- A -
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency [MESH:C563876] (1)
Absent Eyebrows and Eyelashes with Mental Retardation [MESH:C563111] (1)
Acrodysostosis [MESH:C538179] (1)
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations [MESH:C563429] (1)
Akesson syndrome [MESH:C535610] (1)
Al Gazali Aziz Salem syndrome [MESH:C535613] (1)
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus [MESH:C565968] (1)
Alopecia contractures dwarfism mental retardation [MESH:C537051] (1)
Alopecia epilepsy oligophrenia syndrome of Moynahan [MESH:C537052] (1)
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome [MESH:C567425] (13)
Alopecia, epilepsy, pyorrhea, mental subnormality [MESH:C537057] (1)
Alopecia-Mental Retardation Syndrome 1 [MESH:C565965] (1)
Alopecia-Mental Retardation Syndrome 2 [MESH:C563668] (1)
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism [MESH:C563370] (1)
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type [MESH:C563050] (1)
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis [MESH:C565960] (1)
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation [MESH:C565958] (1)
Amyotrophic Dystonic Paraplegia [MESH:C566292] (1)
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome [MESH:C565796] (1)
Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)
Ansell Bywaters Elderking syndrome [MESH:C537773] (1)
Aortic arch anomaly with peculiar facies and mental retardation [MESH:C537785] (1)
Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV [MESH:C563942] (1)
Arachnodactyly ataxia cataract aminoaciduria mental retardation [MESH:C537424] (1)
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)
Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies [MESH:C565940] (1)
Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [MESH:C535385] (1)
Aughton syndrome [MESH:C538269] (1)
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation [MESH:C565923] (1)
- B -
Baraitser Rodeck Garner syndrome [MESH:C537906] (1)
Battaglia Neri syndrome [MESH:C537662] (1)
Behr syndrome [MESH:C537669] (1)
Bellini Chiumello Rimoldi syndrome [MESH:C535652] (1)
Biemond Syndrome II [MESH:C565902] (1)
Biemond syndrome type 2 [MESH:C535439] (1)
Birk-Barel Mental Retardation Dysmorphism Syndrome [MESH:C567357] (20)
Blepharophimosis syndrome Ohdo type [MESH:C536232] (1)
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation [MESH:C565797] (1)
Bohring syndrome [MESH:C537419] (26)
Boudhina Yedes Khiari syndrome [MESH:C537939] (1)
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia [MESH:C564519] (1)
Brunner Syndrome [MESH:C563156] (124)
Bullous Dystrophy, Hereditary Macular Type [MESH:C563065] (1)
- C -
CAHMR syndrome [MESH:C537959] (1)
Camera Marugo Cohen syndrome [MESH:C537964] (1)
Cantalamessa Baldini Ambrosi syndrome [MESH:C537981] (1)
Cantu Sanchez-Corona Fragoso syndrome [MESH:C535571] (1)
Cartwright Nelson Fryns syndrome [MESH:C535917] (1)
Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy [MESH:C564353] (1)
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation [MESH:C563390] (1)
Cataracts, ataxia, short stature, and mental retardation [MESH:C535345] (1)
Cephalin Lipidosis [MESH:C565872] (1)
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 [MESH:C567656] (1)
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 [MESH:C567690] (13)
Cerebral Cavernous Malformations 2 [MESH:C566394] (13)
Cerebral Cavernous Malformations 3 [MESH:C566393] (27)
Cerebrocostomandibular Syndrome [MESH:C562538] (1)
Cerebrofaciothoracic Dysplasia [MESH:C565862] (1)
Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Cerebrooculonasal Syndrome [MESH:C565313] (1)
Choroid plexus calcification with mental retardation [MESH:C535357] (1)
Chromosome 15q13.3 Microdeletion Syndrome [MESH:C567439] (1)
Chromosome 15q26-Qter Deletion Syndrome [MESH:C567232] (1)
Chromosome 17q21.31 Deletion Syndrome [MESH:C566476] (1)
Chromosome 18 Pericentric Inversion [MESH:C563734] (1)
Chromosome 1q21.1 Duplication Syndrome [MESH:C567290] (1)
Chromosome 1q43-Q44 Deletion Syndrome [MESH:C567346] (1)
Chromosome 2q31.2 Deletion Syndrome [MESH:C567344] (1)
Chromosome 2q32-Q33 Deletion Syndrome [MESH:C567350] (1)
Chromosome 3q29 Deletion Syndrome [MESH:C567184] (1)
Chromosome Xq28 Duplication Syndrome [MESH:C567580] (1)
Chudley-Rozdilsky syndrome [MESH:C535458] (1)
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
Coffin syndrome 1 [MESH:C536435] (1)
Coffin-Siris syndrome [MESH:C536436] (102)
Cohen syndrome [MESH:C536438] (21)
Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation [MESH:C565173] (1)
Coloboma, cleft lip/palate and mental retardation syndrome [MESH:C535971] (1)
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome [MESH:C566623] (1)
Convulsive Disorder, Familial, with Prenatal or Early Onset [MESH:C565678] (1)
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia [MESH:C564509] (13)
Cortical Blindness, Retardation, and Postaxial Polydactyly [MESH:C565674] (1)
Craniofaciofrontodigital Syndrome [MESH:C567298] (1)
Craniosynostosis Mental Retardation Clefting Syndrome [MESH:C565663] (1)
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig [MESH:C565664] (1)
Cree Mental Retardation Syndrome [MESH:C564654] (1)
Cri-du-Chat Syndrome [MESH:D003410] (139)
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly [MESH:C563840] (1)
Cubitus Valgus with Mental Retardation and Unusual Facies [MESH:C564510] (1)
Curatolo Cilio Pessagno syndrome [MESH:C536701] (1)
Cutis Verticis Gyrata and Mental Deficiency [MESH:C565661] (1)
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality [MESH:C565658] (1)
- D -
Davis Lafer syndrome [MESH:C535989] (1)
De Barsy syndrome [MESH:C535990] (1)
De Lange Syndrome [MESH:D003635] (55)
De Sanctis-Cacchione syndrome [MESH:C535992] (27)
Deafness, Cochlear, with Myopia and Intellectual Impairment [MESH:C565645] (1)
Deafness, congenital onychodystrophy, recessive form [MESH:C538204] (1)
Devriendt syndrome [MESH:C535947] (1)
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification [MESH:C565632] (1)
Dicarboxylicaminoaciduria [MESH:C536171] (1)
Digitorenocerebral Syndrome [MESH:C563052] (1)
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation [MESH:C566408] (1)
Down Syndrome [MESH:D004314] (1287)
Dubowitz syndrome [MESH:C535718] (1)
Duker Weiss Siber syndrome [MESH:C535719] (1)
Duplication 15q11-q13 Syndrome [MESH:C557830] (1)
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone [MESH:C565615] (1)
Dyggve-Melchior-Clausen syndrome [MESH:C535726] (19)
Dysequilibrium syndrome [MESH:C535731] (83)
Dysmyelination With Jaundice [MESH:C565610] (1)
- E -
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum [MESH:C565605] (1)
Ectodermal dysplasia mental retardation syndactyly [MESH:C538018] (1)
Elliott Ludman Teebi syndrome [MESH:C536204] (1)
Emanuel syndrome [MESH:C535733] (1)
Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation [MESH:C566519] (1)
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration [MESH:C565594] (1)
Epidermolysis bullosa, late-onset localized junctional, with mental retardation [MESH:C535492] (1)
Epilepsy telangiectasia [MESH:C535497] (1)
Epilepsy, Female-Restricted, with Mental Retardation [MESH:C564715] (1)
Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation [MESH:C565587] (1)
Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70)
- F -
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation [MESH:C565580] (1)
Faciocardiomelic Syndrome [MESH:C567176] (1)
Fallot complex with severe mental and growth retardation [MESH:C536608] (1)
Feingold Trainer syndrome [MESH:C536179] (1)
Fg Syndrome 5 [MESH:C564480] (1)
Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation [MESH:C565331] (1)
Filippi syndrome [MESH:C538152] (1)
Fine-Lubinsky syndrome [MESH:C537933] (1)
Fitzsimmons Walson Mellor syndrome [MESH:C537937] (1)
Fitzsimmons-McLachlan-Gilbert syndrome [MESH:C537058] (1)
Fountain syndrome [MESH:C537270] (1)
Fryns-Aftimos Syndrome [MESH:C565258] (1)
- G -
Garret Tripp syndrome [MESH:C535646] (1)
Genitopatellar Syndrome [MESH:C565255] (1)
Goniodysgenesis-Mental Retardation-Short Stature Syndrome [MESH:C564214] (1)
Growth Deficiency and Mental Retardation with Facial Dysmorphism [MESH:C565358] (1)
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy [MESH:C564264] (1)
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia [MESH:C565755] (1)
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [MESH:C537405] (1)
Growth mental deficiency syndrome of Myhre [MESH:C537620] (51)
Gurrieri Sammito Bellussi syndrome [MESH:C537625] (1)
- H -
Hair defect with photosensitivity and mental retardation [MESH:C537628] (1)
Hall Riggs mental retardation syndrome [MESH:C535623] (1)
Harrod Doman Keele syndrome [MESH:C535635] (1)
Haspeslagh Fryns Muelenaere syndrome [MESH:C535844] (1)
Histidinemia [MESH:C538320] (87)
Hittner Hirsch Kreh syndrome [MESH:C538323] (1)
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate [MESH:C564484] (1)
Hooft disease [MESH:C535329] (1)
Hordnes Engebretsen Knudtson syndrome [MESH:C536067] (1)
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
Hunter-McAlpine syndrome [MESH:C536072] (1)
Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation [MESH:C565736] (1)
Hydroxylysinuria [MESH:C565502] (1)
Hyperleucine-Isoleucinemia [MESH:C562674] (1)
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria [MESH:C565499] (1)
Hyperphosphatasia with Mental Retardation [MESH:C565495] (1)
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility [MESH:C566988] (1)
Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features [MESH:C538391] (1)
Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase [MESH:C565489] (1)
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly [MESH:C565482] (1)
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies [MESH:C564406] (1)
Hypoparathyroidism-retardation-dysmorphism syndrome [MESH:C537157] (24)
Hypospadias-Mental Retardation Syndrome [MESH:C563067] (1)
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
- I -
Ichthyosis and male hypogonadism [MESH:C537365] (1)
Ichthyosis, mental retardation, dwarfism, and renal impairment [MESH:C536274] (1)
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin [MESH:C563402] (1)
Indolylacroyl Glycinuria with Mental Retardation [MESH:C565466] (1)
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation [MESH:C565462] (1)
- J -
Jagell Holmgren Hofer syndrome [MESH:C537364] (1)
Johanson Blizzard syndrome [MESH:C535880] (17)
Joubert Syndrome 7 [MESH:C566916] (11)
Joubert Syndrome 9 [MESH:C567364] (6)
- K -
KBG syndrome [MESH:C537015] (1)
Kahrizi Syndrome [MESH:C567196] (1)
Kaler Garrity Stern syndrome [MESH:C537706] (1)
Kapur Toriello syndrome [MESH:C537008] (1)
Karandikar Maria Kamble syndrome [MESH:C537009] (1)
Katsantoni Papadakou Lagoyanni syndrome [MESH:C537012] (1)
Kaufman oculocerebrofacial syndrome [MESH:C537013] (1)
Kleefstra Syndrome [MESH:C563043] (25)
Koone Rizzo Elias syndrome [MESH:C537023] (1)
Kosztolanyi syndrome [MESH:C537024] (1)
Kozlowski Ouvrier syndrome [MESH:C537508] (1)
Kozlowski Rafinski Klicharska syndrome [MESH:C537509] (1)
Kozlowski-Krajewska syndrome [MESH:C537615] (1)
Kuzniecky syndrome [MESH:C538091] (1)
- L -
Lambert syndrome [MESH:C538396] (1)
Lenz Majewski hyperostotic dwarfism [MESH:C537115] (1)
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis [MESH:C565440] (1)
Light Fixation Seizure Syndrome [MESH:C566367] (1)
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity [MESH:C565438] (1)
Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones [MESH:C564283] (1)
Lissencephaly 3 [MESH:C566908] (1)
Lowry Maclean syndrome [MESH:C537037] (1)
Lowry Wood syndrome [MESH:C537038] (1)
Lubani Al Saleh Teebi syndrome [MESH:C537039] (1)
Lynch Lee Murday syndrome [MESH:C537713] (1)
|
- M -
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
MOMES Syndrome [MESH:C564660] (1)
MORM syndrome [MESH:C536984] (15)
Macrogyria, pseudobulbar palsy and mental retardation [MESH:C537722] (1)
Macrosomia obesity macrocephaly ocular abnormalities [MESH:C535812] (1)
Male pseudohermaphroditism/mental retardation syndrome, Verloes type [MESH:C535693] (1)
Mandibulofacial Dysostosis with Mental Deficiency [MESH:C565420] (1)
Marfanoid Mental Retardation Syndrome, Autosomal [MESH:C565410] (1)
Marinesco-Sjogren-like syndrome (MSLS) [MESH:C535913] (1)
Martin-Probst Deafness-Mental Retardation Syndrome [MESH:C564495] (1)
Martsolf syndrome [MESH:C536028] (21)
McDonough syndrome [MESH:C538158] (1)
Mental Retardation associated with Psoriasis [MESH:C564107] (1)
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature [MESH:C563810] (1)
Mental Retardation with Spastic Paraplegia [MESH:C564099] (1)
Mental Retardation, Autosomal Dominant 1 [MESH:C566947] (12)
Mental Retardation, Autosomal Dominant 3 [MESH:C567241] (14)
Mental Retardation, Autosomal Dominant 4 [MESH:C567240] (9)
Mental Retardation, Autosomal Dominant 5 [MESH:C567234] (8)
Mental Retardation, Autosomal Recessive 1 [MESH:C565406] (19)
Mental Retardation, Autosomal Recessive 10 [MESH:C567013] (1)
Mental Retardation, Autosomal Recessive 11 [MESH:C567012] (1)
Mental Retardation, Autosomal Recessive 12 [MESH:C567019] (1)
Mental Retardation, Autosomal Recessive 13 [MESH:C567714] (16)
Mental Retardation, Autosomal Recessive 2 [MESH:C564404] (20)
Mental Retardation, Autosomal Recessive 3 [MESH:C563929] (9)
Mental Retardation, Autosomal Recessive 4 [MESH:C567008] (3)
Mental Retardation, Autosomal Recessive 5 [MESH:C567018] (1)
Mental Retardation, Autosomal Recessive 6 [MESH:C567017] (30)
Mental Retardation, Autosomal Recessive 7 [MESH:C567016] (29)
Mental Retardation, Autosomal Recessive 8 [MESH:C567015] (1)
Mental Retardation, Autosomal Recessive 9 [MESH:C567014] (1)
Mental Retardation, Buenos Aires Type [MESH:C563095] (1)
Mental Retardation, Fra12a Type [MESH:C566980] (15)
Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities [MESH:C567209] (1)
Mental Retardation, Microcephaly, Epilepsy, And Coarse Face [MESH:C563342] (1)
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism [MESH:C565246] (1)
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration [MESH:C566429] (1)
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations [MESH:C565248] (1)
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy [MESH:C564101] (1)
Mental Retardation, X-Linked [MESH:D038901] (1854)
Mental Retardation, X-Linked, Syndromic 12 [MESH:C564106] (1)
Mental Retardation, X-Linked, Syndromic, Christianson Type [MESH:C567484] (13)
Mental Retardation, X-Linked, Syndromic, Turner Type [MESH:C567476] (18)
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related [MESH:C567586] (1)
Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)
Mental Retardation, X-Linked, Znf711-Related [MESH:C567583] (1)
Mental and Growth Retardation with Amblyopia [MESH:C563591] (1)
Mental retardation Mietens Weber type [MESH:C537444] (1)
Mental retardation Smith Fineman Myers type [MESH:C537445] (1)
Mental retardation Wolff type [MESH:C537448] (1)
Mental retardation spasticity ectrodactyly [MESH:C537446] (1)
Mental retardation syndrome, Belgian type [MESH:C537447] (1)
Mental retardation, keratoconus, febrile seizures, and sinoatrial block [MESH:C537452] (1)
Mental retardation, macrocephaly, short stature and craniofacial dysmorphism [MESH:C537453] (1)
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness [MESH:C565396] (1)
Methionine Malabsorption Syndrome [MESH:C562682] (1)
Microcephalic primordial dwarfism Toriello type [MESH:C537321] (1)
Microcephaly cervical spine fusion anomalies [MESH:C537325] (1)
Microcephaly deafness syndrome [MESH:C537326] (1)
Microcephaly seizures mental retardation heart disorders [MESH:C537544] (1)
Microcephaly sparse hair mental retardation seizures [MESH:C537545] (1)
Microcephaly with Mental Retardation and Digital Anomalies [MESH:C567101] (1)
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation [MESH:C566361] (1)
Microcephaly, Macrotia, And Mental Retardation [MESH:C566525] (1)
Microcephaly, corpus callosum dysgenesis and cleft lip-palate [MESH:C537547] (1)
Microphthalmia and mental deficiency [MESH:C537462] (1)
Mirhosseini-Holmes-Walton syndrome [MESH:C538367] (1)
Mohr-Tranebjaerg syndrome [MESH:C535808] (21)
Mollica Pavone Antener syndrome [MESH:C535809] (1)
Morillo-Cucci Passarge syndrome [MESH:C536983] (1)
Mowat-Wilson syndrome [MESH:C536990] (37)
Muscular Dystrophy, Congenital, Type 1D [MESH:C563844] (1)
Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation [MESH:C565506] (1)
Muscular Dystrophy, Congenital, plus Mental Retardation [MESH:C565505] (1)
Myotonia with Skeletal Abnormalities and Mental Retardation [MESH:C564967] (1)
- N -
N syndrome [MESH:C536108] (1)
NF1 Microdeletion Syndrome [MESH:C563524] (1)
NF1 Microduplication Syndrome [MESH:C567173] (1)
Nakamura Osame syndrome [MESH:C538335] (1)
Neuhauser syndrome [MESH:C536143] (1)
Neurofaciodigitorenal syndrome [MESH:C537388] (1)
Neurologic Disease, Infantile Multisystem, with Osseous Fragility [MESH:C564954] (1)
Nicolaides Baraitser syndrome [MESH:C536116] (40)
- O -
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)
Oliver Syndrome [MESH:C564931] (1)
Oliver-McFarlane syndrome [MESH:C536554] (1)
Onychotrichodysplasia and neutropenia [MESH:C537752] (1)
Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency [MESH:C563498] (1)
Opitz trigonocephaly syndrome [MESH:C537418] (1)
Osteolysis syndrome recessive [MESH:C536052] (1)
- P -
Palant cleft palate syndrome [MESH:C538102] (1)
Pallister W syndrome [MESH:C538106] (1)
Parastremmatic dwarfism [MESH:C537172] (39)
Parkinsonism, early onset with mental retardation [MESH:C537179] (1)
Pashayan syndrome [MESH:C536303] (1)
Patella hypoplasia mental retardation [MESH:C536308] (1)
Pavone Fiumara Rizzo syndrome [MESH:C536313] (1)
Perisylvian syndrome [MESH:C536658] (19)
Perniola Krajewska Carnevale syndrome [MESH:C536660] (1)
Pfeiffer Kapferer syndrome [MESH:C537887] (1)
Pfeiffer Mayer syndrome [MESH:C537888] (1)
Pfeiffer Tietze Welte syndrome [MESH:C537891] (1)
Pilotto syndrome [MESH:C537400] (1)
Pitt-Hopkins syndrome [MESH:C537403] (113)
Piussan Lenaerts Mathieu syndrome [MESH:C537511] (1)
Prader-Willi Syndrome [MESH:D011218] (46)
Primrose syndrome [MESH:C536420] (1)
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation [MESH:C564207] (1)
Proud Syndrome [MESH:C563110] (12)
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness [MESH:C562894] (1)
Pseudoaminopterin syndrome [MESH:C535823] (1)
Pseudouridinuria and Mental Defect [MESH:C564864] (1)
Pterygium colli mental retardation digital anomalies [MESH:C535831] (1)
- Q -
Qazi Markouizos syndrome [MESH:C536259] (1)
- R -
Radioulnar synostosis retinal pigment abnormalities [MESH:C536270] (1)
Ramon Syndrome [MESH:C535285] (1)
Ramos Arroyo Clark syndrome [MESH:C535286] (1)
Reardon Wilson Cavanagh syndrome [MESH:C535295] (1)
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism [MESH:C564841] (1)
Richards-Rundle syndrome [MESH:C535674] (1)
Robin Sequence with Distinctive Facial Appearance and Brachydactyly [MESH:C563880] (1)
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant [MESH:C563392] (1)
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked [MESH:C564467] (19)
Rubinstein-Taybi Syndrome [MESH:D012415] (149)
Rud Syndrome [MESH:C535878] (1)
Ruzicka Goerz Anton syndrome [MESH:C537192] (1)
- S -
SCARF syndrome [MESH:C536625] (1)
Sammartino De Crecchio Syndrome [MESH:C537229] (1)
Sao Paulo MCA/MR Syndrome [MESH:C563119] (1)
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
Schinzel-Giedion syndrome [MESH:C536632] (16)
Schofer Beetz Bohl syndrome [MESH:C535949] (1)
Scholte syndrome [MESH:C536638] (1)
Schrander-Stumpel Theunissen Hulsmans syndrome [MESH:C536639] (1)
Sclerosing bone dysplasia mental retardation [MESH:C537523] (1)
Scott Bryant Graham syndrome [MESH:C537528] (1)
SeSAME syndrome [MESH:C557674] (1)
Seckel Syndrome 3 [MESH:C563881] (1)
Seemanova Lesny syndrome [MESH:C537536] (1)
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting [MESH:C566989] (1)
Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)
Singh Chhaparwal Dhanda syndrome [MESH:C537341] (1)
Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)
Sketetal dysplasia coarse facies mental retardation [MESH:C536671] (1)
Spastic Ataxia [MESH:C564815] (1)
Spastic Paraplegia 18, Autosomal Recessive [MESH:C567628] (1)
Spastic Paraplegia 32, Autosomal Recessive [MESH:C566983] (1)
Spastic Paraplegia, Ataxia, And Mental Retardation [MESH:C564378] (1)
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy [MESH:C566682] (1)
Spastic Paresis, Glaucoma, and Mental Retardation [MESH:C564809] (1)
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation [MESH:C564808] (1)
Spastic diplegia infantile type [MESH:C537481] (1)
Spastic paraplegia 14, autosomal recessive [MESH:C537486] (1)
Spastic paraplegia epilepsy mental retardation [MESH:C536869] (1)
Spinal Muscular Atrophy with Mental Retardation [MESH:C564807] (1)
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality [MESH:C564806] (1)
Spondyloepimetaphyseal dysplasia, Genevieve type [MESH:C535785] (1)
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation [MESH:C564796] (1)
Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation [MESH:C566515] (1)
Stevenson-Carey Syndrome [MESH:C567446] (1)
Sucrosuria, Hiatus Hernia and Mental Retardation [MESH:C564792] (1)
- T -
Tamari Goodman syndrome [MESH:C536896] (1)
Temple-Baraitser Syndrome [MESH:C567516] (1)
Temtamy preaxial brachydactyly syndrome [MESH:C536958] (1)
Tetrasomy X [MESH:C536502] (1)
Tonoki syndrome [MESH:C536967] (1)
Trichodental syndrome [MESH:C536551] (1)
Tryptophanuria With Dwarfism [MESH:C562658] (1)
Tsukahara Syndrome [MESH:C566376] (1)
- U -
Ulna hypoplasia with mental retardation [MESH:C536934] (1)
Ulnar Hypoplasia with Mental Retardation [MESH:C564757] (1)
Upton Young syndrome [MESH:C536473] (1)
- V -
Van Bogaert-Hozay syndrome [MESH:C536526] (1)
Van Den Bosch Syndrome [MESH:C563129] (1)
Van Maldergem Wetzburger Verloes syndrome [MESH:C536530] (1)
Vasquez Hurst Sotos syndrome [MESH:C536533] (1)
Verloes Gillerot Fryns syndrome [MESH:C536539] (1)
Viljoen Kallis Voges syndrome [MESH:C536349] (1)
Vitiligo, Progressive, with Mental Retardation and Urethral Duplication [MESH:C564739] (1)
Volcke Soekarman syndrome [MESH:C537718] (1)
- W -
WAGR Syndrome [MESH:D017624] (270)
Walker Dyson syndrome [MESH:C536568] (1)
Warburg Sjo Fledelius syndrome [MESH:C536681] (15)
Warburton Anyane Yeboa syndrome [MESH:C536682] (1)
Wiedemann Grosse Dibbern syndrome [MESH:C536704] (1)
Wiedemann Oldigs Oppermann syndrome [MESH:C536705] (1)
Williams Syndrome [MESH:D018980] (133)
Winship Viljoen Leary syndrome [MESH:C536711] (1)
Woodhouse Sakati syndrome [MESH:C536742] (6)
Worster Drought syndrome [MESH:C536747] (1)
- Y -
Yorifuji Okuno syndrome [MESH:C536714] (1)
Young Hughes syndrome [MESH:C536715] (1)
Young Simpson syndrome [MESH:C536717] (1)
- Z -
Zazam Sheriff Phillips syndrome [MESH:C536723] (1)
Zechi-Ceide Syndrome [MESH:C567865] (1)
Zerres Rietschel Majewski syndrome [MESH:C536724] (1)
Zlotogora-Ogur syndrome [MESH:C536726] (25)
Zunich neuroectodermal syndrome [MESH:C536729] (1)
- other -
15q24 Microdeletion [MESH:C579849] (1)
16p11.2 Deletion Syndrome [MESH:C579850] (1)
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