Young Hughes syndrome - Ontology Browser - Rat Genome Database

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ONTOLOGY BROWSER

Term:	Young Hughes syndrome	go back to main search page
Accession:	RDO:0002376	browse the term
Synonyms:	exact_synonym:	Sex-linked mental retardation, short stature, obesity and hypogonadism
	primary_id:	MESH:C536715

Parent Terms	Term With Siblings	Child Terms
Growth Disorders + Hypogonadism + Intellectual Disability + Obesity + Sex Chromosome Aberrations +	49,XXXXX syndrome Absent Eyebrows and Eyelashes with Mental Retardation Acrocapitofemoral Dysplasia Acrocephalopolydactylous Dysplasia Acrodysostosis Acromegaloid features, overgrowth, cleft palate, and hernia ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency Akesson syndrome Al Gazali Aziz Salem syndrome Al Gazali Khidr Prem Chandran syndrome Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Alopecia contractures dwarfism mental retardation Alopecia epilepsy oligophrenia syndrome of Moynahan Alopecia hypogonadism extrapyramidal disorder Alopecia, epilepsy, pyorrhea, mental subnormality Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental Retardation Syndrome 2 ALOPECIA-MENTAL RETARDATION SYNDROME 3 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis Amish Brittle Hair Brain Syndrome Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation Amyotrophic Dystonic Paraplegia Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome Aniridia cerebellar ataxia mental deficiency Ansell Bywaters Elderking syndrome Aortic arch anomaly with peculiar facies and mental retardation Aphalangia syndactyly microcephaly Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV Arachnodactyly ataxia cataract aminoaciduria mental retardation Arginine:Glycine Amidinotransferase Deficiency Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies Aughton syndrome Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation Auriculoosteodysplasia Ayazi syndrome Baraitser Rodeck Garner syndrome Bassoe syndrome Battaglia Neri syndrome Behr syndrome Bellini Chiumello Rimoldi syndrome Berk-Tabatznik syndrome Bhaskar Jagannathan syndrome Biemond Syndrome II Biemond syndrome type 2 Birk-Barel Mental Retardation Dysmorphism Syndrome Blepharophimosis syndrome Ohdo type Blepharophimosis with Facial and Genital Anomalies and Mental Retardation Blepharophimosis with ptosis, syndactyly, and short stature BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 Bohring syndrome Borjeson-Forssman-Lehmann syndrome Boudhina Yedes Khiari syndrome BRACHYDACTYLY, TYPE E2 Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia Brooks-Wisniewski-Brown Syndrome Brunner Syndrome Bullous Dystrophy, Hereditary Macular Type CAHMR syndrome Camera Marugo Cohen syndrome Cantalamessa Baldini Ambrosi syndrome Cantu Sanchez-Corona Fragoso syndrome Cardiomyopathy hypogonadism collagenoma syndrome Cartwright Nelson Fryns syndrome Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy Cataracts, ataxia, short stature, and mental retardation Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation Cephalin Lipidosis Cerebellar Ataxia and Hypergonadotropic Hypogonadism Cerebellar Ataxia and Hypogonadotropic Hypogonadism Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Cerebral Cavernous Malformations 2 Cerebral Cavernous Malformations 3 Cerebrocostomandibular Syndrome Cerebrofaciothoracic Dysplasia Cerebrooculofacioskeletal Syndrome 2 Cerebrooculofacioskeletal Syndrome 4 Cerebrooculonasal Syndrome Chang Davidson Carlson syndrome CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies Chitty Hall Baraitser syndrome Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism Choroid plexus calcification with mental retardation CHROMOSOME 13q14 DELETION SYNDROME Chromosome 15q13.3 Microdeletion Syndrome Chromosome 15q26-Qter Deletion Syndrome CHROMOSOME 17p13.1 DELETION SYNDROME Chromosome 17q21.31 Deletion Syndrome Chromosome 18 Pericentric Inversion Chromosome 1q21.1 Duplication Syndrome Chromosome 1q43-Q44 Deletion Syndrome Chromosome 2q31.2 Deletion Syndrome Chromosome 2q32-Q33 Deletion Syndrome Chromosome 2q37 deletion syndrome CHROMOSOME 3pter-p25 DELETION SYNDROME Chromosome 3q29 Deletion Syndrome CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB CHROMOSOME 8q21.11 DELETION SYNDROME Chromosome Xq duplication syndrome Chromosome Xq28 Duplication Syndrome Chudley-Rozdilsky syndrome Clark-Baraitser syndrome Cleft Palate, Isolated, And Mental Retardation CODAS syndrome Coffin syndrome 1 Coffin-Siris syndrome Cohen syndrome Coloboma, cleft lip/palate and mental retardation syndrome Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome Congenital Disorder Of Glycosylation, Type II Congenital Disorder Of Glycosylation, Type IIG Contractures ectodermal dysplasia cleft lip palate Convulsive Disorder, Familial, with Prenatal or Early Onset Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Cortical Blindness, Retardation, and Postaxial Polydactyly Cote Katsantoni syndrome COUSIN SYNDROME Coxoauricular Syndrome Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation Craniofaciofrontodigital Syndrome Craniosynostosis Mental Retardation Clefting Syndrome Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age Cree Mental Retardation Syndrome Cri-du-Chat Syndrome + Crumpled helices and small mouth Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Cubitus Valgus with Mental Retardation and Unusual Facies Curatolo Cilio Pessagno syndrome Cutis Verticis Gyrata and Mental Deficiency Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality Daish Hardman Lamont syndrome Davis Lafer syndrome De Barsy syndrome De Lange Syndrome + De Sanctis-Cacchione syndrome Deafness, Cochlear, with Myopia and Intellectual Impairment Deafness, congenital onychodystrophy, recessive form Deafness-Hypogonadism Syndrome Dermoids of cornea Devriendt syndrome Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification Dicarboxylicaminoaciduria Digitorenocerebral Syndrome Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation Down Syndrome + Dubowitz syndrome Duker Weiss Siber syndrome Duplication 15q11-q13 Syndrome Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone Dyggve-Melchior-Clausen syndrome Dyschondrosteosis and Nephritis Dysequilibrium syndrome Dysmyelination With Jaundice Ectodermal dysplasia mental retardation syndactyly Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum Elliott Ludman Teebi syndrome Emanuel syndrome Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration Encephalopathy, Spastic Tetraparesis, and Hypogonadism Epidermolysis bullosa, late-onset localized junctional, with mental retardation Epilepsy telangiectasia Epilepsy, Female-Restricted, with Mental Retardation Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9 Epileptic encephalopathy, Lennox-Gastaut type Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract Eunuchism + Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly Facial Abnormalities, Kyphoscoliosis, and Mental Retardation Faciocardiomelic Syndrome Fallot complex with severe mental and growth retardation FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 Feingold Trainer syndrome Fetal Growth Retardation + Fg Syndrome 5 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation Filippi syndrome Fine-Lubinsky syndrome Fitzsimmons Walson Mellor syndrome Fitzsimmons-McLachlan-Gilbert syndrome Floating-harbor syndrome FORSYTHE-WAKELING SYNDROME Fountain syndrome Frias syndrome FRONTONASAL DYSPLASIA 3 Fryns-Aftimos Syndrome Game Friedman Paradice syndrome Garret Tripp syndrome Gay Feinmesser Cohen syndrome GELEOPHYSIC DYSPLASIA 1 GEMSS syndrome Genitopatellar Syndrome GOMBO syndrome Gomez Lopez Hernandez syndrome Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis Goniodysgenesis-Mental Retardation-Short Stature Syndrome Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Growth Deficiency and Mental Retardation with Facial Dysmorphism Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Growth mental deficiency syndrome of Myhre Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy Growth Retardation, Small and Puffy Hands and Feet, and Eczema Gurrieri Sammito Bellussi syndrome Hair defect with photosensitivity and mental retardation Hairy elbows Hall Riggs mental retardation syndrome Harrod Doman Keele syndrome Haspeslagh Fryns Muelenaere syndrome Heme Oxygenase 1 Deficiency Hersh Podruch Weisskopk syndrome Histidinemia Hittner Hirsch Kreh syndrome Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate Hooft disease Hordnes Engebretsen Knudtson syndrome Hoyeraal Hreidarsson syndrome Hunter-McAlpine syndrome Hutterite cerebroosteonephrodysplasia syndrome Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation Hydroxylysinuria Hypergonadotropic Hypogonadism And Partial Alopecia Hyperleucine-Isoleucinemia Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria Hyperphosphatasia with Mental Retardation HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase Hypogonadism and Testicular Atrophy Hypogonadism with Low-Grade Mental Deficiency and Microcephaly Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies Hypoparathyroidism-retardation-dysmorphism syndrome Hypospadias-Mental Retardation Syndrome Hypotonia-Cystinuria Syndrome Ichthyosis and male hypogonadism Ichthyosis, mental retardation, dwarfism, and renal impairment Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin Idiopathic Hypogonadotropic Hypogonadism Indolylacroyl Glycinuria with Mental Retardation Insulin-Like Growth Factor I Deficiency Insulin-Like Growth Factor I, Resistance To Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation JACOBSEN SYNDROME Jagell Holmgren Hofer syndrome JAWAD SYNDROME Johanson Blizzard syndrome Johnson neuroectodermal syndrome Jorgenson Lenz syndrome Joubert Syndrome 7 Joubert Syndrome 9 Kahrizi Syndrome Kaler Garrity Stern syndrome Kallmann Syndrome + Kapur Toriello syndrome Karandikar Maria Kamble syndrome Katsantoni Papadakou Lagoyanni syndrome Kaufman oculocerebrofacial syndrome KBG syndrome Kleefstra Syndrome Klinefelter Syndrome + Koone Rizzo Elias syndrome Kosztolanyi syndrome Kozlowski Ouvrier syndrome Kozlowski Rafinski Klicharska syndrome Kozlowski-Krajewska syndrome Krause-Kivlin syndrome Kuster Majewski Hammerstein syndrome Kuzniecky syndrome L-2-HYDROXYGLUTARIC ACIDURIA Ladda Zonana Ramer syndrome Lambert syndrome Langer mesomelic dysplasia Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy Lenz Majewski hyperostotic dwarfism Leri-Weil syndrome Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis LIG4 Syndrome Light Fixation Seizure Syndrome Limb Defects, Distal Transverse, with Mental Retardation and Spasticity Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones Lissencephaly 3 Lowry Maclean syndrome Lowry Wood syndrome Lubani Al Saleh Teebi syndrome Lubinsky syndrome Lynch Lee Murday syndrome Macrogyria, pseudobulbar palsy and mental retardation Macrosomia Adiposa Congenita Macrosomia obesity macrocephaly ocular abnormalities Madelung Deformity Male pseudohermaphroditism/mental retardation syndrome, Verloes type Male sterility due to Y-chromosome deletions Malocclusion and Short Stature Malouf syndrome Mandibulofacial Dysostosis with Mental Deficiency Marfanoid Mental Retardation Syndrome, Autosomal Marinesco-Sjogren-like syndrome (MSLS) Martin-Probst Deafness-Mental Retardation Syndrome Martsolf syndrome MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome McDonough syndrome Megarbane syndrome MEHMO syndrome Meier-Gorlin syndrome Mental and Growth Retardation with Amblyopia Mental Retardation associated with Psoriasis Mental retardation Mietens Weber type Mental retardation Smith Fineman Myers type Mental retardation spasticity ectrodactyly Mental retardation syndrome, Belgian type MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature Mental Retardation with Spastic Paraplegia Mental retardation Wolff type MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Mental Retardation, Autosomal Dominant 1 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 Mental Retardation, Autosomal Dominant 3 Mental Retardation, Autosomal Dominant 4 Mental Retardation, Autosomal Dominant 5 Mental Retardation, Autosomal Recessive 1 Mental Retardation, Autosomal Recessive 10 Mental Retardation, Autosomal Recessive 11 Mental Retardation, Autosomal Recessive 12 Mental Retardation, Autosomal Recessive 13 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17 Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 3 Mental Retardation, Autosomal Recessive 4 Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Recessive 6 Mental Retardation, Autosomal Recessive 7 Mental Retardation, Autosomal Recessive 8 Mental Retardation, Autosomal Recessive 9 Mental Retardation, Buenos Aires Type Mental Retardation, Fra12a Type Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities Mental retardation, keratoconus, febrile seizures, and sinoatrial block Mental retardation, macrocephaly, short stature and craniofacial dysmorphism Mental Retardation, Microcephaly, Epilepsy, And Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation, X-Linked + Mental Retardation, X-Linked, Syndromic 12 Mental Retardation, X-Linked, Syndromic, Christianson Type Mental Retardation, X-Linked, Syndromic, Turner Type Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related Mental Retardation, X-Linked, With Panhypopituitarism Mental Retardation, X-Linked, with Short Stature MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT Mental Retardation, X-Linked, Znf711-Related Mental retardation-hypotonic facies syndrome, x-linked, 1 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness Methionine Malabsorption Syndrome Microcephalic primordial dwarfism Toriello type Microcephaly cervical spine fusion anomalies Microcephaly deafness syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly seizures mental retardation heart disorders Microcephaly sparse hair mental retardation seizures Microcephaly with Mental Retardation and Digital Anomalies Microcephaly, corpus callosum dysgenesis and cleft lip-palate Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation Microcephaly, Macrotia, And Mental Retardation MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS Microdontia hypodontia short stature Microphthalmia and mental deficiency Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia Milner Khallouf Gibson syndrome Mineralocorticoid Deficiency, Isolated Mirhosseini-Holmes-Walton syndrome Mitochondrial myopathy with lactic acidosis Moebius axonal neuropathy hypogonadism Mohr-Tranebjaerg syndrome Mollica Pavone Antener syndrome MOMES Syndrome Morillo-Cucci Passarge syndrome MORM syndrome Mowat-Wilson syndrome MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation Muscular dystrophy, congenital, infantile with cataract and hypogonadism Muscular Dystrophy, Congenital, plus Mental Retardation Muscular Dystrophy, Congenital, Type 1D Muscular Dystrophy, Limb-Girdle, Type 2K MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay Myopathy, Cataract, Hypogonadism Syndrome Myotonia with Skeletal Abnormalities and Mental Retardation N syndrome Nakamura Osame syndrome Nathalie syndrome Neuhauser syndrome Neurofaciodigitorenal syndrome Neurologic Disease, Infantile Multisystem, with Osseous Fragility NF1 Microdeletion Syndrome NF1 Microduplication Syndrome Nicolaides Baraitser syndrome Nijmegen Breakage Syndrome-Like Disorder Obesity Hypoventilation Syndrome Obesity, Abdominal Obesity, Hyperphagia, and Developmental Delay Obesity, Morbid Oculodigitoesophagoduodenal syndrome Oliver Syndrome Oliver-McFarlane syndrome Omodysplasia type 1 Onat syndrome Onychotrichodysplasia and neutropenia Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency Opitz trigonocephaly syndrome OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Osteolysis syndrome recessive PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Palant cleft palate syndrome Pallister W syndrome Parastremmatic dwarfism Parkinsonism, early onset with mental retardation Partington Anderson syndrome Pashayan syndrome Patella hypoplasia mental retardation Pavone Fiumara Rizzo syndrome Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails Perisylvian syndrome Perniola Krajewska Carnevale syndrome Petty Laxova Wiedemann syndrome Pfeiffer Kapferer syndrome Pfeiffer Mayer syndrome Pfeiffer Palm Teller syndrome Pfeiffer Tietze Welte syndrome Pili torti developmental delay neurological abnormalities Pilotto syndrome Pitt-Hopkins syndrome Piussan Lenaerts Mathieu syndrome place Polydysspondyly Prader-Willi Syndrome + Premature aging, Okamoto type Premature Chromosome Condensation with Microcephaly and Mental Retardation Primrose syndrome Progeria short stature pigmented nevi Progeroid Syndrome, Congenital, Petty Type Progressive External Ophthalmoplegia With Hypogonadism Prolactin Deficiency with Obesity and Enlarged Testes Prolonged Bleeding Time, Brachydactyly, and Mental Retardation Proopiomelanocortin Deficiency Proprotein Convertase 1 3 Deficiency PROPROTEIN CONVERTASE 1/3 DEFICIENCY Proud Syndrome Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness Pseudoaminopterin syndrome Pseudouridinuria and Mental Defect Pterygium colli mental retardation digital anomalies Pygmy Qazi Markouizos syndrome Radioulnar synostosis retinal pigment abnormalities RAJAB SYNDROME Ramon Syndrome Ramos Arroyo Clark syndrome Reardon Wilson Cavanagh syndrome Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa Richards-Rundle syndrome Robin Sequence with Distinctive Facial Appearance and Brachydactyly Rodrigues blindness Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Rommen Mueller Sybert syndrome Rowley-Rosenberg syndrome Rubinstein-Taybi Syndrome + Rud Syndrome Ruzicka Goerz Anton syndrome Sammartino De Crecchio Syndrome Sao Paulo MCA/MR Syndrome Say Meyer syndrome Say syndrome Scaphocephaly, Maxillary Retrusion, And Mental Retardation SCARF syndrome Schaap Taylor Baraitser syndrome Schimke X-linked mental retardation syndrome Schinzel-Giedion syndrome Schofer Beetz Bohl syndrome Scholte syndrome Schrander-Stumpel Theunissen Hulsmans syndrome Sclerosing bone dysplasia mental retardation Scott Bryant Graham syndrome Seckel Syndrome 3 SECKEL SYNDROME 4 Seemanova Lesny syndrome SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE SeSAME syndrome Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Sexual Infantilism Short stature syndrome, Brussels type Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly Short Stature, Idiopathic, X-Linked Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting Short Stature-Obesity Syndrome SHORT syndrome Simpson-Golabi-Behmel syndrome + Singh Chhaparwal Dhanda syndrome Skeletal Defects, Genital Hypoplasia, And Mental Retardation Sketetal dysplasia coarse facies mental retardation Slavotinek Pike Mills Hurst syndrome Slti Salem syndrome Sonoda syndrome Spastic Ataxia Spastic diplegia infantile type Spastic paraplegia 14, autosomal recessive Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive Spastic paraplegia 9, autosomal dominant Spastic paraplegia epilepsy mental retardation Spastic Paraplegia, Ataxia, And Mental Retardation Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Spinal Muscular Atrophy with Mental Retardation Spinal Muscular Atrophy with Microcephaly and Mental Subnormality Spondyloepimetaphyseal dysplasia, Genevieve type Spondyloepimetaphyseal Dysplasia, Pakistani Type Spondyloepiphyseal Dysplasia Tarda with Mental Retardation Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation Spondylometaphyseal dysplasia, 'corner fracture' type Stern Lubinsky Durrie syndrome Stevenson-Carey Syndrome Sucrosuria, Hiatus Hernia and Mental Retardation SUPERNUMERARY DER(22)t(8 Synostosis of Talus and Calcaneus with Short Stature Tamari Goodman syndrome Temple-Baraitser Syndrome Temtamy preaxial brachydactyly syndrome Tetrasomy X Theodor Hertz Goodman syndrome Thrombocytopenia Robin sequence Thumb Agenesis, Short Stature, And Immunodeficiency Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness Tonoki syndrome Trichodental syndrome TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Triple X syndrome Tryptophanuria With Dwarfism Tsukahara Syndrome Ulna hypoplasia with mental retardation Ulnar Hypoplasia with Mental Retardation Upton Young syndrome Van Bogaert-Hozay syndrome Van Den Bosch Syndrome Van Maldergem Wetzburger Verloes syndrome Vasquez Hurst Sotos syndrome Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency Verloes Gillerot Fryns syndrome Vertebral body fusion overgrowth Viljoen Kallis Voges syndrome Vitiligo, Progressive, with Mental Retardation and Urethral Duplication Volcke Soekarman syndrome WAGR Syndrome + Walker Dyson syndrome Warburg Sjo Fledelius syndrome Warburton Anyane Yeboa syndrome Weinstein Kliman Scully syndrome Wellesley Carmen French syndrome Wiedemann Grosse Dibbern syndrome Wiedemann Oldigs Oppermann syndrome Williams Syndrome + Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Wilson-Turner X-linked mental retardation syndrome Winchester syndrome Winship Viljoen Leary syndrome Wittwer syndrome Woodhouse Sakati syndrome Worster Drought syndrome X chromosome, duplication Xq13 1 q21 1 X chromosome, monosomy Xp22 pter X chromosome, monosomy Xq28 X chromosome, trisomy Xp3 X chromosome, trisomy Xpter Xq13 X chromosome, trisomy Xq25 XXY trisomy XYY Karyotype + Yorifuji Okuno syndrome Young Hughes syndrome Young Simpson syndrome Zazam Sheriff Phillips syndrome Zechi-Ceide Syndrome Zerres Rietschel Majewski syndrome Zlotogora-Ogur syndrome Zunich neuroectodermal syndrome

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