|
3-methylglutaconic aciduria type 7a
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
acromelic frontonasal dysostosis
acromesomelic dysplasia +
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
age related macular degeneration +
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
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
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
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
asphyxiating thoracic dystrophy +
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
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 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 syndrome +
Axenfeld-Rieger syndrome type 1
Bainbridge-Ropers syndrome
Baraitser-Winter syndrome +
Baraitser-Winter syndrome 1
Baraitser-Winter syndrome 2
Beare-Stevenson cutis gyrata syndrome
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen 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
bilateral optic nerve hypoplasia
blepharocheilodontic syndrome +
blepharophimosis-impaired intellectual development syndrome
Bork Stender Schmidt Syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnian type palmoplantar keratoderma
brachycephaly, trichomegaly, and developmental delay
Brachydactyly Type A5 Nail Dysplasia
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachydactyly, Long-Thumb Type
Brachydactyly-Nystagmus-Cerebellar Ataxia
brachydactyly-preaxial hallux varus syndrome
brachydactyly-syndactyly syndrome
Brachytelephalangy Characteristic Facies Kallmann
Braddock Carey Syndrome +
brain small vessel disease 1
brain small vessel disease 2
branchiooculofacial syndrome
branchiootorenal syndrome +
bullous congenital ichthyosiform erythroderma
Buschke-Ollendorff syndrome
calvarial doughnut lesions with bone fragility
Camurati-Engelmann disease +
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome +
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Cardiofacioneurodevelopmental Syndrome
Carney-Stratakis syndrome
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
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
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
central conducting lymphatic anomaly
central precocious puberty 1
central precocious puberty 2
cerebellofaciodental syndrome
cerebrocostomandibular syndrome
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
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
childhood-onset GLUT1 deficiency syndrome 2
childhood-onset neurodegeneration with brain atrophy
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
chondrodysplasia-pseudohermaphroditism syndrome
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36.33 duplication syndrome
chromosome 5p13 duplication syndrome
chromosome 5q12 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
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
cold-induced sweating syndrome +
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
Coloboma of Macula and Skeletal Anomalies
Coloboma of Macula with Type B Brachydactyly
Combined Pituitary Hormone Deficiency 1
common variable immunodeficiency 10
common variable immunodeficiency 13
common variable immunodeficiency 14
common variable immunodeficiency 2
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 central hypoventilation syndrome +
congenital contractural arachnodactyly
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
congenital dyserythropoietic anemia type IV
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 limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Micromelic Dysplasia with Dislocation of Radius +
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 nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital nongoitrous hypothyroidism 8
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 1A
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cortical Blindness, Retardation, and Postaxial Polydactyly
cortisone reductase deficiency 2
craniofacial-deafness-hand syndrome
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Cree Mental Retardation Syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
CST3-related cerebral amyloid angiopathy +
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
Cyprus Facial Neuromusculoskeletal Syndrome
Czech Dysplasia, Metatarsal Type
D-2-hydroxyglutaric aciduria 2
Deafness-Craniofacial Syndrome
dehydrated hereditary stomatocytosis 1
dehydrated hereditary stomatocytosis 2
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
dentinogenesis imperfecta +
Der Kaloustian Mcintosh Silver Syndrome
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 DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
developmental delay, dysmorphic facies, and brain anomalies
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
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
diaphyseal medullary stenosis with malignant fibrous histiocytoma
diffuse cystic renal dysplasia
Digital Arthropathy-Brachydactyly, Familial
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
diphthamide deficiency syndrome 2
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal 10q deletion syndrome
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 7
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
distal myopathy Tateyama type
distal myopathy with rimmed vacuoles
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
Doyne honeycomb retinal dystrophy
Duane-radial ray syndrome
Dyschondrosteosis and Nephritis
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
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 Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectrodactyly Cardiopathy Dysmorphism
Edinburgh Malformation 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
Ehlers-Danlos syndrome spondylodysplastic type 3
Ellis-Van Creveld 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
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
Episodic Kinesigenic Dyskinesia 3
epithelial basement membrane dystrophy
epithelial recurrent erosion dystrophy
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
erythrokeratodermia variabilis et progressiva 6
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Faciocardiomelic Syndrome
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 male-limited precocious puberty
familial medullary thyroid carcinoma
familial multiple lipomatosis
Familial Osteodysplasia, Anderson Type
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 visceral amyloidosis
Fanconi anemia complementation group R
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4
Faye-Petersen Ward Carey Syndrome
Feingold Trainer Syndrome
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
fibrodysplasia ossificans progressiva
Fibrous Dysplasia of Bone +
Fibular Aplasia Ectrodactyly
fibular hypoplasia and complex brachydactyly
Fitzsimmons-Guilbert 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
Fraser Jequier Chen Syndrome
frontometaphyseal dysplasia 2
Frontootopalatodigital Osteodysplasia
Ghosal hematodiaphyseal syndrome
giant axonal neuropathy 2
Gingival Fibromatosis with Distinctive Facies
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
gnathodiaphyseal dysplasia
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 RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
hand-foot-genital syndrome
Haspeslagh Fryns Muelenaere Syndrome
Heart-Hand Syndrome, Spanish Type
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 23
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
hyper IgE recurrent infection syndrome 1
hyperalphalipoproteinemia 1
hyperferritinemia-cataract syndrome
Hyperostosis Frontalis Interna
hypertension and brachydactyly syndrome
hypertrichotic osteochondrodysplasia Cantu type
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
hypoinsulinemic hypoglycemia with hemihypertrophy
hypomyelinating leukodystrophy 16
hypomyelinating leukodystrophy 19
hypomyelinating leukodystrophy 22
hypomyelinating leukodystrophy 24
hypomyelinating leukodystrophy 25
hypomyelinating leukodystrophy 26
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, Seizures, and Precocious Puberty
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
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 Hypotonia with Psychomotor Retardation and Characteristic Facies +
infantile-onset distal myopathy
inflammatory bowel disease 21
inflammatory bowel disease 29
inflammatory bowel disease 3
inflammatory bowel disease 30
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Intellectual Developmental Disorder with Autism and Dysmorphic Facies
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 HYPERTELORISM AND DISTINCTIVE FACIES
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
intellectual developmental disorder with ocular anomalies and distinctive facial features
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
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, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
intellectual disability-severe speech delay-mild dysmorphism syndrome
interstitial lung disease 1
interstitial lung disease 2
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
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
Jansen's metaphyseal chondrodysplasia
Jequier Kozlowski Skeletal Dysplasia
juvenile amyotrophic lateral sclerosis type 27
juvenile polyposis syndrome +
Kaufman oculocerebrofacial syndrome
keratosis palmoplantaris striata 1
keratosis palmoplantaris striata 2
keratosis palmoplantaris striata 3
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Tsuruta Taki Syndrome
Kozlowski-Krajewska Syndrome
lacrimoauriculodentodigital syndrome 1
lacrimoauriculodentodigital syndrome 2
lacrimoauriculodentodigital syndrome 3
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
lateral meningocele syndrome
lattice corneal dystrophy +
Leber congenital amaurosis 11
Leber congenital amaurosis 13
Leber congenital amaurosis with early-onset deafness
Lenz-Majewski hyperostotic dwarfism
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
leucine-sensitive hypoglycemia of infancy
lissencephaly 9 with complex brainstem malformation
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
lymphedema-distichiasis syndrome +
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
macrocephaly-autism syndrome
Malocclusion and Short Stature
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Mental Retardation Syndrome, Autosomal
maturity-onset diabetes of the young +
McPherson Clemens Syndrome
Meesmann corneal dystrophy 1
Meesmann corneal dystrophy 2
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megalencephalic leukoencephalopathy with subcortical cysts 2B
melanoma and neural system tumor syndrome
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Dysplasia, Camera Type
Mesomelic Dysplasia, Savarirayan Type
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. (DO)
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephaly Deafness Syndrome
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
microcephaly, short stature, and limb abnormalities
microcephaly-micromelia syndrome
Micromelic Dwarfism Fryns Type
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
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
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 +
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 Pterygium Syndrome, X-Linked
multiple synostoses syndrome +
multiple synostoses syndrome 1
multiple types of congenital heart defects 6
myoclonic-atonic epilepsy
Myoectodermal Gonadal Dysgenesis Syndrome
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
Naegeli-Franceschetti-Jadassohn syndrome
nephrogenic diabetes insipidus type 2
nephrotic syndrome type 4
neurodegeneration with brain iron accumulation 3
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
neurodevelopmental disorder with involuntary movements
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
neurodevelopmental disorder with speech impairment and dysmorphic facies
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
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 1
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
Night Blindness Skeletal Anomalies Unusual Facies
nonautoimmune hyperthyroidism
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
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 2
oculopharyngodistal myopathy 3
oculopharyngodistal myopathy 4
Oculoskeletodental Syndrome
Ohdo syndrome, SBBYS variant
Oroacral Syndrome, Verloes-Koulischer Type
orofaciodigital syndrome X
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta +
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2 +
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
Osteolysis Syndrome, Recessive
Otoonychoperoneal Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal dominant
otospondylomegaepiphyseal dysplasia, autosomal recessive
overhydrated hereditary stomatocytosis
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
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
Partington Anderson Syndrome
Pelvis-Shoulder Dysplasia
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
permanent neonatal diabetes mellitus +
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
Peroxisome biogenesis disorder 4B
Pfeiffer Palm Teller Syndrome
Pierre Robin Sequence with Facial and Digital Anomalies
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 Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
polycystic liver disease +
popliteal pterygium syndrome +
posterior amorphous corneal dystrophy
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
posterior polymorphous corneal dystrophy 4
Prata Libéral Gonçalves Syndrome
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
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
progressive pseudorheumatoid arthropathy of childhood
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
proprotein convertase 1/3 deficiency
proteosome-associated autoinflammatory syndrome 2
prothrombin thrombophilia
pulmonary venoocclusive disease 1
punctate palmoplantar keratoderma type II
punctate palmoplantar keratoderma type III
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Renal and Mullerian Duct Hypoplasia +
Renal Dysplasia - Limb Defects Syndrome
retinal arterial tortuosity
retinal macular dystrophy +
retinal vasculopathy with cerebral leukodystrophy
retinitis pigmentosa-deafness syndrome
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Roifman-Chitayat Syndrome
Rubinstein-Taybi syndrome +
scalp-ear-nipple syndrome
scapuloperoneal spinal muscular atrophy
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
schneckenbecken dysplasia
Schnyder corneal dystrophy
Schopf-Schulz-Passarge syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Schwartz-Jampel syndrome 1
selective pituitary thyroid hormone resistance
sepiapterin reductase deficiency
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Short Stature Syndrome, Brussels Type
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Shprintzen Omphalocele Syndrome
Silver-Russell Syndrome 3
Silverman-Handmaker type dyssegmental dysplasia
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sketetal Dysplasia Coarse Facies Mental Retardation
Slipped Capital Femoral Epiphyses
Snijders Blok-Campeau Syndrome
snowflake vitreoretinal degeneration
solitary median maxillary central incisor
Sorsby's fundus dystrophy
speech-language disorder-1
Spinal Dysplasia, Anhalt Type
spinal muscular atrophy with predominant lower extremity +
spinal muscular atrophy, Jokela type
Spinocerebellar Ataxia with Dysmorphism
split hand-foot malformation 1
split hand-foot malformation 4
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepimetaphyseal dysplasia with joint laxity type 2
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia +
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia Kimberley type
spondyloepiphyseal dysplasia Maroteaux type
spondyloepiphyseal dysplasia Nishimura type
spondyloepiphyseal dysplasia Stanescu type
spondyloepiphyseal dysplasia tarda with characteristic facies
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaphyseal dysplasia +
spondylometaphyseal dysplasia corner fracture type
spondylometaphyseal dysplasia Kozlowski type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
STING-associated vasculopathy with onset in infancy
Stolerman neurodevelopmental syndrome
Stuve-Wiedemann Syndrome +
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 3
syndromic microphthalmia 5
syndromic microphthalmia 6
syndromic X-linked intellectual disability Turner type
tarsal-carpal coalition syndrome +
Tatton-Brown-Rahman syndrome
Teebi hypertelorism syndrome 1
Teebi Naguib Al Awadi syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
thanatophoric dysplasia +
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
tibial muscular dystrophy
torsion dystonia with onset in infancy
Tracheobronchopathia Osteoplastica
transthyretin amyloidosis
Treacher Collins syndrome +
trichodontoosseous syndrome
trichohepatoenteric syndrome +
Trichorhinophalangeal Syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
tubular aggregate myopathy 1
tubular aggregate myopathy 2
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
Ulna Metaphyseal Dysplasia Syndrome
Ulnar/Fibular Ray Defect and Brachydactyly
Uruguay faciocardiomusculoskeletal syndrome
uveal coloboma-cleft lip and palate-intellectual disability
variant ABeta2M amyloidosis
vascular type Ehlers-Danlos syndrome +
Verloes Van Maldergem Marneffe Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral hypersegmentation and orofacial anomalies
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weissenbacher-Zweymuller syndrome +
Weyers acrofacial dysostosis
White Forelock with Malformations
Wiedemann-Steiner syndrome
Williams-Beuren syndrome +
Winter Harding Hyde Syndrome
Wolcott-Rallison syndrome
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