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2,105 Possible Causes for 3rd-4th Toe Clinodactyly, Electroencephalogram Abnormal, Mild to Severe Mental Retardation

Did you mean: 3rd-4th Toe Clinodactyly, Electroencephalogram Abnormal, Mild to, Severe Mental Retardation

  • Alzheimer Disease

    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy[doi.org]

    Missing: 3rd-4th Toe Clinodactyly
  • Early Infantile Epileptic Encephalopathy Type 6

    […] on the EEG [electroencephalogram] with a slow spike and slow wave pattern of 1.5 to 2 Hz, [and it has] different seizure types.[neurologylive.com] […] to severe mental retardation, sleep disturbances and personality disorders (such as social isolation, frequent mood swings).[stuff.co.nz] MRI showed abnormalities in the bilateral thalami, cerebellum and brainstem. These abnormalities were protracted over a month.[ncbi.nlm.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly
  • Phenylketonuria

    Untreated patients usually exhibit severe mental retardation and poor motor function, with characteristic T2 white matter signal abnormalities on conventional MR images.[ncbi.nlm.nih.gov] Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with absent development of verbal language and autistic symptoms in all three patients[ncbi.nlm.nih.gov] mental retardation (MR).[ncbi.nlm.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly
  • Epilepsy

    Electroencephalogram findings were described in eleven, and nine (82%) showed epileptiform abnormalities.[ncbi.nlm.nih.gov] 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.[doi.org] mentally retarded individuals, Psychiatry and Clinical Neurosciences, 54, 1, (17-22), (2001).[oadoi.org]

    Missing: 3rd-4th Toe Clinodactyly
  • Juvenile Myoclonic Epilepsy

    Partial seizures and asymmetric abnormalities seen on electroencephalogram (EEG) are infrequent in juvenile myoclonic epilepsy, but when present, can lead to a misdiagnosis[ncbi.nlm.nih.gov] Physical examination revealed a small stature, bilateral pyramidal signs, severe mental retardation, and retinis pigmentosa.[ncbi.nlm.nih.gov] The EEG (electroencephalogram) is the most important test in making a diagnosis of juvenile myoclonic epilepsy.[epilepsy.com]

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

    An electroencephalogram (EEG) is very abnormal in these cases.[verywell.com] The related gene mutations cause early infantile epileptic encephalopathy characterized by intractable epilepsy, severe mental retardation and, later, the development of Rett[ncbi.nlm.nih.gov] The disorder is also characterized by a severely abnormal electroencephalogram (EEG) called “burst-suppression” in which short periods of abnormal brain activity are separated[kcnq2cure.org]

    Missing: 3rd-4th Toe Clinodactyly
  • GLUT1 Deficiency Syndrome

    Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation.[uniprot.org] Absence seizures appeared at the age of 4 years, and electroencephalogram (EEG) showed irregular discharges of diffuse epileptic abnormalities.[ncbi.nlm.nih.gov] Cognitive impairment is variable, ranging from learning disabilities to severe mental retardation.[medical-dictionary.thefreedictionary.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Rubinstein-Taybi Syndrome

    Electroencephalogram showed temporal right epileptiform abnormalities.[docksci.com] Abstract Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to severe mental[ncbi.nlm.nih.gov] Mental retardation of varying degrees is a constant in RSTS. Affected individuals may present mild to severe mental retardation.[encyclopedia.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Myoclonic-Astatic Epilepsy

    Diagnosis The EEG (electroencephalogram), which records the electrical activity in the brain, is usually abnormal.[epilepsy.org.uk] All the patients with refractory seizures showed moderate or severe mental retardation.[ncbi.nlm.nih.gov] Information also comes from tests such as: EEG (electroencephalogram): children with EMAS may have normal EEGs at first, but most have abnormal EEGs that show frequent synchronous[epilepsy.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Cerebral Palsy

    Measuring them can help to detect abnormalities of hearing and vision. Electroencephalogram (EEG) - this can help to detect damage from hypoxia and vascular insult.[patient.info] All had moderate to severe mental retardation.[ncbi.nlm.nih.gov] If cerebral palsy is suspected, a doctor will take a comprehensive history and perform a physical examination to check for stiff muscles and abnormal reflexes.[columbiadoctors.org]

    Missing: 3rd-4th Toe Clinodactyly

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