (M-D), an autosomal dominant inherited movement disorder, has been associated with mutations in the epsilon-sarcoglycan gene (SCGE) on 7q21. [aetna.com]

creatine transporter 1 sequencing for testing parents of individuals with seizures; GABRG2 mutations for infantile febrile seizures; Generalized epilepsy with febrile seizures plus (GEFS )) Sleep-walking Townes-Brocks syndrome (SALL1 gene) Type 2 diabetes [aetna.com]

Variants in this gene are associated with a range of phenotypes that include generalized epilepsy with febrile seizures, early infantile epileptic encephalopathy, Dravet syndrome and intractable childhood epilepsy, severe myoclonic epilepsy of infancy [chginc.org]