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10p Deletion Syndrome (partial)
22q11 Deletion Syndrome +
Abruzzo-Erickson syndrome
Absent Eyebrows and Eyelashes with Mental Retardation
Achromatopsia Incomplete, X-Linked
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 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
alpha-thalassemia myelodysplasia syndrome
Alport Syndrome-Like Hereditary Nephritis
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
AMME complex A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. (DO)
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 Multiplex Congenita Whistling Face
Arthrogryposis, Impaired Intellectual Development, and Seizures
Arthrogryposis, X-Linked, Type V
Asymmetric Short Stature Syndrome
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant Alport syndrome
autosomal dominant intellectual developmental disorder +
autosomal dominant intellectual developmental disorder 22
autosomal recessive Alport syndrome
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 syndrome type 1
Axenfeld-Rieger syndrome type 2
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
bilateral perisylvian polymicrogyria +
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
blepharophimosis-impaired intellectual development syndrome
Boudhina Yedes Khiari 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 Arch Syndrome X-Linked
Branchial Cleft Anomalies
Bullous Dystrophy, Hereditary Macular Type
Camera Marugo Cohen Syndrome
Camptodactyly Syndrome Guadalajara Type 2
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cardioacrofacial Dysplasia +
Cartwright Nelson Fryns Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebellofaciodental syndrome
cerebral cavernous malformation 2
cerebral cavernous malformation 3
Cerebral Visual Impairment and Intellectual Disability
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
cerebrocostomandibular syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Choroid Plexus Calcification with Mental Retardation
chromosome 10q23 deletion syndrome
Chromosome 11p Deletion Syndrome
Chromosome 13q Deletion Syndrome +
chromosome 13q14 deletion syndrome
Chromosome 13q33-q34 Deletion Syndrome
chromosome 14q11-q22 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
Chromosome 15q14 Deletion Syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 220-kb
chromosome 16p11.2 deletion syndrome, 593-kb
chromosome 16p12.1 deletion syndrome
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 16q22 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
chromosome 1q41-q42 deletion syndrome +
chromosome 2p12-p11.2 deletion syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 2q37 deletion syndrome
chromosome 3q13.31 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 4q21 deletion syndrome
chromosome 5q deletion syndrome
chromosome 5q12 deletion syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 6q11-q14 deletion syndrome
chromosome 6q24-q25 deletion syndrome
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
chromosome 8q21.11 deletion syndrome
chromosome 9p deletion syndrome
chromosome Xp21 deletion syndrome
Chromosome Xq21 Deletion Syndrome
Chromosome Xq28 Duplication Syndrome
Chudley-Rozdilsky Syndrome
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate with Ankyloglossia
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
Cochlear Deafness with Myopia and Intellectual Impairment
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
combined oxidative phosphorylation deficiency 2
combined T cell and B cell immunodeficiency +
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 Cataracts, Facial Dysmorphism, and Neuropathy
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 Heart Defects, X-Linked +
congenital hypogammaglobulinemia
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital limbs-face contractures-hypotonia-developmental delay 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 Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
Congenital Ptosis, Hereditary 2
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 dysmorphism, skeletal anomalies, and mental retardation syndrome +
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 Impaired Intellectual Development and Unusual Facies
Curatolo Cilio Pessagno Syndrome
Curly Hair-Acral Keratoderma-Caries 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-optic neuronopathy syndrome
developmental and epileptic encephalopathy 9
developmental and epileptic encephalopathy 90
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
Diaphanospondylodysostosis
dicarboxylic aminoaciduria
Dilated Cardiomyopathy 3A
diphthamide deficiency syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal 10q deletion syndrome
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 WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Elliott Ludman Teebi Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epidermodysplasia Verruciformis, X-Linked
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
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
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
fetal akinesia deformation sequence syndrome X-linked
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
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 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
Hengel-Maroofian-Schols syndrome
hereditary nonpolyposis colorectal cancer type 8
Hereditary Pyropoikilocytosis
hereditary spastic paraplegia 11
hereditary spastic paraplegia 14
hereditary spastic paraplegia 18
hereditary spastic paraplegia 32
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
High-Frequency Deafness, Sensorineural, X-Linked
Hittner Hirsch Kreh Syndrome
Hodgkin Disease, X-Linked Pseudoautosomal
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Homozygous 11p15-p14 Deletion Syndrome
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Humeroradial Synostosis with Craniofacial Anomalies
Hydrocephalus with Cerebellar Agenesis
Hyperleucine-Isoleucinemia
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria
hypermethioninemia due to adenosine kinase deficiency
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 INTELLECTUAL DISABILITY +
hypoparathyroidism-deafness-renal disease syndrome
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 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
intracranial berry aneurysm 5
Isolated Noncompaction of the Ventricular Myocardium +
Jagell Holmgren Hofer Syndrome
Jequier Kozlowski Skeletal Dysplasia
Johanson-Blizzard syndrome
Jones Hersh Yusk Syndrome
Kaler Garrity Stern Syndrome
Karandikar Maria Kamble Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
KOHLSCHUTTER-TONZ SYNDROME-LIKE
Koone Rizzo Elias Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
Kuzniecky Andermann Syndrome
Larsen-like syndrome B3GAT3 type
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation
Leichtman Wood Rohn Syndrome
LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME
Lenz-Majewski hyperostotic dwarfism
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
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 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
Maxillofacial Abnormalities +
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, 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 Dysostosis, Mental Retardation, and Conductive Deafness
Methionine Malabsorption Syndrome
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Deafness Syndrome
Microcephaly Microcornea Syndrome Seemanova Type
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, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microcephaly, Macrotia, and Mental Retardation
Microphthalmia and Mental Deficiency
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Microphthalmia/Coloboma 1
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Midline Defects, X-Linked
Miller-Dieker lissencephaly syndrome
Mirhosseini-Holmes-Walton Syndrome
Mollica Pavone Antener Syndrome
Monosomy 7 Myelodysplasia and Leukemia Syndrome +
Morillo-Cucci Passarge Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
multiple benign circumferential skin creases on limbs +
multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
Multiple Pterygium Syndrome, X-Linked
Multisystem Autoimmune Disease with Facial Dysmorphism
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
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myopia 26, X-Linked, Female-Limited
Myotonia with Skeletal Abnormalities and Mental Retardation
Nablus Mask-Like Facial Syndrome
NEMO Mutation with Immunodeficiency
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
Neural Tube Defects X-Linked
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
non-syndromic intellectual disability +
nonprogressive cerebellar ataxia with mental retardation
Noonan syndrome with multiple lentigines +
Nystagmus 5, Infantile Periodic Alternating
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Okur-Chung Neurodevelopmental Syndrome
Oliver-McFarlane syndrome
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Onychotrichodysplasia and Neutropenia
Orbital Margin, Hypoplasia of
ornithine carbamoyltransferase deficiency
orofaciodigital syndrome +
Osteolysis Syndrome, Recessive
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
Ovalocytosis, Hereditary Hemolytic
Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis
Ovalocytosis, Malaysian-Melanesian-Filipino Type
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Palant Cleft Palate Syndrome
Partial Agenesis of Corpus Callosum, X-Linked
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patella Hypoplasia Mental Retardation
Pavone Fiumara Rizzo Syndrome
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
Piussan Lenaerts Mathieu syndrome
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
posterior amorphous corneal dystrophy
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
primary ovarian insufficiency 1
Progressive Muscular Dystrophy, Pectorodorsal
Progressive Nephropathy with Deafness
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
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
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Pulmonary Surfactant Metabolism Dysfunction 4
Radial Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Radioulnar Synostosis Retinal Pigment Abnormalities
Radius Absent Anogenital Anomalies
Ramos Arroyo Clark Syndrome
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh Syndrome
reducing body myopathy 1B
Reticuloendotheliosis, X-Linked
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
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
Rozin Hertz Goodman Syndrome
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 Impaired Intellectual Development
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
Selective Tooth Agenesis, X-Linked, 1
Sensorineural Deafness and Male Infertility
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, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity 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
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 with Limb Defects and Micrognathia
split hand-foot malformation 2
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
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
Spondylometaphyseal Dysplasia, X-Linked
Spondyloocular Syndrome, Autosomal Recessive
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
syndromic intellectual disability +
syndromic microphthalmia 13
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Systemic Autoinflammatory Disease, X-Linked
Takenouchi-Kosaki Syndrome
Teebi hypertelorism syndrome +
Temple-Baraitser syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Testicular Germ Cell Tumor 1
THAUVIN-ROBINET-FAIVRE SYNDROME
Thrombocythemia, X-Linked
thrombocytopenia-absent radius syndrome
Thyroxine-Binding Globulin Deficiency +
Tolchin-Le Caignec Syndrome
Tollner Horst Manzke Syndrome
Torticollis Keloids Cryptorchidism Renal Dysplasia
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
Von Willebrand Disease, X-Linked Form
Warburton Anyane Yeboa Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Wiedemann-Steiner syndrome
Williams-Beuren syndrome +
Winship Viljoen Leary Syndrome
Winter Shortland Temple 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 central diabetes insipidus
X-linked cleft palate with or without ankyloglossia
X-Linked Cone Dystrophy with Tapetal-like Sheen
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 2 with or without Impaired Intellectual Development and Dysmorphic Features
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 Intellectual Developmental Disorders +
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 Spermatogenic Failure 4
X-Linked Spermatogenic Failure 5
X-Linked Spermatogenic Failure 6
X-Linked Spermatogenic Failure 7
X-Linked Thrombocytopenia, Intermittent
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
X-linked thrombophilia due to factor IX defect
X-Linked Thrombophilia due to Factor VIII Defect
X-Linked Vesicoureteral Reflux
Y-linked spermatogenic failure 1
Yoon-Bellen neurodevelopmental syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zimmerman Laband Syndrome +
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