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Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 (DOID:9005524)
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Parent Terms Term With Siblings Child Terms
Deafness +     
Growth Disorders +     
hypogonadism +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3p deletion syndrome 
Absence of Tibia with Congenital Deafness 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
Albinism Deafness Syndrome 
Alopecia, Hypogonadism, Extrapyramidal Disorder  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Aphalangia Syndactyly Microcephaly 
Armfield syndrome  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Arts syndrome  
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
Ayme-Gripp syndrome  
Bainbridge-Ropers Syndrome  
Basilicata-Akhtar syndrome  
Bassoe Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Biemond Syndrome II 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Borjeson-Forssman-Lehmann syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
brachydactyly type E2  
Branchiogenic-Deafness Syndrome 
Burn-McKeown syndrome  
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardioauditory Syndrome of Sanchez Cascos 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Chang Davidson Carlson Syndrome 
Chitty Hall Baraitser Syndrome 
Christianson syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
Chudley-Rozdilsky Syndrome 
Clark-Baraitser syndrome  
CODAS syndrome  
Coffin Syndrome 1 
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
Congenital Myopathy with Neuropathy and Deafness  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Daish Hardman Lamont Syndrome 
Davenport Donlan Syndrome 
De Sanctis-Cacchione Syndrome  
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, with Smith-Magenis Syndrome  
Deafness-Hypogonadism Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Dermoids of Cornea 
Devriendt syndrome 
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Dubowitz syndrome  
Dyschondrosteosis and Nephritis 
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
eunuchism +   
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Fallot Complex with Severe Mental and Growth Retardation 
Familial Osteochondritis Dissecans  
female-restricted syndromic X-linked intellectual disability 99  
Fetal Growth Retardation +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Floating-Harbor syndrome  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Frias Syndrome 
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
glycogen storage disease IX +   
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
gonadal dysgenesis +   
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 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 
Hairy Elbows  
Heme Oxygenase 1 Deficiency  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 9A  
Herrmann Syndrome 
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hyperlipoproteinemia Type II, and Deafness 
Hypogonadism and Testicular Atrophy 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism +   
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Ichthyosis and Male Hypogonadism 
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
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 
Isolated Mineralocorticoid Deficiency  
ITM2B-related cerebral amyloid angiopathy 2  
Johanson-Blizzard syndrome  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Jorgenson Lenz Syndrome 
Keipert syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
Klinefelter syndrome  
Konigsmark Knox Hussels Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer syndrome 
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leri-Weill dyschondrosteosis  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubinsky Syndrome 
Lynch Lee Murday syndrome 
Macrosomia Adiposa Congenita 
Madelung Deformity 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Malocclusion and Short Stature 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Martsolf syndrome  
Megarbane Syndrome 
MEHMO syndrome  
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, X-Linked, Syndromic 33  
Mental Retardation, X-Linked, Syndromic, Bain Type  
Mental Retardation, X-Linked, Syndromic, Ube2a-Related  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 (ATRX) gene on chromosome Xq13 and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. (OMIM)
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microdontia Hypodontia Short Stature 
Miles-Carpenter syndrome +   
Milner Khallouf Gibson Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
Moebius Axonal Neuropathy Hypogonadism 
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Muckle-Wells syndrome  
Mullegama-Klein-Martinez syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Synostoses Syndrome 1  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Myopathy, Cataract, Hypogonadism Syndrome 
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
Nephrosis Deafness Urinary Tract Digital Malformation 
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurofaciodigitorenal Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Ogden syndrome  
Omodysplasia 1  
Onat Syndrome 
Opticocochleodentate Degeneration 
Osteolysis Syndrome, Recessive 
Paganini-Miozzo syndrome  
Partington Anderson Syndrome 
Partington syndrome  
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Perrault syndrome +   
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pili Torti Developmental Delay Neurological Abnormalities  
Pilotto Syndrome 
Premature Aging, Okamoto Type 
Prieto syndrome 
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
Progressive External Ophthalmoplegia with Hypogonadism 
PSPH deficiency  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Raynaud-Claes syndrome  
Reardon Wilson Cavanagh Syndrome 
Renpenning syndrome  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Rodrigues Blindness 
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Rud Syndrome 
Ruijs-Aalfs syndrome  
Say Meyer Syndrome  
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Scholte Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Sexual Infantilism  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT syndrome  
SHOX-related short stature  
Silver-Russell Syndrome 3  
Sinoatrial Node Dysfunction and Deafness  
Slavotinek Pike Mills Hurst Syndrome 
Slti Salem Syndrome 
Sonoda Syndrome 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Stern Lubinsky Durrie Syndrome 
Stocco Dos Santos type X-linked intellectual disability  
syndromic X-linked intellectual disability 12 
syndromic X-linked intellectual disability 14  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 34  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability 7 
syndromic X-linked intellectual disability 94  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Chudley-Schwartz type 
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Lubs type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Nascimento type  
syndromic X-linked intellectual disability Raymond type  
syndromic X-linked intellectual disability Shashi type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disability type 10  
syndromic X-linked mental retardation 35  
syndromic X-linked mental retardation Hough type  
Synostosis of Talus and Calcaneus with Short Stature 
Tatton-Brown-Rahman Syndrome  
temtamy preaxial brachydactyly syndrome  
Theodor Hertz Goodman Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Tietz syndrome  
Tonne-Kalscheuer syndrome  
Tonoki Syndrome 
Tsukahara Syndrome  
Turnpenny-Fry Syndrome  
Van Esch-O'Driscoll syndrome  
Vasquez Hurst Sotos Syndrome 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Warburg micro syndrome +   
Weill-Marchesani Syndrome 2  
Weinstein Kliman Scully Syndrome 
Wellesley Carmen French Syndrome 
Wells Jankovic Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wilson-Turner syndrome  
Winchester syndrome  
Wittwer Syndrome  
Woodhouse-Sakati Syndrome  
Wright Dyck Syndrome 
X-linked Aarskog syndrome  
X-linked Alport syndrome  
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked intellectual disability-short stature-overweight syndrome  
X-Linked Mental Retardation Gustavson Type 
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-linked retinitis pigmentosa and sinorespiratory infections  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Young Hughes Syndrome 
Zerres Rietschel Majewski Syndrome 

Exact Synonyms: Carpenter-Waziri syndrome ;   Chudley Lowry Hoar syndrome ;   Chudley mental retardation syndrome ;   Chudley syndrome 1 ;   Chudley-Lowry Syndrome ;   Holmes-Gang syndrome ;   MRXHF1 ;   SFM1 ;   SFMS ;   Smith-Fineman-Myers syndrome 1 ;   X-Linked Mental Retardation-Hypotonic Facies Syndrome ;   X-linked hypogonadism gynecomastia mental retardation ;   XLMR-HYPOTONIC FACIES SYNDROME
Primary IDs: MESH:C537457 ;   RDO:0003301
Alternate IDs: OMIM:309580

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.