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16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 4
3-methylglutaconic aciduria type 7a
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
acrocardiofacial syndrome
Acrocephalopolydactylous Dysplasia
acrofacial dysostosis Cincinnati type
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
acrokeratosis verruciformis
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
acromelic frontonasal dysostosis
Adducted Thumbs Syndrome +
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
age related macular degeneration +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 4
amyotrophic lateral sclerosis type 1
amyotrophic lateral sclerosis type 24
amyotrophic lateral sclerosis type 25
amyotrophic lateral sclerosis type 26
amyotrophic lateral sclerosis type 28
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ankyrin-B-related cardiac arrhythmia
Annular Epidermolytic Ichthyosis +
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
anterior segment dysgenesis 1
antithrombin III deficiency
Antley-Bixler syndrome without disordered steroidogenesis
aplasia of lacrimal and salivary glands
apolipoprotein C-III deficiency +
APP-related cerebral amyloid angiopathy
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 14
arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis Multiplex Congenita Whistling Face
asphyxiating thoracic dystrophy +
Asymmetric Short Stature Syndrome
atrial heart septal defect 2 +
atrial heart septal defect 5
atrial heart septal defect 6
atrial heart septal defect 7
atrial heart septal defect 8
atrial heart septal defect 9
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autoimmune interstitial lung, joint, and kidney disease
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 4
autosomal dominant Aarskog syndrome
autosomal dominant Alport syndrome
autosomal dominant beta thalassemia
autosomal dominant centronuclear myopathy +
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata +
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant craniodiaphyseal dysplasia
autosomal dominant craniometaphyseal dysplasia
autosomal dominant cutis laxa +
autosomal dominant distal hereditary motor neuronopathy +
Autosomal Dominant Dyskeratosis Congenita +
autosomal dominant dystrophic epidermolysis bullosa +
autosomal dominant Emery-Dreifuss muscular dystrophy 4
autosomal dominant Emery-Dreifuss muscular dystrophy 5
autosomal dominant Emery-Dreifuss muscular dystrophy 7
autosomal dominant familial periodic fever
autosomal dominant familial visceral neuropathy
autosomal dominant hyaline body myopathy
autosomal dominant hypocalcemia +
autosomal dominant hypophosphatemic rickets
autosomal dominant intellectual developmental disorder +
autosomal dominant intellectual developmental disorder 22
autosomal dominant isolated ectopia lentis 1
autosomal dominant keratitis +
autosomal dominant limb-girdle muscular dystrophy +
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant microcephaly +
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
autosomal dominant nocturnal frontal lobe epilepsy +
autosomal dominant nonsyndromic deafness +
autosomal dominant osteopetrosis 1
autosomal dominant osteopetrosis 2
autosomal dominant polycystic kidney disease +
autosomal dominant progressive external ophthalmoplegia 1
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
autosomal dominant pseudohypoaldosteronism type 1
autosomal dominant Robinow syndrome 1
autosomal dominant Robinow syndrome 2
autosomal dominant Robinow syndrome 3
autosomal dominant sensory ataxia 1
autosomal dominant severe congenital neutropenia +
autosomal dominant sideroblastic anemia 4
autosomal dominant spondyloepiphyseal dysplasia tarda
autosomal dominant thrombophilia due to protein S deficiency
autosomal dominant vitreoretinochoroidopathy
autosomal dominant Wolfram syndrome
autosomal dominant woolly hair
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axenfeld-Rieger syndrome +
Axenfeld-Rieger syndrome type 1
Axial Mesodermal Dysplasia Spectrum
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bainbridge-Ropers syndrome
Bamforth-Lazarus syndrome
Baraitser-Winter syndrome +
Baraitser-Winter syndrome 1
Baraitser-Winter syndrome 2
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome +
Ben Ari Shuper Mimouni Syndrome
benign familial hematuria +
benign familial infantile seizures 1
benign familial infantile seizures 2
benign familial infantile seizures 3
benign familial infantile seizures 5
benign familial infantile seizures 6
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Ureidopropionase Deficiency
Bifid Femur with Monodactylous Ectrodactyly
Bilateral Amastia with Ureteral Triplication and Dysmorphism
bilateral optic nerve hypoplasia
bilateral perisylvian polymicrogyria +
Biologically Inactive Thyrotropin
Birk-Landau-Perez Syndrome
Blepharochalasis and Double Lip
blepharocheilodontic syndrome +
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
blepharophimosis-impaired intellectual development syndrome
Bloch-Sulzberger syndrome +
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnian type palmoplantar keratoderma
brachycephaly, trichomegaly, and developmental delay
Brachydactyly, Intraventricular Septal Defect, and Deafness
brachydactyly-syndactyly syndrome
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
brain small vessel disease 1
brain small vessel disease 2
Brain-Lung-Thyroid Syndrome
Branchial Cleft Anomalies
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
bullous congenital ichthyosiform erythroderma
Burnett Schwartz Berberian Syndrome
Buschke-Ollendorff syndrome
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Camptodactyly Syndrome Guadalajara Type +
Camptodactyly Syndrome Guadalajara Type 2
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
Cardiac, Facial, and Digital Anomalies with Developmental Delay
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Carnevale Hernandez Castillo Syndrome
Carney-Stratakis syndrome
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types +
cataract 12 multiple types
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 3 multiple types
cataract 31 multiple types
cataract 32 multiple types
cataract 39 multiple types
cataract 4 multiple types +
cataract 5 multiple types
cataract 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
caudal regression syndrome
central conducting lymphatic anomaly
central precocious puberty 1
central precocious puberty 2
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrocostomandibular syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2CC
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease dominant intermediate A
Charcot-Marie-Tooth disease dominant intermediate B +
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease dominant intermediate G
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 1G
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2A
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2DD
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 5
Charcot-Marie-Tooth disease, axonal type 2W
Chemke Oliver Mallek Syndrome
childhood onset GLUT1 deficiency syndrome 2
childhood-onset neurodegeneration with brain atrophy
Chitayat Meunier Hodgkinson Syndrome
CHOPRA-AMIEL-GORDON SYNDROME
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 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 1p36.33 duplication syndrome
chromosome 1q21.1 deletion syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 5p13 duplication syndrome
chromosome 5q12 deletion syndrome
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
cold-induced sweating syndrome +
combined oxidative phosphorylation deficiency 2
Combined Pituitary Hormone Deficiency 1
Combined Pituitary Hormone Deficiency 4
common variable immunodeficiency 10
common variable immunodeficiency 13
common variable immunodeficiency 14
common variable immunodeficiency 2
Complex Camptosynpolydactyly
complex cortical dysplasia with other brain malformations +
congenital adrenal insufficiency
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital central hypoventilation syndrome +
congenital contractural arachnodactyly
congenital dyserythropoietic anemia type IV
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
congenital fibrosis of the extraocular muscles 1
congenital fibrosis of the extraocular muscles 3A
congenital fibrosis of the extraocular muscles 3C
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital muscular dystrophy due to LMNA mutation
congenital myasthenic syndrome 18
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 7
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
Congenital Nongoitrous Hypothyroidism +
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital nongoitrous hypothyroidism 8
congenital secretory sodium diarrhea 3
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
congenital symmetric circumferential skin creases 1
congenital symmetric circumferential skin creases 2
congenital vertical talus
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Cornelia de Lange syndrome +
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
cortisone reductase deficiency 2
Costocoracoid Ligament Congenitally Short
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 Syndrome, Autosomal Recessive
Craniosynostosis, Adelaide Type
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
CST3-related cerebral amyloid angiopathy +
Curly Hair-Acral Keratoderma-Caries Syndrome
D-2-hydroxyglutaric aciduria 2
Daneman Davy Mancer Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
deafness-intellectual disability, Martin-Probst type syndrome
dehydrated hereditary stomatocytosis 1
dehydrated hereditary stomatocytosis 2
Delayed Cranial Ossification due to CBFB Haploinsufficiency
dentinogenesis imperfecta +
dermatopathia pigmentosa reticularis
developmental and epileptic encephalopathy 100
developmental and epileptic encephalopathy 103
developmental and epileptic encephalopathy 104
developmental and epileptic encephalopathy 108
developmental and epileptic encephalopathy 109
developmental and epileptic encephalopathy 11
developmental and epileptic encephalopathy 13
developmental and epileptic encephalopathy 14
developmental and epileptic encephalopathy 17
developmental and epileptic encephalopathy 19
developmental and epileptic encephalopathy 24
developmental and epileptic encephalopathy 26
developmental and epileptic encephalopathy 27
developmental and epileptic encephalopathy 30
developmental and epileptic encephalopathy 31A
developmental and epileptic encephalopathy 32
developmental and epileptic encephalopathy 33
developmental and epileptic encephalopathy 4
developmental and epileptic encephalopathy 41
developmental and epileptic encephalopathy 42
developmental and epileptic encephalopathy 43
developmental and epileptic encephalopathy 45
developmental and epileptic encephalopathy 46
developmental and epileptic encephalopathy 47
developmental and epileptic encephalopathy 5
developmental and epileptic encephalopathy 54
developmental and epileptic encephalopathy 56
developmental and epileptic encephalopathy 57
developmental and epileptic encephalopathy 58
developmental and epileptic encephalopathy 59
developmental and epileptic encephalopathy 62
developmental and epileptic encephalopathy 64
developmental and epileptic encephalopathy 65
developmental and epileptic encephalopathy 66
developmental and epileptic encephalopathy 67
developmental and epileptic encephalopathy 69
developmental and epileptic encephalopathy 6B
developmental and epileptic encephalopathy 7
developmental and epileptic encephalopathy 70
developmental and epileptic encephalopathy 72
developmental and epileptic encephalopathy 73
developmental and epileptic encephalopathy 74
developmental and epileptic encephalopathy 78
developmental and epileptic encephalopathy 79
developmental and epileptic encephalopathy 87
developmental and epileptic encephalopathy 91
developmental and epileptic encephalopathy 92
developmental and epileptic encephalopathy 93
developmental and epileptic encephalopathy 96
developmental and epileptic encephalopathy 97
developmental and epileptic encephalopathy 98
developmental and epileptic encephalopathy 99
developmental dysplasia of the hip 1
developmental dysplasia of the hip 2
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 16
Diamond-Blackfan anemia 17
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 2
Diamond-Blackfan anemia 20
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
Diaphanospondylodysostosis
diaphyseal medullary stenosis with malignant fibrous histiocytoma
diffuse cystic renal dysplasia
dilated cardiomyopathy 1A
dilated cardiomyopathy 1AA
dilated cardiomyopathy 1B
dilated cardiomyopathy 1C
dilated cardiomyopathy 1CC
dilated cardiomyopathy 1D
dilated cardiomyopathy 1DD
dilated cardiomyopathy 1E
dilated cardiomyopathy 1HH
dilated cardiomyopathy 1II
dilated cardiomyopathy 1JJ
dilated cardiomyopathy 1KK
dilated cardiomyopathy 1LL
dilated cardiomyopathy 1MM
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1Y
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dincsoy Salih Patel Syndrome
diphthamide deficiency syndrome 1
distal arthrogryposis type 1 +
distal arthrogryposis type 10
distal arthrogryposis type 1A
distal arthrogryposis type 1B
distal arthrogryposis type 2A
distal arthrogryposis type 2B1
distal arthrogryposis type 2B2
distal arthrogryposis type 2B3
distal arthrogryposis type 3
distal arthrogryposis type 5
distal arthrogryposis type 6
distal arthrogryposis type 7
distal myopathy Tateyama type
distal myopathy with rimmed vacuoles
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
Doyne honeycomb retinal dystrophy
Duane-radial ray syndrome
Dwarfism Stiff Joint Ocular Abnormalities
dysplastic nevus syndrome
dystonia 28 childhood-onset
dystonia, DOPA-responsive
dystransthyretinemic hyperthyroxinemia
early-onset dystonia and/or spastic paraplegia
ectodermal dysplasia and immunodeficiency 2
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ectrodactyly Cardiopathy Dysmorphism
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly-Cleft Palate Syndrome
Ehlers-Danlos syndrome arthrochalasia type 1
Ehlers-Danlos syndrome arthrochalasia type 2
Ehlers-Danlos syndrome classic type 1
Ehlers-Danlos syndrome classic type 2
Ehlers-Danlos syndrome periodontal type 1
Ehlers-Danlos syndrome periodontal type 2
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
epidermolysis bullosa simplex generalized type +
epidermolysis bullosa simplex localized type +
epidermolysis bullosa simplex Ogna type
epidermolysis bullosa simplex with mottled pigmentation
epidermolytic hyperkeratosis 1
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
episodic kinesigenic dyskinesia 3
epithelial basement membrane dystrophy
epithelial recurrent erosion dystrophy
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
erythrokeratodermia variabilis et progressiva 6
Extensor Tendons of Fingers, Anomalous Insertion of
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
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
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
familial adenomatous polyposis 1
familial adult myoclonic epilepsy 1
familial adult myoclonic epilepsy 2
familial adult myoclonic epilepsy 3
familial adult myoclonic epilepsy 4
familial adult myoclonic epilepsy 6
familial adult myoclonic epilepsy 7
familial apolipoprotein A5 deficiency
familial Behcet-like autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 3
familial cold autoinflammatory syndrome 4
familial encephalopathy with neuroserpin inclusion bodies
familial episodic pain syndrome 1
familial episodic pain syndrome 2
familial episodic pain syndrome 3
familial erythrocytosis 1
familial erythrocytosis 3
familial erythrocytosis 5
familial expansile osteolysis
familial focal epilepsy with variable foci +
familial gestational hyperthyroidism
familial hyperinsulinemic hypoglycemia 1
familial hyperinsulinemic hypoglycemia 2
familial hyperinsulinemic hypoglycemia 3
familial hyperinsulinemic hypoglycemia 5
familial hyperinsulinemic hypoglycemia 6
familial hyperinsulinemic hypoglycemia 7
familial hypocalciuric hypercalcemia +
familial juvenile hyperuricemic nephropathy +
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
familial male-limited precocious puberty
familial multiple lipomatosis
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial progressive hyperpigmentation with or without hypopigmentation
familial temporal lobe epilepsy 1
familial temporal lobe epilepsy 2
familial temporal lobe epilepsy 3
familial temporal lobe epilepsy 4
familial temporal lobe epilepsy 5
familial temporal lobe epilepsy 6
familial temporal lobe epilepsy 7
familial temporal lobe epilepsy 8
familial thyroid dyshormonogenesis +
familial visceral amyloidosis
Fanconi anemia complementation group R
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4
Feingold Trainer Syndrome
Femur Fibula Ulna Syndrome
fetal encasement syndrome
fibrodysplasia ossificans progressiva
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
focal nonepidermolytic palmoplantar keratoderma 1
focal nonepidermolytic palmoplantar keratoderma 2
focal or diffuse nonepidermolytic palmoplantar keratoderma
focal segmental glomerulosclerosis 1
focal segmental glomerulosclerosis 2
focal segmental glomerulosclerosis 5
focal segmental glomerulosclerosis 7
focal segmental glomerulosclerosis 8
Forney Robinson Pascoe Syndrome
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Fronto-Facio-Nasal Dysplasia
frontometaphyseal dysplasia 2
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Gardner Morrisson Abbot Syndrome
giant axonal neuropathy 2
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Glutamyl Ribose-5-Phosphate Storage Disease
gnathodiaphyseal dysplasia
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
granular corneal dystrophy +
Greig cephalopolysyndactyly syndrome
GRN-related frontotemporal lobar degeneration with TDP43 inclusions
growth hormone insensitivity syndrome with immune dysregulation 2
Growth Mental Deficiency Syndrome of Myhre
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Hall Riggs Mental Retardation Syndrome
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Heart Defects Limb Shortening
Heart-Hand Syndrome, Slovenian Type
Hengel-Maroofian-Schols syndrome
heparin cofactor II deficiency
hereditary breast ovarian cancer syndrome
hereditary diffuse gastric cancer
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
hereditary hemorrhagic telangiectasia +
hereditary mixed polyposis syndrome 2
hereditary multiple exostoses +
hereditary neuropathy with liability to pressure palsies
hereditary sensory and autonomic neuropathy type 1A
hereditary sensory and autonomic neuropathy type 1C
hereditary sensory and autonomic neuropathy type 7
hereditary sensory neuropathy type 1B
hereditary sensory neuropathy type 1D
hereditary sensory neuropathy type 1E
hereditary sensory neuropathy type 1F
hereditary spastic paraplegia 10
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 17
hereditary spastic paraplegia 19
hereditary spastic paraplegia 29
hereditary spastic paraplegia 31
hereditary spastic paraplegia 33
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
hereditary spastic paraplegia 6
hereditary spastic paraplegia 72A
hereditary spastic paraplegia 73
hereditary spastic paraplegia 79A
hereditary spastic paraplegia 8
hereditary spastic paraplegia 80
hereditary spastic paraplegia 88
hereditary spastic paraplegia 90A
hereditary spastic paraplegia 90B
hereditary spastic paraplegia 9A
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 4
Hersh Podruch Weisskopf Syndrome
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Humeroradial Synostosis with Craniofacial Anomalies
Hunter-Macdonald Syndrome
hyper IgE recurrent infection syndrome 1
hyperalphalipoproteinemia 1
hyperferritinemia-cataract syndrome
hyperphosphatasia with impaired intellectual development syndrome +
hypertension and brachydactyly syndrome
hypogonadotropic hypogonadism 14 with or without anosmia
hypogonadotropic hypogonadism 15 with or without anosmia
hypogonadotropic hypogonadism 16 with or without anosmia
hypogonadotropic hypogonadism 17 with or without anosmia
hypogonadotropic hypogonadism 18 with or without anosmia
hypogonadotropic hypogonadism 19 with or without anosmia
hypogonadotropic hypogonadism 2 with or without anosmia +
hypogonadotropic hypogonadism 20 with or without anosmia
hypogonadotropic hypogonadism 21 with or without anosmia
hypogonadotropic hypogonadism 3 with or without anosmia
hypogonadotropic hypogonadism 4 with or without anosmia
hypogonadotropic hypogonadism 5 with or without anosmia +
hypogonadotropic hypogonadism 6 with or without anosmia
hypogonadotropic hypogonadism 9 with or without anosmia
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
hypoinsulinemic hypoglycemia with hemihypertrophy
Hypomelia Mullerian Duct Anomalies
hypomyelinating leukodystrophy 16
hypomyelinating leukodystrophy 19
hypomyelinating leukodystrophy 22
hypomyelinating leukodystrophy 24
hypomyelinating leukodystrophy 25
hypomyelinating leukodystrophy 6
hypoparathyroidism-retardation-dysmorphism syndrome
hypophosphatemic nephrolithiasis/osteoporosis 1
hypophosphatemic nephrolithiasis/osteoporosis 2
hypoplastic or aplastic tibia with polydactyly
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Ichthyosis Cheek Eyebrow Syndrome
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
immunodeficiency-centromeric instability-facial anomalies syndrome +
inclusion body myopathy and brain white matter abnormalities
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
infantile-onset distal myopathy
inflammatory bowel disease 21
inflammatory bowel disease 29
inflammatory bowel disease 3
inflammatory bowel disease 30
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
intellectual disability-severe speech delay-mild dysmorphism syndrome
intracranial berry aneurysm 1
intracranial berry aneurysm 3
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
iridogoniodysgenesis syndrome +
Iris Dysplasia Hypertelorism Deafness
ischiocoxopodopatellar syndrome
isolated elevated serum creatine phosphokinase levels
isolated microphthalmia 7
isolated mitochondrial myopathy
Isolated Noncompaction of the Ventricular Myocardium +
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
Jansen's metaphyseal chondrodysplasia
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jones Hersh Yusk Syndrome
Jung Wolff Back Stahl Syndrome
juvenile amyotrophic lateral sclerosis type 27
juvenile polyposis syndrome +
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Keratoconus Posticus Circumscriptus with Associated Malformations
keratosis palmoplantaris striata 1
keratosis palmoplantaris striata 2
keratosis palmoplantaris striata 3
Kocher-Debre-Semelaigne Syndrome
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick Syndrome
Krauss Herman Holmes Syndrome
lacrimoauriculodentodigital syndrome 1
lacrimoauriculodentodigital syndrome 2
lacrimoauriculodentodigital syndrome 3
Larsen-like syndrome B3GAT3 type
lateral meningocele syndrome
lattice corneal dystrophy +
Le Marec Bracq Picaud Syndrome
Leber congenital amaurosis 11
Leber congenital amaurosis 13
Leber congenital amaurosis with early-onset deafness
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT
leucine-sensitive hypoglycemia of infancy
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
linear nevus sebaceous syndrome +
linear skin defects with multiple congenital anomalies 2
lissencephaly 9 with complex brainstem malformation
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
lymphedema-distichiasis syndrome +
macrocephaly-autism syndrome
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Mammary-Digital-Nail Syndrome
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
mandibulofacial dysostosis, Guion-Almeida type
Marles Greenberg Persaud Syndrome
maturity-onset diabetes of the young +
Maxillofacial Abnormalities +
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
Meesmann corneal dystrophy 1
Meesmann corneal dystrophy 2
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megalencephalic leukoencephalopathy with subcortical cysts 2B
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
melanoma and neural system tumor syndrome
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Mesomelia-Synostoses Syndrome
Mesomelic Limb Shortening and Bowing
Metaphyseal Acroscyphodysplasia
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microdontia Hypodontia Short Stature
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Microspherophakia with Hernia
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Miller-Dieker lissencephaly syndrome
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
mitochondrial DNA depletion syndrome 12a
Miura type epiphyseal chondrodysplasia
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
Mousa Al din Al Nassar Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
mucolipidosis II alpha/beta
Mucopolysaccharidosis-Plus Syndrome
Mullegama-Klein-Martinez syndrome
Muller Barth Menger Syndrome
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 3
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2A +
multiple endocrine neoplasia type 2B +
multiple endocrine neoplasia type 4
multiple epiphyseal dysplasia 1
multiple epiphyseal dysplasia 2
multiple epiphyseal dysplasia 3
multiple epiphyseal dysplasia 5
multiple epiphyseal dysplasia 6
multiple epiphyseal dysplasia with myopia and deafness
multiple synostoses syndrome +
multiple types of congenital heart defects 6
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
myoclonic-atonic epilepsy
Myoectodermal Gonadal Dysgenesis Syndrome
Nablus Mask-Like Facial Syndrome
Naegeli-Franceschetti-Jadassohn syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
neonatal diabetes mellitus with congenital hypothyroidism
nephrogenic diabetes insipidus type 2
nephrotic syndrome type 4
NEUROCARDIOFACIODIGITAL SYNDROME
neurodegeneration with brain iron accumulation 3
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
neurodevelopmental disorder with involuntary movements
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
neurofibromatosis-Noonan syndrome
neurogenic scapuloperoneal syndrome Kaeser type
neurohypophyseal diabetes insipidus +
neuronal ceroid lipofuscinosis 4
neuronal intranuclear inclusion disease
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome +
nevoid basal cell carcinoma syndrome 1
Nicolaides-Baraitser syndrome
nonautoimmune hyperthyroidism
Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
nonsyndromic congenital nail disorder 1
nonsyndromic congenital nail disorder 2
nonsyndromic congenital nail disorder 3
nonsyndromic congenital nail disorder 5
nonsyndromic congenital nail disorder 6
nonsyndromic congenital nail disorder 7
nonsyndromic congenital nail disorder 8
Noonan syndrome with multiple lentigines +
oblique facial clefting 1
ocular albinism with sensorineural deafness
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Oculopalatocerebral Syndrome
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 2
oculopharyngodistal myopathy 3
oculopharyngodistal myopathy 4
Oculorenocerebellar Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
Ohdo syndrome, SBBYS variant
Orbital Margin, Hypoplasia of
Oroacral Syndrome, Verloes-Koulischer Type
orofaciodigital syndrome +
orofaciodigital syndrome X
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2 +
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal dominant
overhydrated hereditary stomatocytosis
Paget's disease of bone 2
Paget's disease of bone 3
Paget's disease of bone 4
Paget's disease of bone 6
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
paramyotonia congenita of Von Eulenburg
paroxysmal extreme pain disorder
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia 3
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Patterson Pseudoleprechaunism Syndrome
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
permanent neonatal diabetes mellitus +
Peroxisome biogenesis disorder 4B
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
Piepkorn Karp Hickok syndrome
pigmented paravenous chorioretinal atrophy
platelet-type bleeding disorder 12
platelet-type bleeding disorder 14
platelet-type bleeding disorder 15
platelet-type bleeding disorder 16
platelet-type bleeding disorder 17
platelet-type bleeding disorder 20
platelet-type bleeding disorder 3
platelet-type bleeding disorder 9
polycystic kidney disease +
polycystic liver disease +
popliteal pterygium syndrome +
postaxial acrofacial dysostosis
Postaxial Polydactyly, with Dental and Vertebral Anomalies
posterior amorphous corneal dystrophy
Posterior Exchondrosis of Pinna
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
posterior polymorphous corneal dystrophy 4
Powell Chandra Saal Syndrome
Preauricular Fistulae, Congenital
Premature Aging, Okamoto Type
primary ciliary dyskinesia 43
primary failure of tooth eruption
primary ovarian insufficiency 11
primary ovarian insufficiency 16
primary ovarian insufficiency 3
primary ovarian insufficiency 5
primary ovarian insufficiency 6
primary ovarian insufficiency 7
Progeroid Facial Appearance with Hand Anomalies
progressive familial heart block type IA
progressive familial heart block type IB
progressive familial heart block type II
progressive myoclonus epilepsy 7
progressive osseous heteroplasia
proprotein convertase 1/3 deficiency
proteosome-associated autoinflammatory syndrome 2
prothrombin thrombophilia
Pseudoaminopterin Syndrome
Pseudotrisomy 13 Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pulmonary venoocclusive disease 1
punctate palmoplantar keratoderma type II
punctate palmoplantar keratoderma type III
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Hypoplasia Choanal Atresia
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Ramos Arroyo Clark Syndrome
Reardon Hall Slaney syndrome
Renal Hypophosphatemia with Intracerebral Calcifications
retinal arterial tortuosity
retinal macular dystrophy +
retinal vasculopathy with cerebral leukodystrophy
retinitis pigmentosa-deafness syndrome
Rhizomelic Dysplasia Patterson Lowry Type
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Ritscher-Schinzel syndrome +
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi syndrome +
Sackey Sakati Aur Syndrome
Sacral Meningocele Conotruncal Heart Defects
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Field Coldwell Syndrome
scalp-ear-nipple syndrome
scapuloperoneal spinal muscular atrophy
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
Schnyder corneal dystrophy
Schopf-Schulz-Passarge syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
Second Metatarsal-Metacarpal Syndrome
selective pituitary thyroid hormone resistance
sepiapterin reductase deficiency
Sharma Kapoor Ramji Syndrome
Short Stature and Facioauriculothoracic Malformations
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-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
Sifrim-Hitz-Weiss syndrome
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 2
Smith-Lemli-Opitz syndrome +
snowflake vitreoretinal degeneration
solitary median maxillary central incisor
Sorsby's fundus dystrophy
speech-language disorder-1
spinal muscular atrophy with predominant lower extremity +
spinal muscular atrophy, Jokela type
Splenogonadal Fusion with Limb Defects and Micrognathia
Split Hand, Split Foot, Nystagmus
split hand-foot malformation 1
split hand-foot malformation 1 with sensorineural hearing loss
split hand-foot malformation 4
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia Kimberley type
spondyloepiphyseal dysplasia Maroteaux type
spondyloepiphyseal dysplasia Nishimura type
spondyloepiphyseal dysplasia Stanescu type
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaphyseal dysplasia corner fracture type
spondylometaphyseal dysplasia Kozlowski type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Squalene Synthase Deficiency
Stankiewicz-Isidor Syndrome
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
STING-associated vasculopathy with onset in infancy
Stoelinga de Koomen Davis Syndrome
Stoll Alembik Dott Syndrome
SULEIMAN-EL-HATTAB SYNDROME
Symphalangism with Multiple Anomalies of Hands and Feet
Symphalangism, C. S. Lewis Type
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 3
syndromic microphthalmia 5
syndromic microphthalmia 6
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
tarsal-carpal coalition syndrome +
Tatton-Brown-Rahman syndrome
Teebi hypertelorism syndrome +
Teebi hypertelorism syndrome 1
Tel Hashomer Camptodactyly Syndrome
terminal osseous dysplasia
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Thiel-Behnke corneal dystrophy
Thomas Jewett Raines Syndrome
Thoracolaryngopelvic Dysplasia
thrombophilia due to activated protein C resistance
thrombophilia due to HRG deficiency
thrombophilia due to thrombin defect
Thymic Aplasia with Fetal Death
tibial muscular dystrophy
Tollner Horst Manzke Syndrome
torsion dystonia with onset in infancy
transthyretin amyloidosis
Treacher Collins syndrome +
Tricho-Dento-Osseous Syndrome 1
trichodontoosseous syndrome
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Triphalangeal Thumbs with Brachyectrodactyly
tubular aggregate myopathy 1
tubular aggregate myopathy 2
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Van den Ende-Gupta syndrome
variant ABeta2M amyloidosis
vascular type Ehlers-Danlos syndrome +
Velofacioskeletal Syndrome
Ventricular Extrasystoles Perodactyly Robin Sequence
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral Body Fusion Overgrowth
vertebral hypersegmentation and orofacial anomalies
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +
VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
Viljoen Kallis Voges Syndrome
Walbaum Titran Durieux Crepin Syndrome
Weaver syndrome A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. (DO)
Weill-Marchesani syndrome +
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
Williams-Beuren syndrome +
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
Yemenite Deaf-Blind Hypopigmentation Syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zimmerman Laband Syndrome +
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