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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.[] retardation.[] We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR).[]

  • 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.[] 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[] A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms. Clin.[]

  • Prader-Willi Syndrome

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

  • Sanjad-Sakati Syndrome

    foot - Small hand / acromicria - Thin / retracted lips Frequent - Anomalies of teeth and dentition - Enamel anomaly - Repeat respiratory infections Occasional - Anophthalmos[] retardation–dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.[] (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[]

  • 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    ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes TBCE (Withdrawn symbols: HRD, KCS, KCS1, pac2 ) Mouse Orthologs Tbce[] Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died.[] […] 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[]

  • 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).[] 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[] Disease Ontology Browser Armfield syndrome ( DOID:0050764 ) Alliance: disease page Synonyms: Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked[]

  • 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[] Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation.[] The second patient is a 21-year-old female presenting with rounded "moon" face, trunk obesity, coeliac disease, short stature and mild mental retardation.[]

  • 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.[] 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[] Arena syndrome 0 *Spastic Paraplegia, Hereditary *Mental Retardation, X-Linked.[]

  • 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.[] Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental Retardation Syndrome 2 Alopecia-Mental Retardation Syndrome 3 Alopecia-Mental Retardation Syndrome with Convulsions[] Retardation, And Dysequilibrium Syndrome 1 Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Congenital, And Mental Retardation[]

  • 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.[] This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation.[] Author information 1 Oasi Institute (IRCCS) for Research on Mental Retardation and Brain Aging, Troina, Italy., 2 Section of Endocrinology[]

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