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Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
acrocardiofacial syndrome
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
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 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
Amish Lethal Microcephaly
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
Amyotrophic Dystonic Paraplegia
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Ansell Bywaters Elderking Syndrome
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Aphalangia Syndactyly Microcephaly
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Arthrogryposis, Impaired Intellectual Development, and Seizures
Asparagine Synthetase Deficiency
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 intellectual developmental disorder +
autosomal dominant microcephaly +
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
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Bellini Chiumello Rimoldi Syndrome
Bifid Femur with Monodactylous Ectrodactyly
bilateral perisylvian polymicrogyria +
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
blepharophimosis-impaired intellectual development syndrome
Boudhina Yedes Khiari syndrome
brachycephaly, trichomegaly, and developmental delay
Brachydactyly, Type A2, With Microcephaly
branched-chain keto acid dehydrogenase kinase deficiency
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
Camera Marugo Cohen Syndrome
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Camptodactyly Syndrome Guadalajara Type +
Camptodactyly Vertebral Fusion
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cardiofacioneurodevelopmental Syndrome
Carnevale Hernandez Castillo Syndrome
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
Cartwright Nelson Fryns Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
cerebellar ataxia, impaired intellectual development, and dysequilibrium 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
Chitayat Meunier Hodgkinson Syndrome
Choroid Plexus Calcification with Mental Retardation
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 593-kb
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 1q21.1 duplication syndrome
chromosome 2q31.2 deletion syndrome
chromosome 3q29 microdeletion syndrome
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Chudley-Rozdilsky Syndrome
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate, cardiac defects, and intellectual disabillity
Cochlear Deafness with Myopia and Intellectual Impairment
cold-induced sweating syndrome +
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Complex Camptosynpolydactyly
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
congenital disorder of deglycosylation 2
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
Congenital 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
Cranioacrofacial Syndrome
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
Craniofaciofrontodigital Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
Craniosynostosis, Adelaide Type
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation 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
Daneman Davy Mancer Syndrome
De Sanctis-Cacchione syndrome
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Congenital Onychodystrophy, Recessive Form
deafness-dystonia-optic neuronopathy syndrome
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
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 1 +
distal arthrogryposis type 3
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, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dysmyelination with Jaundice
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly-Cleft Palate Syndrome
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Extensor Tendons of Fingers, Anomalous Insertion of
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
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
Feingold Trainer Syndrome
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Focal Epilepsy with Speech Disorder and with or without Mental Retardation
Forsythe-Wakeling Syndrome
Frints De Smet Fabry Fryns Syndrome
Frontootopalatodigital Osteodysplasia
Galloway-Mowat 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
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Growth Mental Deficiency Syndrome of Myhre
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
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
Heart-Hand Syndrome, Slovenian Type
hereditary spastic paraplegia 11
hereditary spastic paraplegia 14
hereditary spastic paraplegia 18
hereditary spastic paraplegia 32
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
Hittner Hirsch Kreh Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Hyperleucine-Isoleucinemia
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria
hypermethioninemia due to adenosine kinase deficiency
hypertelorism, microtia, facial clefting syndrome
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +
hypoparathyroidism-retardation-dysmorphism syndrome
Hypospadias-Mental Retardation Syndrome
hypotonia-cystinuria syndrome
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
Impaired intellectual development, anterior maxillary protrusion, and strabismus
Indolylacroyl Glycinuria with Mental Retardation
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
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
Jagell Holmgren Hofer Syndrome
Johanson-Blizzard syndrome
Kaler Garrity Stern Syndrome
Karandikar Maria Kamble Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Kaufman oculocerebrofacial syndrome
KOHLSCHUTTER-TONZ SYNDROME-LIKE
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
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
linear skin defects with multiple congenital anomalies 2
Lubani Al Saleh Teebi Syndrome
Lynch Lee Murday syndrome
MacDermot Winter 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
Mammary-Digital-Nail Syndrome
Mandibulofacial Dysostosis with Mental Deficiency
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Marfanoid Mental Retardation Syndrome, Autosomal
Marinesco-Sjogren syndrome
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, 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
Metaphyseal Acroscyphodysplasia
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Methionine Malabsorption Syndrome
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Deafness Syndrome
Microcephaly Microphthalmos Blindness
Microcephaly Nonsyndromal
Microcephaly Pontocerebellar Hypoplasia Dyskinesia
Microcephaly Seizures Genital Hypoplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
Microcephaly with Chorioretinopathy, Autosomal Dominant
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly with Simplified Gyral Pattern
Microcephaly with Spastic Quadriplegia
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Epilepsy, and Diabetes Syndrome +
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
microcephaly, seizures, and developmental delay
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microcephaly-Capillary Malformation Syndrome
microcephaly-micromelia syndrome
Microphthalmia and Mental Deficiency
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Mollica-Pavone-Antener Syndrome
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Muller Barth Menger Syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
multiple benign circumferential skin creases on limbs +
multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
muscular dystrophy-dystroglycanopathy type B1
muscular dystrophy-dystroglycanopathy type B14
muscular dystrophy-dystroglycanopathy type B2
muscular dystrophy-dystroglycanopathy type B3
muscular dystrophy-dystroglycanopathy type B6
Myotonia with Skeletal Abnormalities and Mental Retardation
Nabais Sa-de Vries Syndrome, Type 1
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
Neurofaciodigitorenal Syndrome
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
Nijmegen Breakage Syndrome-Like Disorder
non-syndromic intellectual disability +
nonprogressive cerebellar ataxia with mental retardation
Oculopalatocerebral Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
Okur-Chung Neurodevelopmental Syndrome
Oliver-McFarlane syndrome
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Onychotrichodysplasia and Neutropenia
Oroacral Syndrome, Verloes-Koulischer Type
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Osteolysis Syndrome, Recessive
otopalatodigital syndrome spectrum disorder +
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Palant Cleft Palate Syndrome
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Partington Anderson Syndrome
Patella Hypoplasia Mental Retardation
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Pavone Fiumara Rizzo Syndrome
Perniola Krajewska Carnevale Syndrome
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
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Progeroid Facial Appearance with Hand Anomalies
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
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
Pseudotrisomy 13 Syndrome
Pseudouridinuria and Mental Defect
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications 1
Ramos Arroyo Clark Syndrome
Reardon Wilson Cavanagh Syndrome
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Rhizomelic Dysplasia Patterson Lowry Type
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira 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
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Ruzicka Goerz Anton syndrome
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Field Coldwell Syndrome
Say-Barber-Miller Syndrome
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development
Schimke X-Linked Mental Retardation Syndrome
Schinzel Giedion syndrome
Schofer Beetz Bohl Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Sclerosing Bone Dysplasia, Mental Retardation
Second Metatarsal-Metacarpal Syndrome
Secretory Diarrhea, Myopathy, and Deafness
Seizures, Cortical Blindness, and Microcephaly Syndrome
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
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
Silengo Lerone Pelizza 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, Optic Atrophy, Microcephaly, and XY Sex Reversal
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, Split Foot, Nystagmus
split hand-foot malformation 1 with sensorineural hearing loss
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepiphyseal dysplasia tarda with intellectual disability
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Stoll Alembik Dott Syndrome
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
Sucrosuria, Hiatus Hernia and Mental Retardation
Supernumerary Der(22)t(8;22) Syndrome
Symphalangism with Multiple Anomalies of Hands and Feet
Symphalangism, C. S. Lewis Type
syndromic intellectual disability +
syndromic microphthalmia 13
syndromic microphthalmia 8
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
Takenouchi-Kosaki Syndrome
tarsal-carpal coalition syndrome +
Teebi hypertelorism syndrome +
Tel Hashomer Camptodactyly Syndrome
Temple-Baraitser syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
THAUVIN-ROBINET-FAIVRE SYNDROME
Tolchin-Le Caignec Syndrome
Tollner Horst Manzke Syndrome
Total Anonychia with Microcephaly
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Tryptophanuria with Dwarfism
Ulnar Hypoplasia with Mental Retardation
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Vasquez Hurst Sotos Syndrome
Ventricular Extrasystoles Perodactyly Robin Sequence
Verloes Gillerot Fryns Syndrome
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Warburton Anyane Yeboa Syndrome
Weyers Ulnar Ray/Oligodactyly Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Wiedemann-Steiner syndrome
Williams-Beuren syndrome +
Winship Viljoen Leary Syndrome
Woodhouse-Sakati syndrome
X-Linked Intellectual Developmental Disorders +
Yoon-Bellen neurodevelopmental syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zimmerman Laband Syndrome +
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