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3,909 Possible Causes for CRASH is an Acronym which Encompasses all L1CAM Diseases: Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus

Did you mean: CRASH is an Acronym which Encompasses all L1CAM, Diseases, Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus

  • Roy-Maroteaux-Kremp Syndrome

    […] ataxia Spastic Diplegia Infantile Type Spastic Paraplegia and Evans Syndrome Spastic Paraplegia and Psychomotor Retardation with or without Seizures Spastic Paraplegia Epilepsy[rgd.mcw.edu] Syndrome Beardwell Syndrome Beaulieu-Boycott-Innes Syndrome Becker Nevus Syndrome Beckwith-Wiedemann syndrome Beemer Ertbruggen Syndrome Beemer-Langer syndrome Behcet's disease[rgd.mcw.edu] Weber Type Mental Retardation Smith Fineman Myers Type Mental Retardation Spasticity Ectrodactyly Mental Retardation Syndrome, Belgian Type Mental Retardation with Language[rgd.mcw.edu] , with or without mental retardation Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus[rgd.mcw.edu] Thumbs Syndrome Adie syndrome Adrenogenital Syndrome adult respiratory distress syndrome ADULT syndrome AGAT deficiency Agonadism, XY, with Mental Retardation, Short Stature[rgd.mcw.edu]

  • Tollner-Horst-Manzke Syndrome

    paraplegia 25 Spastic paraplegia 26 Spastic paraplegia 29 Spastic paraplegia 3 Spastic paraplegia 31 Spastic paraplegia 32 Spastic paraplegia 4 Spastic paraplegia 51 Spastic[rarediseases.info.nih.gov] Weber Type Mental Retardation Smith Fineman Myers Type Mental Retardation Spasticity Ectrodactyly Mental Retardation Syndrome, Belgian Type Mental Retardation with Language[rgd.mcw.edu] disease Charcot-Marie-Tooth disease type 2J - See Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2K - See Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease[rarediseases.info.nih.gov] Thumbs Syndrome Adie syndrome Adrenogenital Syndrome adult respiratory distress syndrome ADULT syndrome AGAT deficiency Agonadism, XY, with Mental Retardation, Short Stature[rgd.mcw.edu] […] due to congenital stenosis of aqueduct of sylvius Hydrocephalus obesity hypogonadism Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly Hydrocephalus-cleft palate-joint[rarediseases.info.nih.gov]

  • Kashani-Strom-Utley Syndrome

    Paraplegia and Evans Syndrome Spastic Paraplegia with Kallmann Syndrome Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects SPOAN syndrome spondylocarpotarsal[rgd.mcw.edu] Homepage Rare diseases Search Search for a rare disease OBSOLETE: Pulmonary aortic stenosis obstructive uropathy ORPHA:1137 Synonym(s): Kashani-Strom-Utley syndrome Prevalence[orpha.net] Overview A very rare syndrome characterized mainly by a narrowed pulmonary aorta and urinary obstructive disease.[checkorphan.org] Kashani Strom Utley Syndrome 54 74 Hypoplastic Pulmonary Arteries and Aorta with Obstructive Uropathy 54 Pulmonary Aortic Stenosis Obstructive Uropathy 54 Classifications: Diseases[malacards.org] Clefting Syndrome Craniosynostosis Syndrome, Autosomal Recessive Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig Cree Mental Retardation Syndrome crescentic[rgd.mcw.edu]

  • Hereditary Spastic Paraplegia

    Hereditary spastic paraplegia: advances in genetic research.[ncbi.nlm.nih.gov] Disease severity increased with disease duration. Earlier disease onset was associated with less severe disease.[ncbi.nlm.nih.gov] […] complicated where in addition to spasticity and weakness of lower extremeties, additional neurological symptoms are present, including dementia, loss of vision, epilepsy, mental retardation[ncbi.nlm.nih.gov] SPG1 HSP is linked to mutations in the gene for the L1 cell adhesion molecule (L1CAM); these mutations are associated with hydrocephalus, spasticity, ataxia, mental retardation[emedicine.com] Two siblings with mental retardation developed a progressive spastic paraparesis in their late teens.[ncbi.nlm.nih.gov]

  • X-Linked Spastic Paraplegia Type 34

    What is hereditary spastic paraplegia?[patientslikeme.com] The Discovery Lecture was: “DNA Aß42 Vaccination as Therapy for Alzheimer’s Disease”.[books.google.com] Volcke Ph, Dereymaeker AM, Fryns JP, Van den Berghe H: On the nosology of moderate mental retardation with special attention to X-linked mental retardation.[karger.com] The most common characteristics of L1 syndrome are muscle stiffness (spasticity) of the lower limbs, intellectual disability, increased fluid in the center of the brain (hydrocephalus[xlinked1.com] See {314100} for isolated X-linked congenital clasped thumb and {201550} for an autosomal adducted thumbs syndrome.[diseaseinfosearch.org]

  • Spastic Paraparesis-Deafness Syndrome

    Pure hereditary spastic paraplegia The main symptoms of pure hereditary spastic paraplegia are: a gradual weakness in the legs increased muscle tone and stiffness (spasticity[nhs.uk] Last updated: 10/22/2007 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person.[rarediseases.info.nih.gov] retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM: 300534 ] P41229 non-pleiotropic VAR_022733 p.Leu731Phe Disease - - Mental retardation, X-linked, syndromic[sbg.bio.ic.ac.uk] Hydrocephalus-stenosis of the aqueduct of Sylvius Intractable epilepsy Late-onset spastic paraplegia type 2 Major depressive disorder Malignant peripheral nerve sheath tumours[academic.oup.com] See {314100} for isolated X-linked congenital clasped thumb and {201550} for an autosomal adducted thumbs syndrome.[diseaseinfosearch.org]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Paraplegia 62, Autosomal Recessive Spastic Paraplegia 9 A, Autosomal Dominant Tremor , Nystagmus , And Duodenal Ulcer • • • Back to: « Cerebellum abnormality Causes List[familydiagnosis.com] - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal[csbg.cnb.csic.es] , Autosomal Dominant 20 Mental Retardation , Autosomal Dominant 35 Mental Retardation , Autosomal Dominant 36 Mental Retardation , X-Linked 102 Mental Retardation , X-Linked[familydiagnosis.com] thumbs-arthrogryposis syndrome, Christian type Adenylosuccinate lyase deficiency Adult hypophosphatasia Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis[se-atlas.de] Cerebellar atrophy MedGen UID: 892891 • Concept ID: C4020873 • Disease or Syndrome Atrophy (wasting) of the cerebellum.[ncbi.nlm.nih.gov]

  • Spastic Paraplegia

    Causes of spastic paraplegia are diverse.[symptoma.com] In conclusion, this study confirmed and expanded the clinical phenotypes associated with known disease genes.[ncbi.nlm.nih.gov] SPG14 Gene Unknown 3q27-q28 Unknown Complicated: polineuropathy, mental retardation.[scielo.br] Hydrocephalus Association 4340 East West Highway Suite 905 Bethesda, MD 20814-4447 Telephone: 301-202-3811 / 888-598-3789 Fax: 301-202-3813 Email: info@hydroassoc.org Technical[hydroassoc.org] SPG1 presents with CRASH syndrome (corpus callosum hypoplasia, retardation, adducted thumbs, spasticity and hydrocephalus).[ncbi.nlm.nih.gov]

  • X-linked Parkinsonism-Spasticity Syndrome

    "Hereditary spastic paraplegia". nhs.uk. 2017-10-18. Retrieved 2018-01-28. Fink JK (2003). "The Hereditary Spastic Paraplegias".[en.wikipedia.org] He has been involved in the surveillance of human prion disease for more than 20 years and currently leads a research team on neurodegenerative diseases.[books.google.com] Another synonymous mutation in the same exon, c.321C T (p.D107D), has a similar molecular defect of exon inclusion and causes X-linked mental retardation Hedera type (MRXSH[ncbi.nlm.nih.gov] Chromosome 9p Deletion Syndrome Chromosome 9q Deletion Syndrome Chromosome Xp Duplication Cockayne Syndrome Coffin-Lowry Syndrome Cognitive Impairment Cohen Syndrome Congenital Hydrocephalus[bladderbowel.gov.au] thumbs.[emedicine.medscape.com]

  • Spastic Quadriplegic Cerebral Palsy Type 2

    Pure hereditary spastic paraplegia The main symptoms of pure hereditary spastic paraplegia are: a gradual weakness in the legs increased muscle tone and stiffness (spasticity[nhs.uk] Homepage Rare diseases Search Search for a rare disease Inherited congenital spastic tetraplegia Disease definition Inherited congenital spastic tetraplegia is a rare, genetic[orpha.net] Mental retardation ZNF81 Mental retardation ZNF674 Mental retardation ZNF711 Mental retardation COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps[genda.com.ar] Chromosome 9p Deletion Syndrome Chromosome 9q Deletion Syndrome Chromosome Xp Duplication Cockayne Syndrome Coffin-Lowry Syndrome Cognitive Impairment Cohen Syndrome Congenital Hydrocephalus[bladderbowel.gov.au] thumbs.[emedicine.medscape.com]

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