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19 Possible Causes for De Novo Mutation Identified in Some Patients, SHORT Syndrome

  • SHORT Syndrome

    SHORT syndrome is a very rare genetic disease that is distinguished by the simultaneous presence of a short stature, prominent hyperextensibility of the joints, inguinal hernia[symptoma.com] Prognosis Individuals with SHORT syndrome are considered to have a normal life-expectancy.[orpha.net] SHORT syndrome SHORT syndrome is inherited in a autosomal dominant manner SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in[en.wikipedia.org]

  • Wiedemann-Steiner Syndrome

    Here, we identify six novel KMT2A mutations in six WSS patients, with four mutations occurring de novo.[ncbi.nlm.nih.gov] Children with WSS are often short and until recently, it had been assumed that short stature is an intrinsic part of the syndrome.[ncbi.nlm.nih.gov] Wiedemann–Steiner syndrome Other names Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome [1] Wiedemann–Steiner syndrome is a rare genetic disorder[en.wikipedia.org]

  • Macrocephaly

    However, no other disease-causing de novo mutation was identified ( Supplementary Table 1 ).[nature.com] When associated with relative macrocephaly, the phenotype resembles Silver-Russell syndrome (SRS).[ncbi.nlm.nih.gov] […] cutis laxa Macrocephaly Macrocephaly, short stature, paraplegia syndrome Macrocephaly-capillary malformation MACS syndrome MOMO syndrome Overgrowth, macrocephaly, facial[icdlist.com]

  • Organic Aciduria

    In the majority of female patients and in some male patients the mutation appears de novo and the mother is not a disease carrier[ 77 ].[doi.org] […] dysmorphisms, heart defect and short stature.[hal.archives-ouvertes.fr] […] organic acidemia and Reye's syndrome. ( 1167641 ) Trauner D.A....Sweetman L. 1975[malacards.org]

  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

    De novo mutations in exon 8 of FGFR2 were identified in both; one is a mutation (c.799T C; p.Ser267Pro) previously identified in individuals with CS and the other a novel[karger.com] Syndrome Lipodystrophy, Partial, With Rieger Anomaly And Short Stature Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay 269880[ukgtn.nhs.uk] Patients with SADDAN syndrome have extreme short stature, tibial bowing, seizures and hydrocephalus. 1 In addition, there are two craniosynostosis syndromes associated with[nature.com]

  • Lennox-Gastaut Syndrome

    Interestingly, in multiple patients we identified de novo mutations in genes previously implicated in other neurodevelopmental conditions, and in some cases with very distinctive[ncbi.nlm.nih.gov] Short description: Lennox-Gastaut syndrome, not intractable, w/o stat epi The 2019 edition of ICD-10-CM G40.812 became effective on October 1, 2018.[icd10data.com] The short-term mortality of Lennox-Gastaut syndrome is approximately 4-7%. This is largely due to seizure-related fatal accidents.[myvmc.com]

  • Baraitser Syndrome

    Recently, de novo mutations in STK36 have been identified in patients with epileptic encephalopathies [ 20 ].[bmcmedgenet.biomedcentral.com] Nicolaides-Baraitser syndrome: Confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.[ijpd.in] SHASHI-PENA SYNDROME Sheehan syndrome short bowel syndrome short QT syndrome Short Stature-Obesity Syndrome SHORT Syndrome shoulder impingement syndrome Shprintzen Omphalocele[rgd.mcw.edu]

  • Coffin-Siris Syndrome 2

    However, no other disease-causing de novo mutation was identified ( Supplementary Table 1 ).[doi.org] Coffin–Siris syndrome Other names Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, Short Stature-Onychodysplasia[en.wikipedia.org] Ramji Syndrome SHASHI-PENA SYNDROME Sheehan syndrome short bowel syndrome short QT syndrome SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES Short Stature, Facial Dysmorphism[rgd.mcw.edu]

  • X-Linked Mental Retardation Type 23

    However, it is thought that the majority of cases of moderate-to-severe intellectual disability are due to de novo mutations, which cannot be detected by means of linkage[nejm.org] XLR 12 FLNA 300017 Congenital short bowel syndrome; Heterotopia, periventricular / X-linked periventricular heterotopia; Terminal osseous dysplasia; FG syndrome 2; Otopalatodigital[centogene.com] Some of the symptoms associated with the mutant phenotype are enlarged head, abnormal gait, and short stature.[scholarexchange.furman.edu]

  • Rare Familial Disorder with Hypertrophic Cardiomyopathy

    […] to de novo mutations.(9) The clinical diagnosis of HCM depends on the presence of left ventricular hypertrophy (LVH), measured by echocardiography or magnetic resonance imaging[bcidaho.com] (LQTS) Brugada syndrome Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Short QT Syndrome (SQTS) Marfan syndrome Marfan syndrome is an inherited - or genetic[nhsinform.scot] Short–QT syndrome Short-QT syndrome is a familial disease that is characterized by a high incidence of sudden death.[intechopen.com]

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