Multiple Congenital Anomaly/Mental Retardation Syndromes
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A
Aarskog syndrome
Aarskog-Scott syndrome (ASS)
abdominal muscle deficiency anomalad
abdominal muscle deficiency syndrome
abdominal musculature aplasia syndrome
abducted thumbs syndrome
Aberfeld syndrome
absence of abdominal muscle syndrome
absence of septum pellucidum with porencephalia syndrome (SASPP)
absent nails-kinesogenic choreoathetosis-epilepsy-developmental delay syndrome
abuse dwarfism syndrome
accelerated skeletal maturation, Marshall-Smith type
Accutane dysmorphic syndrome
ACD-mental retardation syndrome
acral dysostosis with facial and genital abnormalities
acro-osteolysis syndrome
acro-osteolysis-osteoporosis-changes in skull and mandible
acrocallosal syndrome (ACS)
acrocephalopolysyndactyly 2 (ACPS 2)
acrocephalosyndactyly III (ACS III)
acrodysostosis
acrodysplasia
acrodysplasia-dysostoses syndrome
acrofacial dysostosis (ACD), Catania type
acrofrontofacionasal (AFFN) dysostosis syndrome 1
acrokeratosis paraneoplastica
acromegaloid facial appearance (AFA) syndrome
acromelic frontonasal dysplasia
acromicric dysplasia
acrorenal syndrome
acroreno-ocular syndrome
Adams-Oliver syndrome
Addison disease-cerebral sclerosis syndrome
Addison disease-spastic paraplegia syndrome
Addison-Schilder syndrome
adducted thumbs syndrome
adducted thumbs-mental retardation syndrome
adenoma sebaceum
adrenocortical atrophy-cerebral sclerosis syndrome
adrenoleukodystrophy (ALD)
adrenoleukomyeloneuropathy (ALMN)
adrenomyeloneuropathy (AMN)
adult generalized gangliosidosis GM1
adult GM1 gangliosidosis
adult pseudohypertrophic muscular dystrophy
agenesis of corpus callosum-mental retardation-osseous lesions syndrome
agonadism-mental retardation-short stature-retarded bone age syndrome
agyria syndrome
agyria-pachygyria syndrome
Aicardi syndrome
Åkesson syndrome
Alagille syndrome (AGS)
Alagille-Watson syndrome (AWS)
Albright hereditary osteodystrophy (AHO)
Albright syndrome 1
alcoholic embryopathy
aldosteronism-normal blood pressure syndrome
Aldred syndrome
Alexander disease
Alexander syndrome
Allan-Herndon syndrome
Allan-Herndon-Dudley syndrome (AHDS)
alopecia universalis with mental retardation
alopecia-anosmia-deafness-hypogonadism (AADH) syndrome
alopecia-contractures-dwarfism-mental retardation syndrome
alopecia-epilepsy-oligophrenia syndrome
alopecia-mental retardation (AMR) syndrome
alopecia-mental retardation-epilepsy-microcephaly syndrome
alpha-L-fucosidase (FUCA) deficiency
alpha-L-iduronidase (IDA, IDUA) deficiency
alpha-thalassemia/mental retardation syndrome, deletion type (ATR, deletion. ATR1, ATR-16)
alpha-thalassemia/mental retardation syndrome, nondeletion type (ATR2, ATR, nondeletion)
Alport syndrome (AS, ATS)
Alport syndrome-like hereditary nephritis (ASLHN, ASLN)
Alzheimer dementia (AD)
Alzheimer disease (AD)
Alzheimer sclerosis
Alzheimer syndrome
Alzheimer-type dementia (ADT)
Alè-Calò syndrome
amaurosis congenita of Leber
aminopterin embryopathy syndrome
aminopterin fetopathy syndrome
aminopterin syndrome
aminopterin syndrome sine aminopterin (ASSAS)
aminopterin-like embryopathy
aminopterin-like syndrome
aminopterin-like syndrome without aminopterin
Amish brittle hair syndrome
Amsterdam type
amyoplasia congenita
anal-ear-renal-radial malformation syndrome
Andermann syndrome
Anderson disease
Anderson syndrome
androgen receptor (AR) deficiency
Angelman syndrome (AS)
angio-osteohypertrophy syndrome
angioma capillare et venosum calcificans
angiomatosis encephalofacialis
angiomatosis meningoulofacialis
angiomatosis-oculo-orbito-thalamo-encephalic syndrome
aniridia type II
aniridia-ambiguous genitalia-mental retardation (AGR) syndrome, triad
aniridia-cerebellar ataxia-oligophrenia syndrome
aniridia-genitourinary-abnormalities-mental retardation triad
aniridia-Wilms tumor association, syndrome (aniridia-WT association, AWTA)
aniridia-Wilms tumor-gonadoblastoma syndrome
anophthalmia-hand-foot defects-mental retardation syndrome
anophthalmia-Waardenburg syndrome
anophthalmos-limb anomalies syndrome
anophthalmos-syndactyly syndrome
anus-hand-ear syndrome
aortic arch anomaly-peculiar facies-mental retardation syndrome
aortic stenosis-corneal clouding-growth and mental retardation syndrome
Apak syndrome
aplasia axialis extracorticalis congenita
aplastic abdominal muscle syndrome
Appelt-Gerken-Lenz syndrome
apraxia-ataxia-mental deficiency syndrome
apraxia-oculomotor contractures-muscle atrophy syndrome
aprosencephaly syndrome
aprosencephaly-atelencephaly syndrome
Arakawa syndrome 1
Arakawa syndrome 2
Arkless-Graham syndrome
arrhinia-choanal atresia-microphthalmia syndrome
arteriohepatic dysplasia (AHD)
arthro-ophthalmopathia hereditaria
arthro-ophthalmopathy (AO, AOM)
arthrodento-osteodysplasia (ADOD)
arthrogryposis multiplex congenita (AMC)
arthrogryposis-ectodermal dysplasia-cleft lip/palate-developmental delay syndrome
Arts syndrome
arylsulfatase B (ARSB) deficiency
Asboe-Hansen disease
aspartylglucosamidase (AGA) deficiency
aspartylglucosaminuria (AGU)
aspartylglycosaminuria
asphyxiating thoracic chondrodystrophy
asphyxiating thoracic dystrophy (ATD)
asymmetric crying facies (ACF)
ataxia-deafness syndrome
ataxia-deafness-retardation (ADR) syndrome
ataxia-deafness-retardation syndrome with ketoaciduria
ataxia-microcephaly-cataract (AMC) syndrome
ataxia-myoclonic encephalopathy-macular degeneration-recurrent infections syndrome
atelencephalic microcephaly syndrome
Atkin-Flaitz syndrome
Atkin-Flaitz-Patil syndrome
atresia of the foramen of Luschka and Magendie
atresia of the foramen of Magendie
atrophia bulborum hereditaria
atypical chondrodystrophy
auriculobranchiogenital dysplasia
Austin syndrome
autism-dementia-ataxia-loss of purposeful hand use syndrome
autism-fragile X (AFRAX) syndrome
autosomal dominant macrocephaly syndrome
autosomal dominant Opitz syndrome (ADOS)
Axenfeld-Rieger syndrome
Date Archived: 12 December 2006
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