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921 Possible Causes for Mental Retardation, Small Foot

  • Rett Syndrome

    All patients had early global developmental delays followed later by severe mental retardation.[ncbi.nlm.nih.gov] retardation.[ncbi.nlm.nih.gov] We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR).[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 2

    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.[dx.doi.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.[dx.doi.org]

  • Prader-Willi Syndrome

    Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[icd9data.com] Retardation, Vienna.[whonamedit.com] Willi: Das Syndrom von Imbezilit Ąt, Adipositas, Muskelhypotonie, Hypogenitalismus, Hypogonadismus und Diabetes mellitus mit "Anamnese". 2nd Internationa Congress of Mental[web.archive.org]

  • Sanjad-Sakati Syndrome

    foot - Small hand / acromicria - Thin / retracted lips Frequent - Anomalies of teeth and dentition - Enamel anomaly - Repeat respiratory infections Occasional - Anophthalmos[csbg.cnb.csic.es] retardation–dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.[dovepress.com] (very frequent sign) seizures (any type) (very frequent sign) short stature/dwarfism (very frequent sign) small foot (very frequent sign) small hand (very frequent sign) thin[whonamedit.com]

  • Kenny-Caffey Syndrome Type 1

    ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes TBCE (Withdrawn symbols: HRD, KCS, KCS1, pac2 ) Mouse Orthologs Tbce[mousephenotype.org] Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died.[scienceopen.com] […] delay as children 0008897 Short foot Short feet Small feet [ more ] 0001773 Small hand Disproportionately small hands 0200055 Stenosis of the medullary cavity of the long[rarediseases.info.nih.gov]

  • X-Linked Syndromic Mental Retardation Type Armfield

    […] seizures An important gene associated with Armfield X-Linked Mental Retardation Syndrome is MRXSA (Armfield X-Linked Mental Retardation Syndrome).[malacards.org] Genes and mapped phenotypes Gene ID: 57791, updated on 8-Apr-2017 Summary Gene symbol MRXSA Gene description Armfield X-linked mental retardation syndrome Primary source MIM[ncbi.nlm.nih.gov] Disease Ontology Browser Armfield syndrome ( DOID:0050764 ) Alliance: disease page Synonyms: Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked[informatics.jax.org]

  • Rothmund Thomson Syndrome

    […] eyeball 0000568 Osteoporosis 0000939 Short foot Short feet Small feet [ more ] 0001773 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palm 0004279[rarediseases.info.nih.gov] Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation.[ncbi.nlm.nih.gov] The second patient is a 21-year-old female presenting with rounded "moon" face, trunk obesity, coeliac disease, short stature and mild mental retardation.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 20

    When present it is found in distal muscles in the lower limbs, usually the small muscles of the foot and tibialis anterior.[jnnp.bmj.com] retardation 105 300984 300975 X-linked recessive USP9X Xp11.4 Mental retardation, X-linked 99 300919 300072 X-linked recessive USP9X Xp11.4 Mental retardation, X-linked 99[mnglabs.com] Arena syndrome 0 *Spastic Paraplegia, Hereditary *Mental Retardation, X-Linked.[reference.md]

  • Acrootoocular Syndrome

    Annales de Genetique 27(2): 83-87, 1984 Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.[eurekamag.com] Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental Retardation Syndrome 2 Alopecia-Mental Retardation Syndrome 3 Alopecia-Mental Retardation Syndrome with Convulsions[rgd.mcw.edu] Retardation, And Dysequilibrium Syndrome 1 Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Congenital, And Mental Retardation[ukgtn.nhs.uk]

  • Klinefelter Syndrome

    They are short in stature, averaging 4 foot 7 inches as adults, and often have distinctive webbed necks (i.e., extra folds of skin), small jaws, and high arched palates.[anthro.palomar.edu] This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation.[ncbi.nlm.nih.gov] Author information 1 Oasi Institute (IRCCS) for Research on Mental Retardation and Brain Aging, Troina, Italy. micezia@tiscali.it, msalemi@oasi.en.it. 2 Section of Endocrinology[ncbi.nlm.nih.gov]

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