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16p11.2 Deletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
Absent Eyebrows and Eyelashes with Mental Retardation
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
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-B Crystallinopathy with Cataract
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
Amyotrophic Dystonic Paraplegia
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
Ansell Bywaters Elderking Syndrome
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation
Arthrogryposis and Ectodermal Dysplasia
arthrogryposis due to muscular dystrophy
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Arthrogryposis Multiplex Congenita 5
Arthrogryposis Multiplex Congenita Whistling Face
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Arthrogryposis, Mental Retardation, and Seizures
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Arthrogryposis, X-Linked, Type V
Asymmetric Short Stature Syndrome
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Ataxia-Microcephaly-Cataract 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 Nonsyndromic Congenital Nuclear Cataract
autosomal recessive spinocerebellar ataxia 12
Axenfeld-Rieger syndrome type 1
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Bellini Chiumello Rimoldi Syndrome
Bhaskar Jagannathan Syndrome
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Boudhina Yedes Khiari syndrome
Boylan Dew Greco Syndrome
Brachycephaly, Trichomegaly, and Developmental Delay
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
branched-chain keto acid dehydrogenase kinase deficiency
Branchial Cleft Anomalies
Bullous Dystrophy, Hereditary Macular Type
Camera Marugo Cohen Syndrome
Camptodactyly Syndrome Guadalajara Type 2
Camptodactyly-Ichthyosis Syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement
Cardioacrofacial Dysplasia +
Cartwright Nelson Fryns Syndrome
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types +
cataract 12 multiple types
cataract 13 with adult i phenotype
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 19 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 26 multiple types
cataract 3 multiple types
cataract 31 multiple types
cataract 32 multiple types
cataract 34 multiple types
cataract 39 multiple types
cataract 4 multiple types +
cataract 46 juvenile-onset
cataract 5 multiple types
cataract 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cataract and Congenital Ichthyosis
Cataract Microcornea Syndrome
Cataract, Age-Related Nuclear
Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Recessive Congenital 1
Cataract, Congenital Dominant Non Nuclear
Cataract, Cortical Pulverulent, Late-Onset
Cataract, Crystalline Coralliform
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataract, Polymorphic and Lamellar
Cataract, Posterior Polar, 5
Cataract, Progressive Polymorphic Cortical
Cataract, Sutural, with Punctate and Cerulean Opacities
Cataract, Variable Zonular Pulverulent
Cataract, Zonular Central Nuclear
Cataracts, Ataxia, Short Stature, and Mental Retardation
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
Cerebellofaciodental Syndrome
cerebral cavernous malformation 2
cerebral cavernous malformation 3
Cerebral Visual Impairment and Intellectual Disability
cerebrocostomandibular syndrome
Cerebrofaciothoracic Dysplasia
Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 3
Cerebrooculofacioskeletal Syndrome 4
Cerebrooculonasal 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 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 1q21.1 duplication syndrome
chromosome 2p16.1-p15 deletion 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, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cochlear Deafness with Myopia and Intellectual Impairment
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
combined oxidative phosphorylation deficiency 2
Congenital Arthrogryposis with Anterior Horn Cell Disease
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
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 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
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
Congenital Neuropathy with Arthrogryposis Multiplex
Congenital Symmetric Circumferential Skin Creases +
Cornea Guttata with Anterior Polar Cataract
Cornelia de Lange syndrome +
corpus callosum agenesis-abnormal genitalia syndrome
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Cortical Blindness, Retardation, and Postaxial Polydactyly
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic 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
Curly Hair-Acral Keratoderma-Caries Syndrome
Cutis Verticis Gyrata and Mental Deficiency
Cyprus Facial Neuromusculoskeletal Syndrome
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
De Sanctis-Cacchione syndrome
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness, Congenital Onychodystrophy, Recessive Form
deafness-dystonia-optic neuronopathy syndrome
developmental and epileptic encephalopathy 9
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
Diaphanospondylodysostosis
dicarboxylic aminoaciduria
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 6
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
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ehlers-Danlos syndrome musculocontractural type 2
Elliott Ludman Teebi Syndrome
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epilepsy, Hearing Loss, and Mental Retardation Syndrome
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Faciocardiomelic Syndrome
Fallot Complex with Severe Mental and Growth Retardation
Familial Convulsive Disorder with Prenatal or Early Onset
Feingold Trainer Syndrome
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Focal Epilepsy with Speech Disorder and with or without Mental Retardation
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Glycosylphosphatidylinositol Biosynthesis Defect 16
Goldberg-Shprintzen syndrome
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 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
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
hereditary neuropathy with liability to pressure palsies
hereditary spastic paraplegia 11
hereditary spastic paraplegia 14
hereditary spastic paraplegia 18
hereditary spastic paraplegia 32
hereditary spastic paraplegia 9A
High Myopia with Cataract and Vitreoretinal Degeneration
Hittner Hirsch Kreh Syndrome
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Humeroradial Synostosis with Craniofacial Anomalies
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperferritinemia-cataract syndrome
Hyperleucine-Isoleucinemia
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria
hypermethioninemia due to adenosine kinase deficiency
Hyperphosphatasia with Mental Retardation +
Hypertrophic Neuropathy and Cataract
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
Hypomagnesemia, Seizures, and Mental Retardation +
hypomyelinating leukodystrophy 5
hypoparathyroidism-retardation-dysmorphism syndrome
Hypospadias-Mental Retardation Syndrome
hypotonia-cystinuria syndrome
Ichthyosis and Male Hypogonadism
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
Ichthyosis, Spastic Quadriplegia, and Mental Retardation
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
immunodeficiency-centromeric instability-facial anomalies 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 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 Microphthalmia with Cataract 1
Isolated Microphthalmia with Cataract 2
Isolated Microphthalmia with Cataract 3
Isolated Microphthalmia with Cataract 4
ITM2B-related cerebral amyloid angiopathy 2
Jagell Holmgren Hofer Syndrome
Jequier Kozlowski Skeletal Dysplasia
Johanson-Blizzard syndrome
Johnston Aarons Schelley Syndrome
Jones Hersh Yusk Syndrome
Kaler Garrity Stern Syndrome
Karandikar Maria Kamble Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Koone Rizzo Elias Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
Kuzniecky Andermann Syndrome
Ladda Zonana Ramer syndrome
Larsen-like syndrome B3GAT3 type
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation
Leg, Absence Deformity of, with Congenital Cataract
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
Light Fixation Seizure Syndrome
linear skin defects with multiple congenital anomalies 2
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
Mandibuloacral Dysplasia Progeroid Syndrome
Mandibuloacral Dysplasia with Type B Lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Mandibulofacial Dysostosis with Mental Deficiency
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Mental Retardation Syndrome, Autosomal
Marinesco-Sjogren syndrome
Massa Casaer Ceulemans Syndrome
Maxillofacial Abnormalities +
megalencephalic leukoencephalopathy with subcortical cysts 2B
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, 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 +
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Methionine Malabsorption Syndrome
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, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1
Microphthalmia and Mental Deficiency
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Microphthalmia, Cataracts, and Iris Abnormalities
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Minicore Myopathy, Antenatal Onset, with Arthrogryposis
Mirhosseini-Holmes-Walton Syndrome
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mollica Pavone Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mousa Al din Al Nassar Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
Multiple Pterygium Syndrome, Lethal Type
Multisystem Autoimmune Disease with Facial Dysmorphism
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
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myopathy, Cataract, Hypogonadism Syndrome
Myotonia with Skeletal Abnormalities and Mental Retardation
Nablus Mask-Like Facial Syndrome
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
Neurofaciodigitorenal Syndrome
neurogenic arthrogryposis multiplex congenita +
NF1 Microduplication Syndrome
Nicolaides Baraitser Syndrome
non-syndromic intellectual disability +
nonprogressive cerebellar ataxia with mental retardation
Noonan syndrome with multiple lentigines +
O'Donnell Pappas Syndrome
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Oculoskeletodental Syndrome
Okur-Chung Neurodevelopmental Syndrome
Oliver-McFarlane syndrome
Onychotrichodysplasia and Neutropenia
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Osteolysis Syndrome, Recessive
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Palant Cleft Palate Syndrome
palmoplantar keratoderma and congenital alopecia 2
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patella Hypoplasia Mental Retardation
Pavone Fiumara Rizzo Syndrome
Pelvic Dysplasia Arthrogryposis of Lower Limbs
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
Perniola Krajewska Carnevale Syndrome
Peters Anomaly with Cataract
Pfeiffer Kapferer Syndrome
Pfeiffer Tietze Welte Syndrome
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
photosensitive trichothiodystrophy 1
Piussan Lenaerts Mathieu syndrome
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
Polycystic Kidney, Cataract, and Congenital Blindness
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
Premature Aging, Okamoto Type
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
Progressive Vitiligo with Mental Retardation and Urethral Duplication
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
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
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Ray Peterson Scott Syndrome
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh Syndrome
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay
Ritscher-Schinzel syndrome +
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
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Ruzicka Goerz Anton syndrome
Sammartino De Crecchio Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Scaphocephaly, Maxillary Retrusion, and Mental Retardation
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Schinzel-Giedion Syndrome
Schofer Beetz Bohl Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Sclerosing Bone Dysplasia, Mental Retardation
Seckel Like Syndrome Type Buebel
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Short Stature and Facioauriculothoracic Malformations
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
Short Stature-Obesity Syndrome
SIFRIM-HITZ-WEISS SYNDROME
Silver-Russell syndrome +
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 1
Singh Chhaparwal Dhanda Syndrome
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Sketetal Dysplasia Coarse Facies Mental Retardation
Slavotinek Pike Mills Hurst 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
Spinal Muscular Atrophy with Mental Retardation
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
Splenogonadal Fusion Limb Defects Micrognatia
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
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
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
Spondyloocular Syndrome, Autosomal Recessive
Spranger Schinzel Myers 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
syndromic intellectual disability +
syndromic microphthalmia 2
syndromic X-linked intellectual disability Abidi type
Takenouchi-Kosaki Syndrome
Tatton-Brown-Rahman Syndrome
Temple-Baraitser syndrome
temtamy preaxial brachydactyly syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME
Tolchin-Le Caignec Syndrome
Tollner Horst Manzke Syndrome
trichodontoosseous syndrome
Tryptophanuria with Dwarfism
Ulnar Hypoplasia with Mental Retardation
Urioste Martinez-Frias Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Vasquez Hurst Sotos Syndrome
Verloes Gillerot Fryns Syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Warburton Anyane Yeboa Syndrome
Wellesley Carmen French Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Williams-Beuren syndrome +
Winship Viljoen Leary Syndrome
Winter Shortland Temple Syndrome
Woodhouse-Sakati Syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zimmerman Laband Syndrome +
Zonular Cataract and Nystagmus
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