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16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 4
ablepharon macrostomia syndrome
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Absent Eyebrows and Eyelashes with Mental Retardation
Acrocephalopolydactylous Dysplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
acromesomelic dysplasia +
Adducted Thumbs Syndrome +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
agenesis of the corpus callosum with peripheral neuropathy
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
alacrima, achalasia, and impaired intellectual development syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia Contractures Dwarfism Mental Retardation
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
alopecia, neurologic defects, and endocrinopathy syndrome
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
alopecia-mental retardation syndrome +
alpha thalassemia-intellectual disability syndrome type 1
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
Amyotrophic Dystonic Paraplegia
Ankyloblepharon Filiforme Adnatum
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anophthalmia Plus Syndrome
Ansell Bywaters Elderking Syndrome
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Arroyo Garcia Cimadevilla Syndrome
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis, Impaired Intellectual Development, and Seizures
asphyxiating thoracic dystrophy +
Asymmetric Short Stature Syndrome
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
Ausems Wittebol-Post Hennekam Syndrome
autosomal dominant intellectual developmental disorder +
autosomal dominant intellectual developmental disorder 22
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
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axial Mesodermal Dysplasia Spectrum
Bamforth-Lazarus syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Beckwith-Wiedemann syndrome +
Bellini Chiumello Rimoldi Syndrome
Ben Ari Shuper Mimouni Syndrome
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Ureidopropionase Deficiency
Bifid Femur with Monodactylous Ectrodactyly
Bilateral Amastia with Ureteral Triplication and Dysmorphism
bilateral perisylvian polymicrogyria +
Bird Headed Dwarfism Montreal Type
Birk-Landau-Perez Syndrome
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
blepharophimosis-impaired intellectual development syndrome
Bloch-Sulzberger syndrome +
Boudhina Yedes Khiari syndrome
brachycephaly, trichomegaly, and developmental delay
Brachydactylous Dwarfism Mseleni Type
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Braddock Carey Syndrome +
branched-chain keto acid dehydrogenase kinase deficiency
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
Bullous Dystrophy, Hereditary Macular Type
Burnett Schwartz Berberian Syndrome
Calloso-Genital Dysplasia
Camera Marugo Cohen Syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cardiac, Facial, and Digital Anomalies with Developmental Delay
Cartwright Nelson Fryns Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
caudal regression syndrome
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
cerebellofaciodental syndrome
cerebral cavernous malformation 2
cerebral cavernous malformation 3
Cerebral Visual Impairment and Intellectual Disability
cerebrocostomandibular syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Chemke Oliver Mallek Syndrome
Chondrodysplasia Calcificans Metaphysealis
CHOPRA-AMIEL-GORDON SYNDROME
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 19q13.11 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 5p13 duplication syndrome
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Chudley-Mccullough syndrome
Chudley-Rozdilsky Syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
Cleft Lip, Congenital Healed
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cochlear Deafness with Myopia and Intellectual Impairment
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
combined oxidative phosphorylation deficiency 2
Combined Pituitary Hormone Deficiency 1
Combined Pituitary Hormone Deficiency 4
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital hypothyroidism +
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 secretory sodium diarrhea 3
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cornelia de Lange syndrome +
corpus callosum agenesis-abnormal genitalia syndrome
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Cortical Blindness, Retardation, and Postaxial Polydactyly
Costocoracoid Ligament Congenitally Short
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
Craniomicromelic Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
Curatolo Cilio Pessagno Syndrome
Cutis Verticis Gyrata and Mental Deficiency
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
De Sanctis-Cacchione syndrome
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Congenital Onychodystrophy, Recessive Form
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
deafness-dystonia-optic neuronopathy syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
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
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
dicarboxylic aminoaciduria
Dincsoy Salih Patel 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 type 7
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
Distal Transverse Limb Defects with Mental Retardation and Spasticity
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave
Duker Weiss Siber syndrome
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism with Tall Vertebrae
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
Ectodermal Dysplasia, Mental Retardation, Syndactyly
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly Cardiopathy Dysmorphism
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Fallot Complex with Severe Mental and Growth Retardation
Familial Convulsive Disorder with Prenatal or Early Onset
Familial Dwarfism with Muscle Spasms
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
Familial Synovial Chondromatosis with Dwarfism
Faye-Petersen Ward Carey Syndrome
Feingold Trainer Syndrome
Femur Fibula Ulna Syndrome
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Focal Epilepsy with Speech Disorder and with or without Mental Retardation
Forney Robinson Pascoe Syndrome
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Gardner Morrisson Abbot Syndrome
GARG-MISHRA PROGEROID SYNDROME
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
geroderma osteodysplasticum
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Glutamyl Ribose-5-Phosphate Storage Disease
Gomez Lopez Hernandez Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Chaudhry Moss 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 Retardation, Developmental Delay, Coarse Facies, and Early Death
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Gurrieri Sammito Bellussi Syndrome
Hair Defect with Photosensitivity and Mental Retardation
Hall Riggs Mental Retardation Syndrome
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hay Wells Syndrome Recessive Type
Heart Defects Limb Shortening
hereditary spastic paraplegia 11
hereditary spastic paraplegia 14
hereditary spastic paraplegia 18
hereditary spastic paraplegia 32
Hersh Podruch Weisskopf Syndrome
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Hunter-Macdonald Syndrome
Hyperleucine-Isoleucinemia
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria
hypermethioninemia due to adenosine kinase deficiency
hyperphosphatasia with impaired intellectual development syndrome +
hypertelorism, microtia, facial clefting syndrome
Hypodontia Oligodontia with Orofacial Cleft
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
Hypospadias-Mental Retardation Syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
hypotonia-cystinuria syndrome
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
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
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
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
Iris Dysplasia Hypertelorism Deafness
isolated growth hormone deficiency +
Isolated Noncompaction of the Ventricular Myocardium +
Jagell Holmgren Hofer Syndrome
Jequier Kozlowski Skeletal Dysplasia
Johanson-Blizzard syndrome
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jung Wolff Back Stahl Syndrome
Kaler Garrity Stern Syndrome
Kallmann Syndrome 2 with Cleft Lip or Palate
Karandikar Maria Kamble Syndrome
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Kenny-Caffey syndrome type 2
Keratoconus Posticus Circumscriptus with Associated Malformations
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
KOHLSCHUTTER-TONZ SYNDROME-LIKE
Koone Rizzo Elias Syndrome
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
Krauss Herman Holmes Syndrome
Kuzniecky Andermann Syndrome
Laplane Fontaine Lagardere Syndrome
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation
lateral meningocele syndrome
Le Marec Bracq Picaud Syndrome
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
linear nevus sebaceous syndrome +
Lissencephaly and Agenesis of Corpus Callosum
Lubani Al Saleh Teebi Syndrome
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Lynch Lee Murday syndrome
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
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
Marles Greenberg Persaud Syndrome
Martinez Monasterio Pinheiro Syndrome
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megalencephalic leukoencephalopathy with subcortical cysts 2B
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
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
Mesomelia-Synostoses Syndrome
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Limb Shortening and Bowing
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Metatropic Dwarfism, Type II
Methionine Malabsorption Syndrome
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
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, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microdontia Hypodontia Short Stature
Microphthalmia and Mental Deficiency
Microspherophakia with Hernia
Mirhosseini-Holmes-Walton Syndrome
Mollica Pavone Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 6
Mousa Al din Al Nassar Syndrome
mucolipidosis II alpha/beta
Mucopolysaccharidosis-Plus Syndrome
Muller Barth Menger Syndrome
multiple benign circumferential skin creases on limbs +
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 3
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
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
Myoectodermal Gonadal Dysgenesis Syndrome
Myotonia with Skeletal Abnormalities and Mental Retardation
Nablus Mask-Like Facial Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
NEUROCARDIOFACIODIGITAL SYNDROME
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
Neurofaciodigitorenal Syndrome
nevoid basal cell carcinoma syndrome +
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
non-syndromic intellectual disability +
Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
nonprogressive cerebellar ataxia with mental retardation
Noonan syndrome with multiple lentigines +
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Okur-Chung Neurodevelopmental Syndrome
Oliver-McFarlane syndrome
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Onychotrichodysplasia and Neutropenia
orofaciodigital syndrome +
Osteolysis Syndrome, Recessive
otospondylomegaepiphyseal dysplasia, autosomal recessive
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
Partial Agenesis of Corpus Callosum +
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patella Hypoplasia Mental Retardation
Patterson Pseudoleprechaunism Syndrome
Pavone Fiumara Rizzo Syndrome
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
Perniola Krajewska Carnevale Syndrome
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
photosensitive trichothiodystrophy 1
Piepkorn Karp Hickok syndrome
Piussan Lenaerts Mathieu syndrome
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
polycystic kidney disease +
popliteal pterygium syndrome +
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Premature Aging, Okamoto Type
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY 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
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Hypoplasia Choanal Atresia
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Reardon Wilson Cavanagh Syndrome
Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum
Renal Hypophosphatemia with Intracerebral Calcifications
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Ritscher-Schinzel syndrome +
Ritscher-Schinzel syndrome 2
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant
Rommen Mueller Sybert Syndrome
Rosselli-Gulienetti Syndrome
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi syndrome +
Ruzicka Goerz Anton syndrome
Sackey Sakati Aur Syndrome
Sacral Meningocele Conotruncal Heart Defects
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Field Coldwell Syndrome
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
Schofer Beetz Bohl Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Sclerosing Bone Dysplasia, Mental Retardation
Seckel Like Syndrome Type Buebel
Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects
Selective Tooth Agenesis with Orofacial Cleft
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Sharma Kapoor Ramji 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
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
Sifrim-Hitz-Weiss syndrome
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
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
Smith-Lemli-Opitz syndrome +
Snijders Blok-Campeau Syndrome
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
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Spinal Muscular Atrophy with Mental Retardation
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
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
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Squalene Synthase Deficiency
Stankiewicz-Isidor Syndrome
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stoelinga de Koomen Davis 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
SULEIMAN-EL-HATTAB SYNDROME
Supernumerary Der(22)t(8;22) Syndrome
syndromic intellectual disability +
syndromic microphthalmia 1
syndromic microphthalmia 9
Takenouchi-Kosaki Syndrome
Teebi hypertelorism syndrome +
Temple-Baraitser syndrome
temtamy preaxial brachydactyly syndrome
Tessadori-van Haaften Neurodevelopmental Syndrome 1
THAUVIN-ROBINET-FAIVRE SYNDROME
Thomas Jewett Raines Syndrome
Thoraco Limb Dysplasia Rivera Type
Thoracolaryngopelvic Dysplasia
Thymic Aplasia with Fetal Death
Tolchin-Le Caignec Syndrome
Tollner Horst Manzke Syndrome
Tricho-Dento-Osseous Syndrome 1
Triphalangeal Thumbs with Brachyectrodactyly
Tryptophanuria with Dwarfism
Ulnar Hypoplasia with Mental Retardation
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Van den Ende-Gupta syndrome
Vasquez Hurst Sotos Syndrome
Velofacioskeletal Syndrome
Verloes Gillerot Fryns Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +
VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Warburton Anyane Yeboa Syndrome
Weill-Marchesani syndrome +
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Wiedemann-Steiner syndrome
Williams-Beuren syndrome +
Winship Viljoen Leary Syndrome
Winter Harding Hyde Syndrome
Woodhouse-Sakati syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
X-Linked Intellectual Developmental Disorders +
Yemenite Deaf-Blind Hypopigmentation Syndrome
Yoon-Bellen neurodevelopmental syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zimmerman Laband Syndrome +
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| Synonyms |
| Exact Synonyms: |
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting
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| Primary IDs: |
MESH:C566989
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| Alternate IDs: |
OMIM:605856
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