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Ontology Browser

Term:
De Sanctis-Cacchione syndrome (DOID:0112158)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Dwarfism +     
hypogonadism +     
16p11.2 Deletion Syndrome  
3-M syndrome +   
Aarskog 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 Mental Retardation Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia Contractures Dwarfism Mental Retardation 
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 +   
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
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 +   
Ansell Bywaters Elderking Syndrome 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arthrogryposis, Mental Retardation, and Seizures  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 
Atelosteogenesis Type 3  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant mental retardation 50  
autosomal recessive cutis laxa type III +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development  
autosomal recessive spinocerebellar ataxia 12  
Ayme-Gripp syndrome  
Bangstad Syndrome 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Bassoe Syndrome 
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Behr syndrome  
Bellini Chiumello Rimoldi Syndrome 
Biemond Syndrome II 
bilateral perisylvian polymicrogyria +   
Bird Headed Dwarfism Montreal Type 
Birk-Barel syndrome  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Bohring Syndrome  
Boomerang dysplasia  
Borjeson-Forssman-Lehmann syndrome  
Bosch-Boonstra-Schaaf optic atrophy syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari 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 
C syndrome  
CAHMR Syndrome 
Camera Marugo Cohen Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cartwright Nelson Fryns Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATIFA Syndrome  
Cephalin Lipidosis 
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
cerebellofaciodental syndrome  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
Cerebrofaciothoracic Dysplasia  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
Chang Davidson Carlson Syndrome 
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 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 Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital hypothyroidism +   
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
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  
Cornelia de Lange syndrome +   
corpus callosum agenesis-abnormal genitalia syndrome  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
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 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 
Davis Lafer Syndrome 
De Sanctis-Cacchione syndrome  
A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. (DO)
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness-dystonia-optic neuronopathy syndrome  
Deafness-Hypogonadism Syndrome 
Desbuquois dysplasia +   
developmental and epileptic encephalopathy 9  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
diastrophic dysplasia +   
dicarboxylic aminoaciduria  
Diets-Jongmans Syndrome  
dilated cardiomyopathy-hypergonadotropic hypogonadism 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 
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Familial, with Muscle Spasms 
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 
EAST syndrome  
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 
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Epilepsy Telangiectasia 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
eunuchism +   
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 Synovial Chondromatosis with Dwarfism 
Feingold syndrome +   
Feingold Trainer 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  
Fountain Syndrome 
Frontonasal Dysplasia 3  
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  
Glycosylphosphatidylinositol Biosynthesis Defect 16  
gonadal dysgenesis +   
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 Hormone Insensitivity with Immune Dysregulation +   
Growth Mental Deficiency Syndrome of Myhre  
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 spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 32 
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME 
Hittner Hirsch Kreh Syndrome  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Hunter-McAlpine Syndrome 
Hydroxylysinuria 
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatasia with Mental Retardation +   
hypochondroplasia  
Hypogonadism and Testicular Atrophy 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism +   
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypomagnesemia, Seizures, and Mental Retardation +   
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias-Mental Retardation Syndrome 
hypotonia-cystinuria syndrome  
Ichthyosis and Male Hypogonadism 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
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 Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES  
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 Macrocephaly, Seizures, and Speech Delay  
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 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 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 Disability with Episodic Ataxia and Congenital Arthrogryposis  
isolated cleft palate  
isolated growth hormone deficiency +   
Isolated Mineralocorticoid Deficiency  
Jagell Holmgren Hofer Syndrome 
Johanson-Blizzard syndrome  
Johnson Neuroectodermal Syndrome 
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 Cerebral Atrophy 
Khalifa Graham Syndrome 
KINSSHIP SYNDROME 
Kleefstra syndrome +   
Klinefelter syndrome  
Kniest dysplasia  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
Koone Rizzo Elias Syndrome 
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska 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  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Li-Campeau Syndrome  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Light Fixation Seizure Syndrome 
lissencephaly 3 +   
lissencephaly 4  
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Lubinsky Syndrome 
Luscan-Lumish syndrome  
Lynch Lee Murday syndrome 
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Martsolf syndrome  
MASA syndrome  
McDonough Syndrome 
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
MEHMO syndrome  
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, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
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, Short Stature, Facial Anomalies, and Joint Dislocations  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
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 Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
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 
Mirhosseini-Holmes-Walton Syndrome 
Moebius Axonal Neuropathy Hypogonadism 
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  
mulibrey nanism  
multiple benign circumferential skin creases on limbs +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  
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 type B6  
Myopathy, Cataract, Hypogonadism Syndrome 
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
Neuhauser Syndrome 
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  
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 
parastremmatic dwarfism  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Pashayan 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 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Prader-Willi syndrome +   
Primrose Syndrome  
Progressive External Ophthalmoplegia with Hypogonadism 
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 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Reardon Wilson Cavanagh Syndrome 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Richards-Rundle Syndrome 
Ritscher-Schinzel syndrome 2  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rommen Mueller Sybert Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
Sao Paulo MCA/MR Syndrome 
SATB2-associated syndrome  
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
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 
Sexual Infantilism  
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, 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, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
Short Stature-Obesity Syndrome 
SIFRIM-HITZ-WEISS 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  
Stevenson-Carey 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 
syndromic intellectual disability +   
syndromic X-linked intellectual disability Cabezas type  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tatton-Brown-Rahman Syndrome  
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Tenorio Syndrome  
Tetrasomy X 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Tolchin-Le Caignec Syndrome  
Tonoki Syndrome 
Trichodental Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Ulnar Hypoplasia with Mental Retardation 
Upton Young Syndrome 
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Den Bosch 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 
WAGR syndrome +   
Waisman syndrome  
Walker Dyson Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Weill-Marchesani syndrome +   
Weinstein Kliman Scully Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren syndrome +   
Winship Viljoen Leary Syndrome 
Woodhouse-Sakati syndrome  
Worster-Drought Syndrome  
X-linked mental retardation-hypotonic facies syndrome-1  
xeroderma pigmentosum group A  
xeroderma pigmentosum group B +   
xeroderma pigmentosum group C  
xeroderma pigmentosum group D  
xeroderma pigmentosum group E  
xeroderma pigmentosum group F  
xeroderma pigmentosum group G +   
xeroderma pigmentosum variant type  
Xeroderma Pigmentosum, Autosomal Dominant, Mild 
Xeroderma Pigmentosum, Type 9 
XFE progeroid syndrome  
Yorifuji Okuno Syndrome 
Young Hughes Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: Desanctis-Cacchione Syndrome ;   xeroderma pigmentosum with neurologic manifestation ;   xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia ;   xerodermic idiocy of de Sanctis and Cacchione
Primary IDs: MESH:C535992
Alternate IDs: OMIM:278800
Xrefs: GARD:8276 ;   NCI:C84666 ;   ORDO:1569
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/10767341/ "DO", https://pubmed.ncbi.nlm.nih.gov/2168777/ "DO", https://pubmed.ncbi.nlm.nih.gov/28491977/ "DO"

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