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20 Possible Causes for Hypotonia (93%)

Did you mean: Hypotonia (93, )

  • Psychomotor Retardation

    雑誌 Am J Hum Genet 93:721-6 (2013) DOI: 10.1016/j.ajhg.2013.08.001 文献 PMID: 26545877 著者 Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum[genome.jp] , Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N タイトル Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia[genome.jp]

  • Autistic Disorder

    Patients with these duplications may not display dysmorphic features, but they often have hypotonia and/or global developmental delay (GDD) and may develop seizures later[dx.doi.org] 75 , 79 , 85 – 90 Maternally derived 15q duplications are common; depending on the investigator, yields vary from 1% to 10%, 91 with most in the range of 1% to 3%. 92 , 93[doi.org] 68, 75, 79, 85 – 90 Maternally derived 15q duplications are common; depending on the investigator, yields vary from 1% to 10%, 91 with most in the range of 1% to 3%. 92, 93[dx.doi.org]

  • Familial Neutropenia

    J Pediatr 93: 239-244.[omicsonline.org] Cohen MM Jr, Hall BD, Smith DW, Graham CB, Lampert KJ (1973) A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies.[omicsonline.org]

  • Ethylene Glycol Poisoning

    Infants can demonstrate irritability, lethargy, vomiting, pallor, hypotonia, and poor feeding 24&25 Saladino R, Shannon M.[doi.org] Accidental and intentional poisonings with ethylene glycol in infancy: diagnostic clues and management .Pediatr Emerg Care 1991 ; 7: 93 – 96 ., [PUBMED], [INFOTRIEVE], [CSA[doi.org]

  • Prader-Willi Syndrome

    (weak muscle tone) 94 Feeding problems 93 Low birthweight 30 Brain function and behavior Mental deficiency 97 Personality problems 41 Seizures 20 Growth Obesity 94 Short[ncbi.nlm.nih.gov] Prader–Willi Syndrome (PWS) Clinical Features Overall % Gestation Reduced fetal activity 76 Nonterm delivery 41 Breech presentation 26 Early infancy Developmental delay 98 Hypotonia[ncbi.nlm.nih.gov]

  • Hyperextensible Joints

    Hypotonia and motor delay were reported in 93% and 83% of cases, respectively.[jmg.bmj.com] (93%, 38/41).[docksci.com] Neurological and developmental characteristics The most consistent neurological finding in early childhood was truncal hypotonia which was reported in the majority of patients[nanopdf.com]

  • Cauda Equina Injury

    […] leads to retention and overflow incontinence Bowel dysfunction (constipation and/or incontinence) – up to 74% ( Korse 2017 ) Decreased sensation in the perianal area – up to 93%[rebelem.com] […] dysfunction (i.e. impotence) Physical Exam Saddle Paresthesia Lower extremity weakness, numbness or paresthesias (usually bilateral) Decreased or absent lower extremity reflexes Hypotonia[rebelem.com]

  • Trisomy 10p

    -- aggressive behavior - prominent ears Mental retardation, X-linked, 2 - prominent ears Mental retardation, X-linked, 59 - prominent ears Mental retardation, X-linked, 93[dumboearsinlouisiana.weebly.com] - prominent ears McDonough syndrome - prominent ears Mental retardation -- myopathy -- short stature -- endocrine defect - prominent ears Mental retardation, X-linked -- hypotonia[dumboearsinlouisiana.weebly.com]

  • Autosomal Dominant Myoglobinuria

    , respiratory muscle weakness, and feeding difficulty [ 93 ].[intechopen.com] […] muscles is the most important phenotype [ 92 ] and severe encephalomyopathy of infancy or childhood, in which brain and skeletal muscle tissue are involved, producing marked hypotonia[intechopen.com]

  • Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

    Hypotonia - cystinuria syndrome 93 Deafness - opticoacoustic nerve atrophy - dementia 94 Mohr-Tranebjaerg syndrome 94 Dent syndrome 95 Lowe syndrome 95 Chondrosarcoma 96[research.cchmc.org] […] secretion syndrome 90 Distal hereditary motor neuropathy, type 7 91 Perry syndrome 91 Diphosphoglycerate mutase deficiency of erythrocyte 92 Erythrocytosis 92 Cystinuria 93[research.cchmc.org]

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