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Genetic Conditions: Mental Health



Altered genes or chromosomes may lead to conditions that impair a person's ability to think, remember, learn, or react to other people and the environment.



- A -
  • Acanthocytosis with neurologic disorder see Chorea-acanthocytosis
  • AD see Alzheimer disease
  • Adrenoleukodystrophy see X-linked adrenoleukodystrophy
  • Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
  • AGA deficiency see Aspartylglucosaminuria
  • Albright hereditary osteodystrophy-like syndrome see 2q37 deletion syndrome
  • ALD (Adrenoleukodystrophy) see X-linked adrenoleukodystrophy
  • Allan-Herndon-Dudley syndrome
  • Allan-Herndon syndrome see Allan-Herndon-Dudley syndrome
  • Alzheimer disease
  • Angelman syndrome
  • AS see Angelman syndrome
  • Aspartylglucosamidase deficiency see Aspartylglucosaminuria
  • Aspartylglucosaminidase deficiency see Aspartylglucosaminuria
  • Aspartylglucosaminuria
  • Autism-dementia-ataxia-loss of purposeful hand Use syndrome see Rett syndrome
  • Autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome


  • - B -
  • BDLS see Cornelia de Lange syndrome
  • Beuren syndrome see Williams syndrome
  • Brachmann-De Lange syndrome see Cornelia de Lange syndrome
  • Brachydactyly-mental retardation syndrome see 2q37 deletion syndrome


  • - C -
  • CADASIL see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • CDLS see Cornelia de Lange syndrome
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Cerebroatrophic Hyperammonemia see Rett syndrome
  • CHAC see Chorea-acanthocytosis
  • Chorea-acanthocytosis
  • Choreoacanthocytosis see Chorea-acanthocytosis
  • Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
  • Chromosome 17p deletion syndrome see Smith-Magenis syndrome
  • Chronic Motor and Vocal Tic Disorder see Tourette syndrome
  • Complete HPRT deficiency see Lesch-Nyhan syndrome
  • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
  • Cornelia de Lange syndrome
  • Costello syndrome
  • CRASH syndrome see L1 syndrome


  • - D -
  • DAT see Alzheimer disease
  • De Lange syndrome see Cornelia de Lange syndrome
  • Deafness-dystonia-optic neuronopathy syndrome
  • Deafness-dystonia syndrome see Deafness-dystonia-optic neuronopathy syndrome
  • Deficiency of guanine phosphoribosyltransferase see Lesch-Nyhan syndrome
  • Deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome
  • 7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
  • 2q37 deletion syndrome
  • 11p deletion syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
  • 16p11.2 deletion syndrome
  • Deletion 17p syndrome see Smith-Magenis syndrome
  • 22q11.2 deletion syndrome see Opitz G/BBB syndrome
  • 22q13.3 deletion syndrome
  • 22q13 deletion syndrome see 22q13.3 deletion syndrome
  • Down syndrome


  • - E -
  • Elfin facies syndrome see Williams syndrome
  • Elfin facies with hypercalcemia see Williams syndrome


  • - F -
  • Faciocutaneoskeletal syndrome see Costello syndrome
  • Familial Alzheimer disease (FAD) see Alzheimer disease
  • Familial Turner syndrome see Noonan syndrome
  • Familial vascular leukoencephalopathy see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • FCS syndrome see Costello syndrome
  • Female Pseudo-Turner syndrome see Noonan syndrome
  • Fra(X) syndrome see Fragile X syndrome
  • Fragile X syndrome
  • FRAXA syndrome see Fragile X syndrome
  • FXS see Fragile X syndrome


  • - G -
  • Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
  • Gilles de la Tourette syndrome see Tourette syndrome
  • Glycosylasparaginase deficiency see Aspartylglucosaminuria
  • GTS see Tourette syndrome


  • - H -
  • Hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sjögren syndrome
  • Huntington disease
  • Hypercalcemia-supravalvar aortic stenosis see Williams syndrome
  • Hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome
  • Hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome
  • Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency see Lesch-Nyhan syndrome


  • - I -
  • Infantile hypercalcemia see Williams syndrome
  • Inherited human transmissible spongiform encephalopathies see Prion disease


  • - J -
  • Jacob's syndrome see 47,XYY syndrome
  • Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
  • Juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome


  • - K -


    - L -
  • L1 syndrome
  • Lacunar Dementias see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Lesch-Nyhan syndrome
  • LNS see Lesch-Nyhan syndrome


  • - M -
  • Male Turner syndrome see Noonan syndrome
  • Marinesco-Garland syndrome see Marinesco-Sjögren syndrome
  • Marinesco-Sjögren syndrome
  • Marker X syndrome see Fragile X syndrome
  • Martin-Bell syndrome see Fragile X syndrome
  • MASA syndrome see L1 syndrome
  • McLeod neuroacanthocytosis syndrome
  • Mental retardation, X-linked, with hypotonia see Allan-Herndon-Dudley syndrome
  • Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
  • Monocarboxylate transporter 8 (MCT8) deficiency see Allan-Herndon-Dudley syndrome
  • 17p11.2 monosomy see Smith-Magenis syndrome
  • Monosomy 22q13 see 22q13.3 deletion syndrome
  • MSS see Marinesco-Sjögren syndrome
  • Multi-infarct dementia see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy


  • - N -
  • Neuroacanthocytosis see Chorea-acanthocytosis
  • Noonan syndrome


  • - O -
  • Opitz G/BBB syndrome


  • - P -
  • 11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
  • Partial monosomy 17p see Smith-Magenis syndrome
  • Phelan-McDermid syndrome see 22q13.3 deletion syndrome
  • Prader-Labhart-Willi syndrome see Prader-Willi syndrome
  • Prader-Willi syndrome
  • Presenile and senile dementia see Alzheimer disease
  • Primary hyperuricemia syndrome see Lesch-Nyhan syndrome
  • Primary Senile Degenerative Dementia see Alzheimer disease
  • Prion disease
  • Progressive Chorea, Chronic Hereditary (Huntington) see Huntington disease
  • Pseudo-Ullrich-Turner syndrome see Noonan syndrome
  • PWS see Prader-Willi syndrome


  • - Q -


    - R -
  • Rec(8) syndrome see recombinant 8 syndrome
  • Recombinant 8 syndrome
  • Rett syndrome
  • RSH syndrome see Smith-Lemli-Opitz syndrome
  • RTS see Rett syndrome
  • RTT

  • - S -
  • San Luis Valley syndrome see recombinant 8 syndrome
  • Schilder-Addison Complex see X-linked adrenoleukodystrophy
  • SDAT see Alzheimer disease
  • SLO syndrome see Smith-Lemli-Opitz syndrome
  • SLOS see Smith-Lemli-Opitz syndrome
  • Smith-Lemli-Opitz syndrome
  • Smith-Magenis syndrome
  • SMS see Smith-Magenis syndrome
  • SPG1 see L1 syndrome
  • Supravalvar aortic stenosis syndrome see Williams syndrome
  • 17p- syndrome see Smith-Magenis syndrome


  • - T -
  • TD see Tourette syndrome
  • Total HPRT deficiency see Lesch-Nyhan syndrome
  • Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
  • Tourette syndrome
  • Transmissible Dementias see Prion disease
  • Transmissible Spongiform Encephalopathies see Prion disease
  • Triple X syndrome
  • Triplo X syndrome see Triple X syndrome
  • Trisomy 21 see Down syndrome
  • Trisomy X see Triple X syndrome
  • TS see Tourette syndrome
  • TSEs see Prion disease
  • Turner-like syndrome see Noonan syndrome
  • Turner syndrome in female with X chromosome see Noonan syndrome
  • Turner's phenotype, karyotype normal see Noonan syndrome


  • - U -
  • Ullrich-Noonan syndrome see Noonan syndrome


  • - V -


    - W -
  • WAGR Complex see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
  • WAGR syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
  • WBS see Williams syndrome
  • Willi-Prader syndrome see Prader-Willi syndrome
  • Williams syndrome
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
  • WMS see Williams syndrome
  • WS see Williams syndrome


  • - X -
  • X-ALD see X-linked adrenoleukodystrophy
  • X-linked adrenoleukodystrophy
  • X-linked complicated hereditary spastic paraplegia type 1 see L1 syndrome
  • X-linked corpus callosum agenesis see L1 syndrome
  • X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) see L1 syndrome
  • X-linked hyperuricemia see Lesch-Nyhan syndrome
  • X-linked mental retardation and macroorchidism see Fragile X syndrome
  • X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome
  • X-linked primary hyperuricemia see Lesch-Nyhan syndrome
  • X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome
  • 47,XX,+21 see Down syndrome
  • 47,XXX see Triple X syndrome
  • XXX syndrome see Triple X syndrome
  • 47,XY,+21 see Down syndrome
  • 47,XYY syndrome
  • XYY Karyotype see 47,XYY syndrome
  • XYY syndrome see 47,XYY syndrome


  • - Y -
  • YY syndrome see 47,XYY syndrome


  • - Z -



    The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.

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    Updated June 3, 2010. All Rights Reserved.


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