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16p11.2 Deletion Syndrome
Abruzzo-Erickson syndrome
Absent Eyebrows and Eyelashes with Mental Retardation
Achromatopsia Incomplete, X-Linked
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Al Gazali Aziz Salem Syndrome
Alacrima, Achalasia, and Mental Retardation 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
alpha-thalassemia myelodysplasia syndrome
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
Amyotrophic Dystonic Paraplegia
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
Ansell Bywaters Elderking Syndrome
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation
Arthrogryposis, Mental Retardation, and Seizures
Arthrogryposis, X-Linked, Type V
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant mental retardation 50
autosomal dominant mental retardation 55
autosomal dominant mental retardation 56
autosomal recessive cutis laxa type III +
autosomal recessive intellectual developmental disorder-72
autosomal recessive limb-girdle muscular dystrophy type 2P
autosomal recessive spinocerebellar ataxia 12
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Bellini Chiumello Rimoldi Syndrome
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Boudhina Yedes Khiari syndrome
Brachycephaly, Trichomegaly, and Developmental Delay
branched-chain keto acid dehydrogenase kinase deficiency
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
Camera Marugo Cohen Syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cartwright Nelson Fryns Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
cerebellofaciodental syndrome
cerebral cavernous malformation 2
cerebral cavernous malformation 3
Cerebral Visual Impairment and Intellectual Disability
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Cerebrocortical Degeneration of Infancy
cerebrocostomandibular syndrome
Cerebrofaciothoracic Dysplasia
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 4
Cerebrooculonasal Syndrome
childhood spinal muscular atrophy +
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
Cleft Palate with Ankyloglossia
Cochlear Deafness with Myopia and Intellectual Impairment
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
combined T cell and B cell immunodeficiency +
Cone Dystrophy, X-Linked, with Tapetal-like Sheen
Congenital Adrenal Hypoplasia with Precocious Puberty
Congenital Alopecia X-Linked
congenital bilateral absence of vas deferens +
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 Heart Defects, X-Linked +
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation
congenital hypogammaglobulinemia
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation 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 Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
Congenital Ptosis, Hereditary 2
Congenital Symmetric Circumferential Skin Creases +
Cornelia de Lange syndrome +
corpus callosum agenesis-abnormal genitalia syndrome
Cortical Blindness, Retardation, and Postaxial Polydactyly
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation 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
De Sanctis-Cacchione syndrome
Deafness, Congenital Onychodystrophy, Recessive Form
Deafness, High-Frequency Sensorineural, X-Linked
deafness-dystonia-optic neuronopathy syndrome
deafness-intellectual disability, Martin-Probst type syndrome
developmental and epileptic encephalopathy 9
developmental delay and seizures with or without movement abnormalities
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
dicarboxylic aminoaciduria
Dilated Cardiomyopathy 3A
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
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, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dysmyelination with Jaundice
Dystonia Musculorum Deformans +
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Elliott Ludman Teebi Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epidermodysplasia Verruciformis, X-Linked
Epilepsy, Hearing Loss, and Mental Retardation Syndrome
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
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 Amyloid Polyneuropathies +
Familial Convulsive Disorder with Prenatal or Early Onset
familial encephalopathy with neuroserpin inclusion bodies
Feingold Trainer Syndrome
Fetal Akinesia Syndrome, X-Linked
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Focal Epilepsy with Speech Disorder and with or without Mental Retardation
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Gerstmann-Straussler-Scheinker syndrome
Gilles de la Tourette syndrome +
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
glycogen storage disease VIII
Glycosylphosphatidylinositol Biosynthesis Defect 16
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Growth Mental Deficiency Syndrome of Myhre
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Gurrieri Sammito Bellussi Syndrome
Hair Defect with Photosensitivity and Mental Retardation
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Optic Atrophies +
hereditary sensory neuropathy +
hereditary spastic paraplegia 11
hereditary spastic paraplegia 14
hereditary spastic paraplegia 18
hereditary spastic paraplegia 32
Hittner Hirsch Kreh Syndrome
Hodgkin Disease, X-Linked Pseudoautosomal
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Huntington's disease-like 2
Huntington's Disease-Like Syndrome
Hydrocephalus with Cerebellar Agenesis
Hyperleucine-Isoleucinemia
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria
hypermethioninemia due to adenosine kinase deficiency
Hyperphosphatasia with Mental Retardation +
Hypertrichosis Congenital Generalized X-Linked
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
Hypomagnesemia, Seizures, and Mental Retardation +
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
intellectual disability-severe speech delay-mild dysmorphism syndrome
Intracranial Berry Aneurysm 5
Isolated Microphthalmia with Coloboma 1
Isolated Noncompaction of the Ventricular Myocardium +
Jagell Holmgren Hofer Syndrome
Johanson-Blizzard syndrome
Kaler Garrity Stern Syndrome
Karandikar Maria Kamble Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Kaufman oculocerebrofacial syndrome
Koone Rizzo Elias Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
Kuzniecky Andermann Syndrome
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation
Lenz-Majewski hyperostotic dwarfism
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
Light Fixation Seizure Syndrome
Lipodystrophy with Congenital Cataracts and Neurodegeneration
Lubani Al Saleh Teebi 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
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megalencephalic leukoencephalopathy with subcortical cysts 2B
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
Membranoproliferative Glomerulonephritis, X-Linked
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 + A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Methionine Malabsorption Syndrome
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Cervical Spine Fusion Anomalies
Microcephaly Deafness Syndrome
Microcephaly Microcornea Syndrome Seemanova Type
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly 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
Microphthalmia and Mental Deficiency
Midline Defects, X-Linked
Mirhosseini-Holmes-Walton Syndrome
mitochondrial DNA depletion syndrome 6
Mollica Pavone Antener Syndrome
Morillo-Cucci Passarge Syndrome
motor peripheral neuropathy +
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
Multiple Pterygium Syndrome, X-Linked
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
Myopia 26, X-Linked, Female-Limited
Myotonia with Skeletal Abnormalities and Mental Retardation
myotonic dystrophy type 1 +
NEMO Mutation with Immunodeficiency
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
Neural Tube Defects X-Linked
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
neurodevelopmental disorder with midbrain and hindbrain malformations
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills
Neurofaciodigitorenal Syndrome
neurogenic scapuloperoneal syndrome Kaeser type
neuronal ceroid lipofuscinosis +
NF1 Microduplication Syndrome
Nicolaides Baraitser Syndrome
non-syndromic intellectual disability +
nonprogressive cerebellar ataxia with mental retardation
Nystagmus 5, Infantile Periodic Alternating
Okur-Chung Neurodevelopmental Syndrome
Oliver-McFarlane syndrome
Onychotrichodysplasia and Neutropenia
Opticocochleodentate Degeneration
ornithine carbamoyltransferase deficiency
Osteolysis Syndrome, Recessive
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Palant Cleft Palate Syndrome
pantothenate kinase-associated neurodegeneration +
Partial Agenesis of Corpus Callosum, X-Linked
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patella Hypoplasia Mental Retardation
Pavone Fiumara Rizzo Syndrome
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Perniola Krajewska Carnevale Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Tietze Welte Syndrome
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
photosensitive trichothiodystrophy 1
Pitt-Hopkins-like syndrome 2
Piussan Lenaerts Mathieu syndrome
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
primary cerebellar degeneration +
primary ovarian insufficiency 1
primary ovarian insufficiency 4
Progressive Muscular Dystrophy, Pectorodorsal
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
Progressive Psychomotor Deterioration
Progressive Vitiligo with Mental Retardation and Urethral Duplication
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
Prostate Cancer, Hereditary, X-Linked 1
Prostate Cancer, Hereditary, X-Linked 2
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Pseudoaminopterin Syndrome
Pseudouridinuria and Mental Defect
Radial Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radioulnar Synostosis Retinal Pigment Abnormalities
Radius Absent Anogenital Anomalies
Ramos Arroyo Clark Syndrome
Reardon Wilson Cavanagh Syndrome
reducing body myopathy 1B
Reticuloendotheliosis, X-Linked
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Ritscher-Schinzel syndrome 2
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
Rubinstein-Taybi syndrome +
Russell-Silver Syndrome, X-Linked
Ruzicka Goerz Anton syndrome
Sammartino De Crecchio Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Scaphocephaly, Maxillary Retrusion, and Mental Retardation
Schinzel-Giedion Syndrome
Schofer Beetz Bohl Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Sclerosing Bone Dysplasia, Mental Retardation
Selective Tooth Agenesis, X-Linked, 1
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SIFRIM-HITZ-WEISS SYNDROME
Simpson-Golabi-Behmel syndrome type 1
Singh Chhaparwal Dhanda Syndrome
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Sketetal Dysplasia Coarse Facies Mental Retardation
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
spinal muscular atrophy with lower extremity predominance +
Spinal Muscular Atrophy with Mental Retardation
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
split hand-foot malformation 2
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Genevieve-type
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Spondylometaphyseal Dysplasia, X-Linked
Spongiform Encephalopathy with Neuropsychiatric Features
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
Surfactant Metabolism Dysfunction, Pulmonary, 4
syndromic intellectual disability +
syndromic microphthalmia 10
syndromic microphthalmia 13
Takenouchi-Kosaki Syndrome
Tatton-Brown-Rahman Syndrome
Temple-Baraitser syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
Testicular Germ Cell Tumor 1
THAUVIN-ROBINET-FAIVRE SYNDROME
Thrombocythemia, X-Linked
Thyroxine-Binding Globulin Deficiency +
Tolchin-Le Caignec Syndrome
Torticollis Keloids Cryptorchidism Renal Dysplasia
Tryptophanuria with Dwarfism
Ulnar Hypoplasia with Mental Retardation
Unverricht-Lundborg syndrome +
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Vasquez Hurst Sotos Syndrome
Verloes Gillerot Fryns Syndrome
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Von Willebrand Disease, X-Linked Form
Warburton Anyane Yeboa Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Williams-Beuren syndrome +
Winship Viljoen Leary Syndrome
Woodhouse-Sakati Syndrome
X Inactivation, Familial Skewed, 1
X Inactivation, Familial Skewed, 2
X-Linked Anemia without Thrombocytopenia
X-linked cardiac valvular dysplasia
X-linked cleft palate with or without ankyloglossia
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked congenital myopathy with fiber-type disproportion
X-linked dilated cardiomyopathy
X-linked dominant disease +
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked exudative vitreoretinopathy 2
X-linked hereditary ataxia +
X-Linked Hypogammaglobulinemia
X-linked hypoparathyroidism
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
X-Linked Macular Dystrophy +
X-Linked Modifier for Neurofunctional Defects
X-linked nonsyndromic deafness +
X-linked panhypopituitarism
X-linked recessive disease +
X-linked reticulate pigmentary disorder
X-linked retinitis pigmentosa and sinorespiratory infections
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
X-Linked Thrombocytopenia, Intermittent
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
X-linked thrombophilia due to factor IX defect
X-Linked Vesicoureteral Reflux
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
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