| |
Mental health and behavior
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.
-
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
-
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
-
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
-
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
-
deletion 17p syndrome see Smith-Magenis syndrome
-
22q11.2 deletion syndrome see Opitz G/BBB syndrome
-
Down syndrome
-
Elfin Facies Syndrome see Williams syndrome
-
Elfin facies with hypercalcemia see Williams syndrome
-
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
-
Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
-
Gilles de la Tourette Syndrome see Tourette syndrome
-
glycosylasparaginase deficiency see aspartylglucosaminuria
-
GTS see Tourette syndrome
-
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
-
Infantile hypercalcemia see Williams syndrome
-
Inherited Human Transmissible Spongiform Encephalopathies see prion disease
-
Jacob's syndrome see 47,XYY syndrome
-
Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
-
Juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
-
L1 syndrome
-
Lacunar Dementias see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
Lesch-Nyhan syndrome
-
LNS see Lesch-Nyhan syndrome
-
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
-
MSS see Marinesco-Sjögren syndrome
-
Multi-Infarct Dementia see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
Neuroacanthocytosis see chorea-acanthocytosis
-
Noonan syndrome
-
Opitz G/BBB syndrome
-
11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
-
partial monosomy 17p see Smith-Magenis 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
-
rec(8) syndrome see recombinant 8 syndrome
-
recombinant 8 syndrome
-
Rett syndrome
-
RSH Syndrome see Smith-Lemli-Opitz syndrome
-
RTS see Rett syndrome
-
RTT see Rett syndrome
-
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
-
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
-
Ullrich-Noonan syndrome see Noonan syndrome
-
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-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
-
YY syndrome see 47,XYY syndrome
| |