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Ontology Browser
Term:
Alopecia Contractures Dwarfism Mental Retardation (DOID:9000112)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
alopecia +     
Contracture +     
Dwarfism +     
intellectual disability +     
3-M syndrome +   
Aarskog syndrome +   
Aase Smith Syndrome 
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
achondroplasia +   
acrodysostosis +   
acromesomelic dysplasia +   
AGAT deficiency  
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-Raqad Syndrome  
alacrima, achalasia, and impaired intellectual development syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
alopecia areata +   
Alopecia Congenita Keratosis Palmoplantaris +   
Alopecia Contractures Dwarfism Mental Retardation 
alopecia universalis +   
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Hypogonadism, Extrapyramidal Disorder  
alopecia, neurologic defects, and endocrinopathy syndrome  
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
alopecia-mental retardation syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
AMED syndrome  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
AMME complex 
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
anauxetic dysplasia +   
Androgenetic Alopecia 2 
Androgenetic Alopecia 3 
androgenic alopecia 
Ansell Bywaters Elderking Syndrome 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 
Arthrogryposis, Impaired Intellectual Development, and Seizures  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Atelosteogenesis Type 3  
atrichia with papular lesions  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant intellectual developmental disorder +   
autosomal dominant keratosis follicularis spinulosa decalvans 
autosomal recessive cutis laxa type III +   
autosomal recessive intellectual developmental disorder +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development  
autosomal recessive spinocerebellar ataxia 12  
Axial Mesodermal Dysplasia Spectrum 
Ayme-Gripp syndrome  
Bangstad Syndrome 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
BDV Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Behr syndrome  
Bellini Chiumello Rimoldi Syndrome 
Bethlem myopathy +   
Biemond Syndrome II 
bilateral perisylvian polymicrogyria +   
Bird Headed Dwarfism Montreal Type 
Birk-Barel syndrome  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis-impaired intellectual development syndrome  
Bohring Syndrome  
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
Boomerang dysplasia  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
brachycephaly, trichomegaly, and developmental delay  
Brachydactylous Dwarfism Mseleni Type 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
branched-chain keto acid dehydrogenase kinase deficiency  
Bresheck/Bresek Syndrome 
Brunner syndrome  
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
BURATTI-HAREL SYNDROME  
C syndrome  
CAHMR Syndrome 
Camera Marugo Cohen Syndrome 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma  
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cartwright Nelson Fryns Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATIFA Syndrome  
Central Centrifugal Cicatricial Alopecia  
Cephalin Lipidosis 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
cerebellofaciodental syndrome  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
chemotherapy-induced alopecia 
CHIME syndrome  
Chondrodysplasia Calcificans Metaphysealis 
Choroid Plexus Calcification with Mental Retardation 
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q26-qter deletion syndrome  
chromosome 16p11.2 deletion syndrome, 593-kb  
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 3q29 microdeletion syndrome  
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB  
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome  
Chudley-Rozdilsky Syndrome 
cleft lip-palate-ectodermal dysplasia syndrome  
Cochlear Deafness with Myopia and Intellectual Impairment 
Cockayne syndrome +   
Coffin Syndrome 1 
Cohen syndrome  
Cohen-Gibson Syndrome  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
Congenital Alopecia X-Linked 
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
congenital contractural arachnodactyly  
Congenital Contractures, Torticollis, and Malignant Hyperthermia 
CONGENITAL DISORDER OF DEGLYCOSYLATION 2  
Congenital Ectodermal Dysplasia with Hearing Loss 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital hypothyroidism +   
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myopathy 6  
contractures, pterygia, and spondylocarpotarsal fusion syndrome +   
Cornelia de Lange syndrome +   
corpus callosum agenesis-abnormal genitalia syndrome  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +   
Craniofaciofrontodigital Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Cutaneous Telangiectasia and Cancer Syndrome, Familial  
Cutis Verticis Gyrata and Mental Deficiency 
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
Davenport Donlan Syndrome 
Davis Lafer Syndrome 
De Sanctis-Cacchione syndrome  
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness-dystonia-optic neuronopathy syndrome  
dermatopathia pigmentosa reticularis  
Desbuquois dysplasia +   
developmental and epileptic encephalopathy 9  
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
diastrophic dysplasia +   
dicarboxylic aminoaciduria  
Diets-Jongmans Syndrome  
diphthamide deficiency syndrome +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
DOORS syndrome  
Down syndrome +   
Dubowitz syndrome  
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 
Duker Weiss Siber syndrome 
Dupuytren Contracture +  
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism with Tall Vertebrae 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
Dyssegmental Dysplasia with Glaucoma 
Dystonia with Ringbinden 
EAST syndrome  
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Elliott Ludman Teebi Syndrome 
Emanuel Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epilepsy Telangiectasia 
Erosive Arthropathy 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Faciocardiomelic Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Dwarfism with Muscle Spasms 
Familial Focal Alopecia 
Familial Synovial Chondromatosis with Dwarfism 
Feingold syndrome +   
Feingold Trainer Syndrome 
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME  
fibrochondrogenesis +   
Filippi syndrome  
Fine-Lubinsky Syndrome  
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
Follicular Hamartoma, Alopecia, Cystic Fibrosis 
follicular mucinosis 
Fountain Syndrome 
frontal fibrosing alopecia 
frontonasal dysplasia 2  
frontonasal dysplasia 3  
GAPO syndrome  
GARG-MISHRA PROGEROID SYNDROME  
Garret Tripp Syndrome 
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
geroderma osteodysplasticum  
Gillespie syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Gomez Lopez Hernandez Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Hormone Insensitivity with Immune Dysregulation +   
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
Hall Riggs Mental Retardation Syndrome 
Hamamy Syndrome  
Harel-Yoon syndrome  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 32 
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
Hip Contracture  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoxha-Aliu syndrome  
Hoyeraal Hreidarsson Syndrome  
Hunter-McAlpine Syndrome 
Hydroxylysinuria 
Hypergonadotropic Hypogonadism and Partial Alopecia 
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
hypermethioninemia due to adenosine kinase deficiency  
hypochondroplasia  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias-Mental Retardation Syndrome 
hypotonia-cystinuria syndrome  
hypotrichosis 7  
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
Ichthyosis and Male Hypogonadism 
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
IFAP Syndrome +   
Iida Kannari Syndrome 
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
Intellectual Developmental Disorder with Autism and Dysmorphic Facies  
Intellectual Developmental Disorder with Autism and Macrocephaly  
Intellectual Developmental Disorder with Autism and Speech Delay  
intellectual developmental disorder with cardiac arrhythmia  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS  
intellectual developmental disorder with short stature and behavioral abnormalities  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS  
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES  
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
isolated cleft palate  
isolated growth hormone deficiency +   
Jagell Holmgren Hofer Syndrome 
Johanson-Blizzard syndrome  
Johnson Neuroectodermal Syndrome 
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA  
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
Juberg Hayward Syndrome  
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kapur Toriello Syndrome  
Karandikar Maria Kamble Syndrome 
Katsantoni Papadakou Lagoyanni Syndrome 
KBG syndrome  
Kenny-Caffey syndrome type 2  
Keppen-Lubinsky Syndrome  
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 
Khalifa Graham Syndrome 
KINSSHIP syndrome  
Kleefstra syndrome +   
Kniest dysplasia  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
Koone Rizzo Elias Syndrome 
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Kuzniecky Andermann Syndrome 
Lambert Syndrome 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 
Lenz-Majewski hyperostotic dwarfism  
Lessel-Kubisch Syndrome  
lethal congenital contracture syndrome 3  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Li-Campeau Syndrome  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
lissencephaly 3 +   
lissencephaly 4  
loose anagen hair syndrome +   
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Luscan-Lumish Syndrome  
Lynch Lee Murday syndrome 
Macleod Fraser syndrome 
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
mandibulofacial dysostosis with alopecia  
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Marden-Walker Syndrome  
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
MASA syndrome  
McDonough Syndrome 
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
MEND syndrome  
Menke-Hennekam Syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
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 Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation with Spastic Paraplegia 
Mental Retardation Wolff Type  
Mental Retardation, Buenos Aires 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, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Metatropic Dwarfism, Type II 
metatropic dysplasia  
Methionine Malabsorption Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Cervical Spine Fusion Anomalies 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microphthalmia and Mental Deficiency 
Miles-Carpenter syndrome +   
Mirhosseini-Holmes-Walton Syndrome 
Mollica Pavone Antener Syndrome 
Moloney Syndrome 
MOMES Syndrome 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mosaic Variegated Aneuploidy Syndrome 6  
Mowat-Wilson syndrome  
mulibrey nanism  
multiple benign circumferential skin creases on limbs +   
multiple congenital anomalies-hypotonia-seizures syndrome 3  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
muscular dystrophy-dystroglycanopathy type B1  
muscular dystrophy-dystroglycanopathy type B14  
muscular dystrophy-dystroglycanopathy type B2  
muscular dystrophy-dystroglycanopathy type B3  
muscular dystrophy-dystroglycanopathy type B6  
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
Neuhauser Syndrome 
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurofaciodigitorenal Syndrome 
NF1 Microduplication Syndrome 
Nicolaides-Baraitser syndrome  
Nievergelt Syndrome 
non-syndromic intellectual disability +   
nonprogressive cerebellar ataxia with mental retardation  
Oculopalatocerebral Syndrome 
Ohdo syndrome +   
Okur-Chung Neurodevelopmental Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
Onychotrichodysplasia and Neutropenia 
optic atrophy 10  
Osteolysis Syndrome, Recessive 
otospondylomegaepiphyseal dysplasia, autosomal recessive  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
palmoplantar keratoderma and congenital alopecia 2 
parastremmatic dwarfism  
PARC Syndrome 
Parkinson's disease 25  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Pashayan Syndrome 
Patel Bixler Syndrome 
Patella Hypoplasia Mental Retardation 
Pavone Fiumara Rizzo Syndrome 
Perniola Krajewska Carnevale Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Tietze Welte Syndrome 
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
photosensitive trichothiodystrophy 1  
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
Piussan Lenaerts Mathieu syndrome 
plantar fascial fibromatosis 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Prader-Willi syndrome +   
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME  
Primrose Syndrome  
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 
Proportionate Dwarfism with Hip Dislocation 
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Pseudoaminopterin Syndrome 
Pseudodiastrophic Dysplasia 
Pseudouridinuria and Mental Defect 
Qazi Markouizos syndrome 
RADIO-TARTAGLIA SYNDROME  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
RAUCH-STEINDL SYNDROME  
Reardon Wilson Cavanagh Syndrome 
restrictive dermopathy +   
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Richards-Rundle Syndrome 
Ritscher-Schinzel syndrome 2  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
Sao Paulo MCA/MR Syndrome 
SATB2-associated syndrome  
Satoyoshi Syndrome 
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schinzel Giedion syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Sclerosing Bone Dysplasia, Mental Retardation 
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Seemanova Lesny Syndrome 
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Shaheen Syndrome  
Short Limb Dwarfism Al Gazali Type  
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature with Nonspecific Skeletal Abnormalities  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
SHORT STATURE, DAUBER-ARGENTE TYPE  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
short stature, hearing loss, retinitis pigmentosa, and distinctive facies  
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
SHORT STATURE-MICROGNATHIA SYNDROME  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda Syndrome 
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Slti Salem Syndrome 
Smith-Kingsmore Syndrome  
Snijders Blok-Campeau Syndrome  
spastic ataxia +   
Spastic Diplegia Infantile Type 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Epilepsy, Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
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, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepiphyseal dysplasia tarda with intellectual disability 
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
spondylometaepiphyseal dysplasia, short limb-hand type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Spondylospinal Thoracic Dysostosis 
Stevenson-Carey Syndrome 
stiff skin syndrome  
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
Sucrosuria, Hiatus Hernia and Mental Retardation 
Supernumerary Der(22)t(8;22) Syndrome 
syndromic intellectual disability +   
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
telogen effluvium 
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Tenorio Syndrome  
Tessadori-van Haaften Neurodevelopmental Syndrome 1  
Tetrasomy X 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Thumb Deformity and Alopecia 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
Tolchin-Le Caignec Syndrome  
Tonoki Syndrome 
Trichodental Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Ulnar Hypoplasia with Mental Retardation 
Upton Young Syndrome 
Urban Schosser Spohn Syndrome  
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van den Ende-Gupta syndrome  
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Verloes Gillerot Fryns Syndrome 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Vissers-Bodmer syndrome  
Volcke Soekarman Syndrome 
Volkmann contracture 
WAGR syndrome +   
Waisman syndrome  
Walker Dyson Syndrome 
Warburg micro syndrome +   
Warburg-Cinotti Syndrome  
Warburton Anyane Yeboa Syndrome  
Watson syndrome  
Weill-Marchesani syndrome +   
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Wiedemann-Steiner syndrome  
Williams-Beuren syndrome +   
Winchester syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Woodhouse-Sakati syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Worster-Drought Syndrome  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-Linked Intellectual Developmental Disorders +   
Yoon-Bellen neurodevelopmental syndrome  
Young Hughes Syndrome 
Zaki syndrome  
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: ACD Mental Retardation Syndrome ;   Alopecia-contractures-dwarfism mental retardation syndrome
Primary IDs: MESH:C537051
Alternate IDs: OMIM:203550

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