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5,122 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, EEG Later Shows Generalized Spikes or Polyspikes and Focal Spikes, Mental Retardation

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  • Myoclonic-Astatic Epilepsy

    In contrast, LGS was associated with mental retardation, which persisted after seizure control.[ncbi.nlm.nih.gov] All the patients with refractory seizures showed moderate or severe mental retardation.[ncbi.nlm.nih.gov] Within MAE groups combined, clinical and EEG risk factors for mental retardation could be identified.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Early Infantile Epileptic Encephalopathy Type 6

    The former patient showed moderate mental retardation; however, seizure was controlled to almost one incident a year by levetiracetam and topiramate.[ncbi.nlm.nih.gov] In severe cases, patients may present with profound neurological deficit including hypotonia, seizures and mental retardation.[ncbi.nlm.nih.gov] MalaCards based summary : Chudley Rozdilsky Syndrome, also known as multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism, is related[malacards.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • West Syndrome

    We report a girl with mild mental retardation with onset of infantile spasms at age of 9 months.[ncbi.nlm.nih.gov] Since then, mental retardation, particularly in terms of language development, became increasingly more obvious.[ncbi.nlm.nih.gov] A 6-month-old girl visited our hospital because of mental retardation, regression, and tonic spasms in cluster.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Early Infantile Epileptic Encephalopathy Type 17

    A new familial form of convulsive disorder and mental retardation limited to females. J. Pediatr. 79, 726–732 (1971). 11 Fabisiak, K. & Erickson, R.P.[oadoi.org] Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families Kim Hynes 1, 2, Patrick Tarpey 3, Leanne M Dibbens[dx.doi.org] A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms. Clin.[oadoi.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Lennox-Gastaut Syndrome

    In contrast, LGS was associated with mental retardation, which persisted after seizure control.[ncbi.nlm.nih.gov] The Lennox-Gastaut syndrome (LGS) is an electro-clinical syndrome of early childhood that consists of mental retardation, intractable generalized epilepsy with multiple seizure[ncbi.nlm.nih.gov] At the last examination, mental retardation was found in 95% of the cryptogenic group and in 100% of the symptomatic group.[emedicine.medscape.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Sotos Syndrome

    Abstract MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal[ncbi.nlm.nih.gov] Sotos syndrome - cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination.[medical-dictionary.thefreedictionary.com] Sotos syndrome is a genetic disorder characterized by early and excessive growth, acromegalic features, mental retardation, advanced bone age, and a distinctive facial appearance[ncbi.nlm.nih.gov]

    Missing: EEG Later Shows Generalized Spikes or Polyspikes and Focal Spikes
  • Seckel Syndrome

    ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[symptoma.com] The syndrome is characterized by severe intrauterine and postnatal growth retardation with proportional dwarfism, typical beak-like triangular nose, and mental retardation[ncbi.nlm.nih.gov]

    Missing: EEG Later Shows Generalized Spikes or Polyspikes and Focal Spikes
  • Epilepsy

    Epilepsy with mental retardation limited to females (EFMR) is a rare type of X-linked epilepsy disorder, affecting heterozygous females disproportionately.[ncbi.nlm.nih.gov] Berkovic, Epilepsy and mental retardation limited to females: an under-recognized disorder, Brain, Volume 131, Issue 4, April 2008, Pages 918–927, Download citation file:[brain.oxfordjournals.org] PCDH19 epilepsy was previously known as "epilepsy and mental retardation limited to females", since the condition almost exclusively affects females.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Patterson Pseudoleprechaunism Syndrome

    […] age; [Limbs]; Joint laxity; Genu valgum; Long arm span; [Hands]; Large hands; Disharmonic maturation of phalanges and carpal bones; [Feet]; Pes planus; Large feet SKIN, NAILS[findzebra.com] retardation, and major bony deformities.[doi.org] Overview A very rare disorder characterized by excessive pigmentation, looks skin, unusual face, several mental retardation and bone abnormalities.[checkorphan.org]

    Missing: EEG Later Shows Generalized Spikes or Polyspikes and Focal Spikes
  • Early Infantile Epileptic Encephalopathy Type 3

    retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome XL, XLR 8 CACNA1A 601011 episodic ataxia type 2; familial hemiplegic[centogene.com] 62 90 MECP2 Angelman-like syndrome, Autism, Rett syndrome, Encephalopathy, Mental retardation XL 506 1039 MEF2C Mental retardation AD 45 84 MOCS1 * Molybdenum cofactor deficiency[blueprintgenetics.com] Neurodegeneration and mental retardation associated with STXBP1 are presumed to be an intrinsic property of the gene mutations, and are independent of the severity of the[pediatricneurologybriefs.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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