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1,760 Possible Causes for 3rd-4th Toe Clinodactyly, Mild to Severe Mental Retardation, Most Mutations Occur De Novo

Did you mean: 3rd-4th Toe Clinodactyly, Mild to, Severe Mental Retardation, Most Mutations Occur De Novo

  • Early Infantile Epileptic Encephalopathy Type 6

    Most mutation occur de novo, although some familial SCN1A mutations have been reported.[] […] to severe mental retardation, sleep disturbances and personality disorders (such as social isolation, frequent mood swings).[] Within the second year of life, there are delays in behavioural and other development, mild to severe mental retardation, sleep disturbances and personality disorders (such[]

    Missing: 3rd-4th Toe Clinodactyly
  • Autosomal Dominant Mental Retardation Type 5

    - 5th fingers; Short middle phalanx of the 5th finger; Fifth finger camptodactyly; Midphalangeal hypoplasia; Clinodactyly; [Feet]; Syndactyly of 3rd - 4th toes SKIN, NAILS[] An autosomal dominant condition (OMIM:614608) characterised by multiple congenital anomalies, severe mental retardation and maladaptative behaviour appearing during the developmental[] A condition (OMIM:614607) characterised by severe mental retardation and congenital defects, such as abnormal corpus callosum, absent or hypoplastic fifth finger- or toenails[]

  • Mental Retardation

    Most of these mutations occurred as de novo mutations in unrelated patients, reflecting the hypermutability of this gene.[] Based on twin studies, moderate to severe mental retardation does not appear to be familial, but mild mental retardation does.[] This section describes the health states of individuals living with mild, moderate, or severe mental retardation.[]

    Missing: 3rd-4th Toe Clinodactyly
  • Progressive Myoclonic Epilepsy Type 7

    — Not enough data available about incidence and published cases. Panel Name, Specifity and genes Tested/covered Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc in United States. ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2,[…][]

    Missing: 3rd-4th Toe Clinodactyly Mild to Severe Mental Retardation
  • Familial Adenomatous Polyposis

    Most desmoid tumours in FAP patients occur intra-abdominally. Approximately 15-20% of the APC mutations are de novo mutations.[] retardation, several mild dysmorphic signs and lower limb venous thrombosis.[] novo mutations and germline mosaicism: Most of the APC germline mutations are inherited, but can also occur de novo in a patient with no family history of the disease, representing[]

    Missing: 3rd-4th Toe Clinodactyly
  • Familial Hypercholesterolemia

    FH caused by a de novo mutation is very rare, and therefore, documenting a detailed family history is very important.[] Primary 1 Hyperphenylalaninemia, Mild, Non-BH4-Deficient 1 Hyperphosphatasemia Tarda 1 Hyperphosphatasemia With Bone Disease 2 Hyperphosphatasia With Mental Retardation 3[] Epidemiology Heterozygous FH (HeFH) is one of the most common genetic disorders, occurring in approximately one in 200 to 500 people.[]

    Missing: 3rd-4th Toe Clinodactyly
  • Angelman Syndrome

    Most cases are sporadic, being caused by de novo deletion of maternal chromosome 15q11-13 (75%) or by paternal uniparental disomy (3-4%).[] Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy.[] The results confirm the classic findings of severe mental retardation, "puppet-like" gait, characteristic craniofacial abnormalities, and frequent episodes of laughter and[]

    Missing: 3rd-4th Toe Clinodactyly
  • West Syndrome

    A: It appears that most of the mutations are “de novo”, meaning that they occur spontaneously and are not passed down through families.[] Mental outcome was normal in 6 of 98 (6%) patients, mild mental retardation in 16 (16%), moderate mental retardation in 26 (27%), and severe mental retardation in 50 (51%)[] Q: Is this genetic mutation hereditary?[]

    Missing: 3rd-4th Toe Clinodactyly
  • Early Infantile Epileptic Encephalopathy Type 2

    In some individuals, the disorder is due to a new (de novo) genetic mutation that occurs in the egg or sperm cell.[] The related gene mutations cause early infantile epileptic encephalopathy characterized by intractable epilepsy, severe mental retardation and, later, the development of Rett[] It is an extremely debilitating progressive neurological disorder, involving intractable seizures and severe mental retardation.[]

    Missing: 3rd-4th Toe Clinodactyly
  • Epilepsy

    Among the case hot-zone insert we flag with red the hot-zone de novo mutations that occur in the epileptic encephalopathy gene list as described in the panel.[] Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum.[] mentally retarded individuals, Psychiatry and Clinical Neurosciences, 54, 1, (17-22), (2001).[]

    Missing: 3rd-4th Toe Clinodactyly