Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Short stature, Camptodact... |
ORPHA:1466 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia... |
OMIM:206920 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly, Bifid nose |
OMIM:619452 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Small placenta, Abn... |
ORPHA:439167 |
Trisomy 13 |
|
Anophthalmia, High, narrow palate, Abnormality of the fontanelles or cranial sutures, Intrauterin... |
ORPHA:3378 |
Warburg Micro Syndrome 1 |
|
Anteverted nares, External genital hypoplasia, Short stature, Micrognathia, Overlapping toe, Cryp... |
OMIM:600118 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Abnormal hand morphology, Short phalanx of... |
OMIM:300845 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Microphthalmia |
OMIM:615524 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Depressed nasal ridge, Microphthalmia, Shor... |
OMIM:613885 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Downturned corners of mouth, High palate, Abnormal bone ossification, Abnormal femo... |
ORPHA:163649 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Cataract, Rhizomelia, Proximal placement of thumb, Micrognathia, Large ... |
ORPHA:93267 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely... |
ORPHA:363417 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Wide nose, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula... |
ORPHA:280679 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hepatomegaly, Alopecia, Malabsorption, Splenomegaly, Lymphad... |
ORPHA:100025 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cleft ala nasi, Cryptorchidism, Orbital encephalocele, Microphthalmia |
OMIM:164180 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Short stature, Microcornea, Growth delay, Hypogonadism, High palate, Narrow mouth, Micr... |
ORPHA:2528 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Short stature, Macular atrophy, Prominent nose, Micrognathia, Optic ... |
OMIM:616171 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Proximal placement of... |
ORPHA:139471 |
Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Pectoral muscle hypoplasia/a... |
OMIM:136760 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A... |
ORPHA:93323 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Pierpont Syndrome |
|
Microcornea, Widely spaced teeth, Short palm, Prominent fingertip pads, Micropenis, Short stature... |
OMIM:602342 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Microcornea, Persistent pupi... |
OMIM:257850 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Short stature, Abnormal metacarpal morphology, Reduced bone mineral density, Abn... |
ORPHA:2370 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Abnormality of the dentition, High pa... |
ORPHA:217340 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Flexion c... |
ORPHA:90322 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Hypospadias, Anteverted nares, Depres... |
OMIM:614613 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Oculofaciocardiodental Syndrome |
|
Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb... |
ORPHA:2712 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho... |
ORPHA:915 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Short stature, Micrognathia, Cryptorchidism, Joint hyperflexibility, High... |
ORPHA:1695 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Pierpont Syndrome |
|
Joint laxity, Thin upper lip vermilion, Prominent fingertip pads, Wide nasal ridge, Cryptorchidis... |
ORPHA:487825 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Short stature, Camptodactyly of finger, Abnormality of the philtrum, M... |
ORPHA:2863 |
Temtamy Syndrome |
|
Brachydactyly, Convex nasal ridge, Micrognathia, Short toe, Thick lower lip vermilion, Genu varum... |
ORPHA:1777 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature, Malar prominence... |
ORPHA:48431 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cataract, Prominent nasal bridge, Rocker bottom foot, Micrognathia, Ca... |
OMIM:214150 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... |
OMIM:201000 |
Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Anteverted nares, Micrognathia, Postnatal growt... |
OMIM:619135 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Cataract, Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningoc... |
ORPHA:1914 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Venous insufficiency, Tibial bowing, Camptodactyly of 2n... |
ORPHA:1106 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to ... |
OMIM:275400 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Downturned corners of mouth, High palate, Iris coloboma, Encephalocele, Anteverted ... |
OMIM:605627 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... |
OMIM:101800 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe... |
OMIM:618889 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Distal Duplication 18Q |
|
Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Choanal atresia, Micrognathia, Ca... |
ORPHA:1716 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Microcornea, Downturned corners of mouth, High palate, Scapular winging, A... |
ORPHA:1327 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Anophthalmia, Chorioretinal d... |
ORPHA:899 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... |
OMIM:251450 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Bowing of the long bones, Toe syndactyly, Hypospadias, Anteverted nares, Craniosynost... |
ORPHA:171839 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Retinal detachment, Crumpled long bones, Corneal opacity, Short stature... |
ORPHA:2788 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Microdontia, Cli... |
OMIM:618727 |
Hydrolethalus |
|
Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cle... |
ORPHA:2189 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Retinal detachment, Thymus hyperplasia, Cataract, Anteverted nares, Genu r... |
ORPHA:2969 |
Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal dental enamel morphology, Sev... |
ORPHA:3163 |
Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Bilateral c... |
ORPHA:2409 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fused ... |
OMIM:300166 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Small scrotum, Anophthalmia, Camptodactyly of finger, Depressed nas... |
ORPHA:261344 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... |
OMIM:265900 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... |
ORPHA:950 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Mi... |
ORPHA:93329 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Short stature, Ost... |
OMIM:612463 |
2Q24 Microdeletion Syndrome |
|
Cataract, Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... |
ORPHA:1617 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Cataract, Micrognathia, Postnatal growth retardation, Hypoplastic labia minora, Fl... |
OMIM:614222 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Split foot, Triphalange... |
ORPHA:3434 |
Alagille Syndrome |
|
Keratoconus, Hypoplasia of the ulna, Telangiectasia of the skin, Corneal dystrophy, Micrognathia,... |
ORPHA:52 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Hypogonadi... |
OMIM:615982 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Anophthalmia, Camptodactyly of finger, Corneal dy... |
ORPHA:1101 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small scrotum, Cataract, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Prominent nos... |
OMIM:610756 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Mild postnatal growth retardation, Proximal femoral metaphyseal irregularity, Coxa va... |
ORPHA:168549 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Cataract, Foot joint contracture, Anophthalmia, Delayed eruption of primar... |
ORPHA:90321 |
Otodental Syndrome |
|
Lens coloboma, Microcornea, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Anteve... |
ORPHA:2791 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Osteopathia striata, Short metatarsal, ... |
OMIM:305600 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Cataract, Anteverted nares, Down-sloping shoulders, Micrognathia, Cubitus valgus, Knee... |
OMIM:619694 |
Scheie Syndrome |
|
Mandibular prognathia, Aortic regurgitation, Wide nose, Corneal opacity, Depressed nasal bridge, ... |
OMIM:607016 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Microphthalmia, Arthrogrypos... |
OMIM:616570 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Clinodactyly, Hydro... |
OMIM:618577 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Cleft upper lip, Postnatal growth reta... |
OMIM:243310 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hyp... |
ORPHA:3412 |
Meckel Syndrome |
|
Anophthalmia, Sclerocornea, Micrognathia, Depressed nasal ridge, Microcornea, Encephalocele, Abno... |
ORPHA:564 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Bifid uvula, Joint laxity, Anteverted nares, Short stature, Cryptorchidi... |
OMIM:607812 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Retina... |
OMIM:610125 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Microcorne... |
OMIM:601349 |
Anophthalmia Plus Syndrome |
|
Abnormal nasal morphology, Anophthalmia, Choanal atresia, Spina bifida |
ORPHA:1104 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Hypoplasia of the maxilla, Osteoarthritis, Abnormal vitreous humor ... |
ORPHA:90653 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Short stature, Rhizomelia, Anterior rib cupping, Proximal femoral metaph... |
OMIM:602271 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Joint stiffness, Long fingers,... |
ORPHA:1895 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Deep philtrum, Panhypopituitarism, Depressed nasal ridge, Abse... |
ORPHA:2162 |
Hao-Fountain Syndrome |
|
Hallux valgus, Cryptorchidism, Large fontanelles, Clinodactyly of the 5th finger, Premature adren... |
OMIM:616863 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... |
OMIM:614078 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Cataract, Septo-optic dysplasia, Aplasia/Hypoplasia involving the ... |
ORPHA:3301 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Anteverted nares, Short statu... |
ORPHA:2510 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Widely spaced teeth, Ocular ante... |
ORPHA:369891 |
Kapur-Toriello Syndrome |
|
Cataract, Overlapping fingers, Camptodactyly of finger, Single transverse palmar crease, Cleft up... |
OMIM:244300 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Stenosis of the medullary cavity of the long bones, Short stature, Delayed cranial s... |
ORPHA:93325 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
Bardet-Biedl Syndrome 16 |
|
Short stature, External genital hypoplasia, Hypogonadism, Polydactyly, Rod-cone dystrophy, Retina... |
OMIM:615993 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C... |
OMIM:234100 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Depressed nasal ri... |
ORPHA:96264 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Brachydactyly, Short stature, Craniosynostosis, Micrognathia, Un... |
ORPHA:166035 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Shor... |
OMIM:252600 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Moebius Syndrome |
|
Abnormal nasopharynx morphology, Micrognathia, High palate, Lower limb undergrowth, Micropenis, S... |
OMIM:157900 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... |
OMIM:259600 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi... |
OMIM:612350 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Cryptorch... |
ORPHA:496790 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Anosmia, Pyrif... |
OMIM:147250 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Dental crowding, Abnormally large globe, High palate, Microdon... |
OMIM:269300 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Short stature, Sho... |
OMIM:103580 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Hypogonadism, Sho... |
OMIM:302950 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short stature, Short 1st metacarpal, Joint hyperflexibility, Hip dyspl... |
ORPHA:63442 |
Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Developmental cataract, Inc... |
OMIM:618761 |
Gapo Syndrome |
|
Mandibular prognathia, Dysmenorrhea, Abnormal cerebral vascular morphology, Micrognathia, Thick n... |
ORPHA:2067 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... |
OMIM:614732 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Thin upper lip vermilion, Short stature, Prominent nasal bridge, Single transverse ... |
OMIM:613544 |
Chung-Jansen Syndrome |
|
Anteverted nares, Micrognathia, Tapered finger, Cryptorchidism, Hip dysplasia, Thin vermilion bor... |
OMIM:617991 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, P... |
ORPHA:77298 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:617201 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Submuco... |
ORPHA:2250 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ... |
OMIM:619148 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Micrognathia, High, narrow palate, Large iliac wing, Spina bifida occulta, Bifid uvula, Increased... |
ORPHA:2780 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Retinal detachment, Short metacarpal, Cataract, Prominent nasal bridge, Pr... |
ORPHA:627 |
Temtamy Syndrome |
|
Aortic regurgitation, Brachydactyly, Dental crowding, Convex nasal ridge, Micrognathia, Lens luxa... |
OMIM:218340 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Abnormality of bone ... |
ORPHA:138 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Sho... |
ORPHA:568 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Prominent nasal bridge, Overlapping toe, Clinodactyly of the 5th toe, Po... |
OMIM:614225 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Abnormal denta... |
ORPHA:10 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cryptorchidi... |
ORPHA:3363 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Delayed eruption of teeth, Long toe, Short stature, Arachnodactyly, Decreased fibular... |
OMIM:619489 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Smooth philtrum, Slender nose, Thin upper lip vermilion, Micrognathia, Postnatal growth retardati... |
OMIM:615419 |
Pelvis-Shoulder Dysplasia |
|
Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Microcornea, Iris co... |
ORPHA:2839 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly,... |
OMIM:300577 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Irregular dentition, Cataract, Depressed nasal bridge, Macular coloboma, Macul... |
OMIM:619260 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Short stature, Carious teeth, Cryptorchidism, Deep philtrum, Abnormality of the... |
ORPHA:2701 |
Ruvalcaba Syndrome |
|
Short palm, Short metacarpal, Retinal dystrophy, Short stature, Dental crowding, Underdeveloped n... |
OMIM:180870 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Cataract, Flexion contracture, Hip dysplasia, Short nose |
OMIM:618379 |
Trisomy 18 |
|
Abnormality of the fontanelles or cranial sutures, Microcornea, Holoprosencephaly, Iris coloboma,... |
ORPHA:3380 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Micrognathia, Orofacial cleft, Coxa vara, Aplasia/Hypoplasia of the tibia, Sho... |
ORPHA:1988 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Anteverted nares, Abnormal dental enamel m... |
ORPHA:1458 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d... |
OMIM:204200 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Depressed nasal bridge, Hypospadias, Broad hallux, Micrognathia, Postnat... |
OMIM:614541 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Large fontanelles, Gingival fibromatosis, ... |
ORPHA:1832 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Sclerocornea, Micrognathia, Downturned corners of mouth, High palate, Short ... |
ORPHA:284160 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ... |
ORPHA:485 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Bulbous nose |
ORPHA:411986 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Hypospad... |
OMIM:619736 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Unde... |
OMIM:614230 |
Osteoglosphonic Dysplasia |
|
Severe short stature, Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Rhizomel... |
ORPHA:2645 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Short stature, Ele... |
OMIM:612462 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur... |
OMIM:613849 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Hypospadias, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Cryptorchi... |
OMIM:175700 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Diabetes mellitus, Telangiectasia... |
ORPHA:3019 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Anteverted nares, Prominent nasal bridge, Short stature, Cryptorchidism, Flexion c... |
OMIM:615663 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocornea, Widely pa... |
OMIM:228520 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Short stature, Micro... |
ORPHA:166272 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute... |
ORPHA:73272 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Anteverted nares, Choanal atresia, Micrognathia, Postnatal growth retardation, Crypt... |
ORPHA:494344 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypoplastic nasal bridge, Aplasia/Hypoplasia invo... |
ORPHA:633 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Micrognathia, Abno... |
ORPHA:233 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th... |
OMIM:613026 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Wide nose, Brachydactyly, Depressed nasal bridge, Anteverted nares, Sh... |
OMIM:614607 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi... |
ORPHA:534 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Bilateral single transverse palmar creases, Rocker bottom foot, Wide nas... |
OMIM:618804 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Retinal detachment, Thin upper lip vermilion, Cataract, Corneal opacity, A... |
OMIM:152950 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Short stature, Rhizomelia, Metaphyseal cupping, Hydrocephalus, Depressed nasal ... |
OMIM:300863 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Microcornea, High palate, Short ... |
OMIM:268400 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Short palm, Hypoplasia of penis, Short humerus, Depressed nasal bridge, Rhizomelia... |
ORPHA:93328 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
3M Syndrome |
|
Congenital hip dislocation, Abnormal cerebral vascular morphology, Micromelia, Clinodactyly of th... |
ORPHA:2616 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia,... |
ORPHA:2097 |
Short Syndrome |
|
Enlarged epiphyses, Micrognathia, Downturned corners of mouth, Megalocornea, Joint laxity, Wide n... |
OMIM:269880 |
Bresek Syndrome |
|
Decreased testicular size, Optic nerve hypoplasia, Convex nasal ridge, Cryptorchidism, Postaxial ... |
ORPHA:85284 |
Filippi Syndrome |
|
Single transverse palmar crease, Underdeveloped nasal alae, Postnatal growth retardation, Cryptor... |
OMIM:272440 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Depressed nasal ri... |
ORPHA:96263 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Downturned corners of mouth, High palate, Widely space... |
OMIM:300882 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the fontanelles or cranial sutures, Reduced bon... |
ORPHA:2108 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Short stature, Toe syndactyly,... |
OMIM:241800 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares |
ORPHA:2015 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... |
OMIM:305400 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Prominent nasal bridge, Morning glory anomaly, Postaxi... |
OMIM:614424 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Optic atrophy, Growth delay, Narrow mouth, ... |
ORPHA:1495 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Epispadias, Vitritis, Retinal ... |
ORPHA:2556 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Microphthalmia, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:141333 |
Ohdo Syndrome |
|
Joint laxity, Small scrotum, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathi... |
OMIM:249620 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, External genital hypoplasia, Micrognathia, Generalized joint laxity,... |
ORPHA:251028 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
Acromicric Dysplasia |
|
Short palm, Short metacarpal, Severe short stature, Anteverted nares, Brachydactyly, Joint stiffn... |
ORPHA:969 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Postaxial polydacty... |
OMIM:615986 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Flexion contracture, Micropen... |
OMIM:616897 |
Distal Deletion 6P |
|
Micrognathia, Orofacial cleft, Hypoplasia of the iris, Downturned corners of mouth, Short philtru... |
ORPHA:96125 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Small scrotum, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae... |
ORPHA:228390 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitar... |
OMIM:206900 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Abnormality of the fontanelles or cranial sutures, Microcornea, Microphthalmia, ... |
ORPHA:2432 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... |
ORPHA:1427 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration, Abnormality of the dentition |
OMIM:251700 |
14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, ... |
ORPHA:261120 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Prominent veins on trunk, Coxa ... |
ORPHA:2962 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Thick na... |
ORPHA:192 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Sagittal cranios... |
OMIM:145420 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... |
OMIM:277440 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Downturned corners of mouth, High palate, Prominent metopic ridge, Anteverted nares... |
OMIM:613792 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Clitoral hypoplasia, Sho... |
OMIM:268310 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Branchial cyst, Thin upper lip vermilion, Anteverted nares, Optic... |
OMIM:615583 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate, Intrauterine growth retardation, Conve... |
OMIM:600252 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Anteverted nare... |
OMIM:616331 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Cataract, Depressed nasal bridge, Short stature, Tented upper lip vermilion, ... |
OMIM:619833 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Joint dislocation, Dental crowding, Knee flexion contracture, High palate,... |
OMIM:193700 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormo... |
OMIM:616007 |
Hurler Syndrome |
|
Metaphyseal widening, Flexion contracture, Microdontia, Retinal degeneration, Anteverted nares, D... |
OMIM:607014 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Short philtrum, Foot oligodactyly, Hypothyroidism, Synostosis of... |
ORPHA:3258 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger... |
ORPHA:137834 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... |
ORPHA:763 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Smooth philtrum, Thin upper lip vermilion, Short stature, Depressed nasal bridge, Growth delay, L... |
ORPHA:438178 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Corneal opacity, Accessory oral frenulum, Micrognathia, Wide ant... |
OMIM:619339 |
Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas... |
ORPHA:420561 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Clinodactyly of the 5th finger, Iris coloboma, Broad hallux phalanx, Short stature, ... |
ORPHA:250989 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Multiple joint contractures, Congenital hip dislocation, Overlapping fingers, Femur fracture, Mic... |
OMIM:618291 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly, Microcornea, Clinodactyly of the 5th finger, B... |
ORPHA:2710 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short stature, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... |
ORPHA:163966 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat... |
OMIM:224300 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, Abnormal... |
OMIM:210600 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Brachydactyly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Spli... |
ORPHA:2145 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Short stature, Micrognathia, Underdeveloped nasal alae, Patchy atrophy of the retinal pigment epi... |
ORPHA:436245 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Depressed nasal bridge, Retinal dystrophy, Broad nasal tip, Wide an... |
OMIM:222448 |
Marden-Walker Syndrome |
|
Hypospadias, Anteverted nares, Arachnodactyly, Micrognathia, Postnatal growth retardation, Crypto... |
OMIM:248700 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ... |
OMIM:613406 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Micrognathia, ... |
ORPHA:1556 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Dow... |
ORPHA:264200 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, ... |
ORPHA:66625 |
Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Microcornea, Ambiguous ge... |
OMIM:260660 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Delayed epiphyseal ossification, Deep philtrum, Anteverted nares, Depressed nasal bri... |
OMIM:613320 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Cataract, Hypogonadotropic hypogonadism, Decreased response to growth ... |
ORPHA:289494 |
3C Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, High, narrow palate, Abnormality of the fo... |
ORPHA:7 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Anteverted nares, Depressed nasal bridge, Short stature, Arachnodactyl... |
ORPHA:2719 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Thin upper lip vermilion, Depressed nasal bridge, Decreased response to growth hormon... |
OMIM:241410 |
Mietens Syndrome |
|
Sclerocornea, Coxa vara, Microcornea, Clinodactyly of the 5th finger, Elbow ankylosis, Hypoplasia... |
ORPHA:2557 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda... |
ORPHA:235 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Opacificat... |
OMIM:270200 |
Trisomy 9P |
|
Dental crowding, Bilateral single transverse palmar creases, Abnormal nasal morphology, Abnormal ... |
ORPHA:236 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnormality of the testis... |
ORPHA:99330 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Radio... |
OMIM:194350 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Median cleft lip, Corneal opacity, Toe syndactyly, Micrognathia, Underdevelope... |
ORPHA:1234 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Abnormality of the dentition, Cryptorchidism, Postaxial hand polyda... |
ORPHA:1702 |
Morm Syndrome |
|
Micropenis, Cataract, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone... |
OMIM:601794 |
Hartsfield Syndrome |
|
Encephalocele, Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft... |
ORPHA:2117 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Brachydactyly, Hypospadias, Prominent nasal bridge, Craniosynostosis, Mic... |
ORPHA:96097 |
Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Multiple joint contractures, High, narrow palate, Microcornea, Mac... |
ORPHA:33364 |
Joubert Syndrome 37 |
|
Wide nose, Prominent metopic ridge, Anteverted nares, Short stature, Postaxial polydactyly, Crypt... |
OMIM:619185 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Microcornea, Short philtrum, Cli... |
ORPHA:819 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Limitation ... |
ORPHA:2547 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro... |
ORPHA:3472 |
Jacobsen Syndrome |
|
Micrognathia, Flexion contracture, Microcornea, Clitoral hypoplasia, Holoprosencephaly, Chorioret... |
OMIM:147791 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Micrognathia, Cryptorchidism, Non-... |
ORPHA:3376 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Calcan... |
ORPHA:79345 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital hip dislocation, Dental crowding, Micrognathia, High pala... |
ORPHA:96170 |
Three M Syndrome 1 |
|
Mandibular prognathia, Joint dislocation, Clinodactyly of the 5th finger, Spina bifida occulta, S... |
OMIM:273750 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... |
OMIM:601224 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Clitoral hypertrophy, Brachydactyly, Hypoplastic ischia, Micrognathia, B... |
ORPHA:313855 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... |
OMIM:616300 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Cleft ala nasi, Dental crowding, Abnormal thymus m... |
OMIM:219000 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, High palate, Thick upper lip vermilion, ... |
ORPHA:560 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Anophthalmia, Sclerocornea, Rhizomelia, Precocious puberty, 2-3 toe syndac... |
OMIM:615877 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Hypospadias, Short stature, Bilateral single transverse pal... |
ORPHA:1786 |
Perlman Syndrome |
|
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, High, narrow palate, Open mo... |
ORPHA:2849 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Long nose, Patellar hypoplasia, High palate, Microdontia, Juvenile... |
ORPHA:221016 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Orofacial cleft, Uveitis, Spina bifida occulta, Finger syndactyly, Abno... |
ORPHA:464 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Single transverse palmar crease, Micrognathia, Bulbous nose, Hydrocephalu... |
OMIM:614219 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Anophthalmia, Single transverse palmar crease, Sclerocornea, Micrognathia, Adrenal... |
OMIM:607932 |
C Syndrome |
|
Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh... |
OMIM:211750 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Knee flexion contracture, Short philtrum, Wrist flexion contracture, Dislocated rad... |
OMIM:610758 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Depressed nasal bridge, Corneal opacity, Anteverted nares, Patent ductus arteriosu... |
OMIM:618961 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Osteoarthr... |
ORPHA:666 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmonary artery atresia, ... |
ORPHA:1692 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor... |
OMIM:194190 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Abnormal dental enamel morphology, Patc... |
ORPHA:2323 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Anteverted nares, Wide ... |
OMIM:311900 |
Frontorhiny |
|
Encephalocele, Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal ... |
ORPHA:391474 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar... |
OMIM:612394 |
Achondrogenesis Type 1B |
|
Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossificatio... |
ORPHA:93298 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cataract, Palmar ... |
ORPHA:77301 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios |
ORPHA:397590 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Short stature, Patent ductus arte... |
ORPHA:290 |
Peho-Like Syndrome |
|
Tapered finger, Optic atrophy, Short nose, Retrognathia, Open mouth |
OMIM:617507 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Single transverse palmar crease, Micro... |
OMIM:613604 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Craniosynostosis, Short ... |
OMIM:601853 |
Hec Syndrome |
|
Communicating hydrocephalus, Abnormal retinal vascular morphology, Abnormal pupil morphology, Vag... |
ORPHA:2119 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Finger clinodactyly, High palate, Abnormality of t... |
ORPHA:99776 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Ambiguous genitalia, Micropenis, Retinopathy |
OMIM:614464 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Spina bifida occulta, S... |
OMIM:617877 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... |
OMIM:264700 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Depressed nasal bridge, Retinal dystrophy, Wide anterior fontanel, Bicornuate... |
ORPHA:2143 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Abnormal dental enamel morphology, Joint stif... |
ORPHA:816 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Crypto... |
ORPHA:3121 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Corneal opacity, Micrognathia, Optic atrophy, Developmental cataract, Hip ... |
OMIM:617183 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Abnormally large globe |
OMIM:611936 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Smooth philtrum, Thin upper lip vermilion, ... |
ORPHA:401935 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bifid scrotum, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cutane... |
OMIM:211380 |
Achondrogenesis Type 1A |
|
Short palm, Multiple rib fractures, Severe short stature, Anteverted nares, Recurrent fractures, ... |
ORPHA:93299 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Short philtrum, Triphalangeal thumb, Advanced eruption of teeth, Spina bifida occul... |
ORPHA:949 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Clinodactyly, Uveitis, Microcornea, High palate, Joint contracture of t... |
OMIM:164200 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Clinoda... |
OMIM:113620 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Ectopia lent... |
ORPHA:2325 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Prolonged bleeding time, Odontodysplasia, Pulp obliterat... |
ORPHA:49042 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Red... |
ORPHA:740 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Flexion contracture, Optic atrophy, Vascular granular osmiophilic material deposition, Macular de... |
OMIM:256730 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Mend Syndrome |
|
Cataract, Short stature, Prominent nasal bridge, Broad hallux, Micrognathia, Asymmetry of the mou... |
ORPHA:401973 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ... |
ORPHA:2083 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Cat-Eye Syndrome |
|
Short stature, Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Ir... |
ORPHA:195 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Cataract, Short stature, Overlapping toe, Cleft lip, Bulbous nose, Deep philtr... |
OMIM:618571 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tachycardia, Brachydactyly, Decreased response to growth hormone stimulation test,... |
ORPHA:485405 |
Momo Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormality of the thyroid gland, Bilateral microphthal... |
ORPHA:2563 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Cataract, Congenital hip dislocation, Short stature, Narrow nasal ridge, Cr... |
OMIM:219150 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Short stature, Clinodactyly, Peters anomaly, Microphthalmia, Ocular anterior segment ... |
OMIM:610023 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Abnormal hip joint morphology, Cataract, Hypoplasia of the ulna, Broad hallux... |
ORPHA:1856 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... |
OMIM:214800 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Cataract, Anteverted nares, Depressed... |
OMIM:600373 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha... |
ORPHA:363741 |
Cockayne Syndrome A |
|
Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi... |
OMIM:216400 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Arachnodactyly,... |
ORPHA:377 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, C... |
OMIM:616638 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Short stature, Micrognathia, Cryptorchidism, Congestive heart failure... |
ORPHA:2505 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Promine... |
ORPHA:364577 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Developmental cataract, Retinal dysplasi... |
ORPHA:324416 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Knee flexion contracture, Femoral... |
OMIM:601559 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ... |
OMIM:190350 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, Broad hallux, Sin... |
OMIM:614105 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... |
ORPHA:93324 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Microdontia, Juvenile cataract, Hypothyroidism, Short phalanx of... |
ORPHA:221008 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Prominent nose, High palate, Spontaneous conjunctival filtering bleb, Bifid uvula, Joint laxity, ... |
OMIM:601552 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Osteoporosis, Cone-shaped epiph... |
ORPHA:71267 |
Myopathy, Tubular Aggregate, 1 |
|
Joint contracture, Flexion contracture, Weakness of the intrinsic hand muscles, Abnormal pupil mo... |
OMIM:160565 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi... |
OMIM:209900 |
Trisomy 12P |
|
Short stature, Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypop... |
ORPHA:1699 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Abnormality of the dentition, Bowing of the legs, Micromelia, Increased suscept... |
OMIM:241500 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Severe short stature, Bilateral single... |
ORPHA:2511 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
Proboscis Lateralis |
|
Anophthalmia, External genital hypoplasia, Single naris, Orofacial cleft, Abnormality of the maxi... |
ORPHA:141099 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Palmar pits, Iris coloboma, Vertebral fusion, Odontogenic keratocysts of t... |
OMIM:109400 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Abnormally large globe, Hypoplastic pubic bone, Gingiv... |
OMIM:614592 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o... |
OMIM:600002 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
Aymé-Gripp Syndrome |
|
Oligodontia, Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ridge, Depressed nas... |
ORPHA:1272 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, K... |
OMIM:118650 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp... |
OMIM:235510 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares |
ORPHA:1450 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Micrognathia, Abnormally large globe, High palate, Short palm, Megalocornea, Short ph... |
OMIM:249420 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomat... |
ORPHA:2215 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short palm, Short metacarpal, Short stature, Dental crowdin... |
OMIM:190351 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Clinodactyly, Orofacial cleft, Downturned ... |
OMIM:180700 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Hydrocephalus, Flexion contracture, Developmental cataract, Abnormal left vent... |
OMIM:613155 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ri... |
ORPHA:166277 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Retinal thinning, Short stature, Coxa valga, Genu valgum, Asteroi... |
OMIM:132450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Occipital encephalocele, Cataract, Corneal opacity, Optic nerve hypoplasia, R... |
OMIM:236670 |
Seckel Syndrome 2 |
|
Hypospadias, Short stature, Prominent nose, Micrognathia, Heart murmur, Growth delay, Clinodactyl... |
OMIM:606744 |
Frontofacionasal Dysplasia |
|
Encephalocele, Cataract, Depressed nasal bridge, Choanal atresia, Short stature, Brushfield spots... |
ORPHA:1791 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Developmental cataract, Microcornea, Mulberry m... |
OMIM:302350 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Hypothyroidism, Joint lax... |
ORPHA:391408 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Hypoplasia of the ma... |
ORPHA:50814 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Neonatal short-limb short stature, Distal shortening of limbs, Increased bone miner... |
ORPHA:50945 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Short stature, Micrognathia, Microcornea, Iris transill... |
OMIM:617306 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Optic atrophy, Wid... |
OMIM:218400 |
Dubowitz Syndrome |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the iris, High palate, Clinodactyly ... |
OMIM:223370 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Short stature, Depressed nasal ridge... |
ORPHA:1816 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Optic atrophy, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal p... |
ORPHA:2787 |
Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, Overlapping fing... |
OMIM:617822 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Postaxial hand polydactyly, Dilated cardiomyopath... |
OMIM:615981 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, D... |
ORPHA:394 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Short fourth metatars... |
OMIM:615546 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Clin... |
ORPHA:96148 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Genu varum, Anteverted nares,... |
OMIM:271510 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Encephalocele, Short metacarpal,... |
OMIM:108720 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Short fo... |
OMIM:615994 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Joint stiffness, Avascular necrosis... |
OMIM:132400 |
Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Delayed erupt... |
OMIM:265800 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Open mouth, Macroorchidism, S... |
OMIM:300143 |
Isolated Ectopia Lentis |
|
Mandibular prognathia, Cataract, Joint stiffness, Ectopia lentis, Hypertension, Ectopia pupillae,... |
ORPHA:1885 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Bi... |
ORPHA:87 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Hypospadias, Cryptorchidism, Polydactyly, Intrauterine growth retardation... |
OMIM:616910 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short metatarsal, Macular degeneration, Widely spaced teeth, High palat... |
OMIM:266920 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Depressed nasal bridge, Short stature, Sandal gap, Postaxial pol... |
OMIM:617102 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypopl... |
ORPHA:861 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia |
OMIM:268010 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F... |
ORPHA:2092 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Mi... |
ORPHA:2484 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Anteverted nares, Micrognathia, Precocious puberty, Bilateral tripha... |
OMIM:619356 |
Trisomy 17P |
|
Hypoplasia of penis, Micrognathia, Prominent nose, Flexion contracture, Orofacial cleft, High pal... |
ORPHA:261290 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce... |
OMIM:619795 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
Spermatogenic Failure 81 |
|
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... |
OMIM:620277 |
Ellis-Van Creveld Syndrome |
|
Epispadias, Hypoplastic iliac wing, Neonatal short-limb short stature, Hypospadias, Abnormality o... |
OMIM:225500 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Femoral bowing, Tibial bowi... |
ORPHA:289157 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ... |
OMIM:605130 |
Emanuel Syndrome |
|
Broad jaw, Congenital hip dislocation, Truncus arteriosus, Dental crowding, Delayed eruption of p... |
OMIM:609029 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cataract, Anteverted nares, Single transvers... |
OMIM:247200 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho... |
ORPHA:1473 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Short distal ph... |
OMIM:614608 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Microg... |
ORPHA:404440 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... |
ORPHA:1135 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Mirage Syndrome |
|
Overlapping fingers, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Short statu... |
OMIM:617053 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Thin upper lip vermilion, Hypoplasia of penis, Brachydactyly, Hypogonadotropic hyp... |
ORPHA:1295 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Long nose, Tracheobronchomalacia, Oligodontia, Short palm, Hypospadias, Astigmat... |
OMIM:619184 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Woolly Hair Nevus |
|
Precocious puberty, Widely-spaced incisors, Persistent pupillary membrane, Heterochromia iridis, ... |
ORPHA:79414 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Micrognathia, Micropenis, Hypospadias, Anteverted nares, Depressed nasal bridge, S... |
OMIM:257300 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Diabetes mellitus, Single transverse palmar crease, Broad nasal tip, Clino... |
ORPHA:391372 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, Generalized joint laxity, High palate, Microretrognathia, Abnormal blee... |
ORPHA:2953 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Microcornea, High palate, Wrist flexion contracture, Pursed ... |
ORPHA:800 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Depressed nasal bridge, Toe syndactyly, Supernumerary nipple, Persist... |
ORPHA:46627 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Cataract, Short stature, Carious teeth, Bilateral cryptorchidism, Developmental cata... |
OMIM:616395 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Micromelia, High, nar... |
OMIM:122470 |
Menkes Disease |
|
Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intracranial ... |
OMIM:309400 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Short stature, Craniosynostosis, Underdev... |
OMIM:250410 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Retinal vascular malformation, Cerebral cavernous malformation |
OMIM:116860 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Abnormality o... |
ORPHA:84 |
Cockayne Syndrome B |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of t... |
OMIM:133540 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Achondrogenesis |
|
Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossificatio... |
ORPHA:932 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Maturity-onset diabetes of the young, Microg... |
ORPHA:96184 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact... |
OMIM:210720 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Short stature, High, narro... |
ORPHA:2714 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Keratitis, Vitritis, Abnormal rib morphology, Intracranial hemorrhage, ... |
ORPHA:1163 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath... |
ORPHA:2980 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... |
OMIM:119600 |
Roifman Syndrome |
|
Narrow nasal bridge, Noncompaction cardiomyopathy, Hip contracture, Thin upper lip vermilion, Hyp... |
ORPHA:353298 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hem... |
ORPHA:335 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Short stature, Severe short stature, Micrognathia, Cryptorchidism, Patent ductus ar... |
OMIM:601186 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... |
ORPHA:561 |
Gapo Syndrome |
|
Micrognathia, High, narrow palate, Eruption failure, Megalocornea, Keratoconus, Anteverted nares,... |
OMIM:230740 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Proximal placeme... |
OMIM:217980 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Aplasia/Hy... |
ORPHA:264450 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Retinal detachment, Rieger anomaly, Prominent metopic ridge, Tented upper ... |
ORPHA:521445 |
Werner Syndrome |
|
Cataract, Diabetes mellitus, Short stature, Osteoporosis, Reduced bone mineral density, Hypogonad... |
OMIM:277700 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Marbach-Rustad Progeroid Syndrome |
|
Prominent superficial veins, Short stature, Femur fracture, Delayed eruption of primary teeth, Mi... |
OMIM:619322 |
3Q29 Microduplication Syndrome |
|
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Craniosynostosis, Abnormality of the dentitio... |
ORPHA:251038 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin... |
OMIM:617602 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Down Syndrome |
|
Depressed nasal ridge, Abnormality of the fontanelles or cranial sutures, Downturned corners of m... |
ORPHA:870 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of pe... |
OMIM:618506 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Hypoplast... |
OMIM:263650 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Tented upper lip vermilion, Short palm, Clinodactyly of the 5th finger, Abnormal n... |
ORPHA:363659 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Dental crowding, Narrow nasal ridge, Micrognathia, Insulin-resistant... |
OMIM:608612 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Alg3-Cdg |
|
Osteopenia, Cataract, Abnormality of the nose, Abnormality of the endocrine system, Metaphyseal c... |
ORPHA:79321 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Short stature, Osteoporosis, Dispro... |
ORPHA:85194 |
Cockayne Syndrome |
|
Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retin... |
ORPHA:191 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... |
ORPHA:435638 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Cryptorchidism, Bulbous nose, Hig... |
OMIM:618494 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Micrognathia, Generalized joint laxity, Abnormal optic disc morphology, Hy... |
ORPHA:508498 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Postnatal growt... |
OMIM:179613 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Wide nose, Angina pectoris, Anteverted nares, Short stature, Micr... |
ORPHA:109 |
Microphthalmia, Syndromic 13 |
|
Short stature, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced ... |
OMIM:300915 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Overtubulated long bones, Short metacarpal, S... |
OMIM:618150 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Sclerocornea, Micrognathia, Proximal placement of thumb, Holoprosencephaly, ... |
ORPHA:818 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ... |
OMIM:618914 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Acromicric Dysplasia |
|
Short palm, Short metacarpal, Severe short stature, Anteverted nares, Bulbous nose, Deep philtrum... |
OMIM:102370 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Reduced bone mineral density, Genu valgum, Downturned corners... |
ORPHA:2983 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Micropenis, Lon... |
ORPHA:163979 |
Lathosterolosis |
|
Hypoplasia of penis, Cataract, Anteverted nares, Prominent metopic ridge, Toe syndactyly, Microgn... |
ORPHA:46059 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Prominent nose, High palate,... |
ORPHA:363528 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Small scrotum, Short stature, Prominent na... |
ORPHA:85201 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Tricuspid regurgit... |
OMIM:253200 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Broad r... |
OMIM:139210 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Micrognathia, Prominent nose, Long nose, Microcornea, Heterochromia iridis, Iris coloboma, Promin... |
ORPHA:2995 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Knee flexion contractu... |
OMIM:114300 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Prominent nasal bridge, Bilateral cryptorchidism, Patent ductus arterios... |
OMIM:618652 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... |
OMIM:613451 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration, Distal upper limb muscle weakness, Distal upper limb amyotrophy |
OMIM:619764 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Unilateral cryptorchidism, Elbow contracture, Short stature, Postnatal growth retarda... |
OMIM:616489 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... |
ORPHA:97360 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Abnormal fin... |
ORPHA:2658 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, Congenital hip dislocation, High palate, Narrow mouth, Clinodacty... |
ORPHA:217385 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Short stature, Bifid nasal tip, Unilateral microphthalmos,... |
OMIM:618874 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal bleeding, Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opaci... |
ORPHA:357058 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Cryptorchidism, Clinodactyly, Small hand, Wide nasal bridge, Wide mouth... |
OMIM:614684 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Cataract, Depressed nasal bridge, Short stature, Flexion contractu... |
ORPHA:35173 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Decreased response to growth hormone stimulation test, B... |
OMIM:216550 |
Potocki-Shaffer syndrome |
|
Abnormality of the male genitalia, Delayed cranial suture closure |
DECIPHER:34 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem... |
ORPHA:326 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Brachydactyly, Anteverted nares, Dental crowding, Bulbous nose, Clinod... |
OMIM:616354 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsulin... |
ORPHA:79474 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Retinal degeneration, Papilledema, Short stature, Abnormal foveal mo... |
ORPHA:580 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Short stature, Pr... |
ORPHA:2107 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Growth delay, Optic atrophy, Retinal degeneration |
OMIM:614322 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... |
ORPHA:2831 |
Fanconi Anemia, Complementation Group S |
|
Anteverted nares, Prominent nasal bridge, Short stature, Underdeveloped nasal alae, Macrodontia, ... |
OMIM:617883 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial... |
OMIM:251230 |
Fetal Hydantoin Syndrome |
|
Bifid scrotum, Short stature, Cryptorchidism, Depressed nasal ridge, Abnormality of the fontanell... |
ORPHA:1912 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Micromelia, Hypoplasia of the maxilla, Increased bone minera... |
ORPHA:1798 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... |
OMIM:607323 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul... |
OMIM:259710 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... |
ORPHA:2050 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac... |
OMIM:610967 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Iris colo... |
OMIM:102500 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Anteverted nares, Decreased response to growth hormone stimulation tes... |
OMIM:615866 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Microphallus,... |
ORPHA:94065 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Buphthal... |
OMIM:618005 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Micrognathia, Microdontia, Intrauterine growth retardation, Hypothyroidism, Depressed nasal bridg... |
OMIM:620005 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... |
ORPHA:1133 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Prominent nose, Short philtrum, Pulmonary artery atresia, Long toe, Hypospadias, Anteverted nares... |
OMIM:618316 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth |
OMIM:613670 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Micrognathia, Prominent nose, High palate, Widely spaced teeth, Microdontia, Micro... |
OMIM:300895 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cataract, Congestive heart failure, Anosmia, Cardiomyopathy, Arrhythmia,... |
OMIM:266500 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Downturned corners of... |
OMIM:156200 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Depressed nasal b... |
ORPHA:2025 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Wide nose, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Postnatal grow... |
ORPHA:254531 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Flexion contracture, Microcornea, Lentiglobus, Retinal degener... |
ORPHA:90324 |
Acrocephalopolydactyly |
|
Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Premature closure of f... |
ORPHA:221054 |
3Q29 Microdeletion Syndrome |
|
Cataract, Hypospadias, Prominent nasal bridge, Dental crowding, Abnormality of the dentition, Tap... |
ORPHA:65286 |
Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Short tibia, Depressed nasal bridge, Rhizomelia, Increased f... |
OMIM:258315 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract i... |
ORPHA:3078 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Brachydactyly, Small scrotum, Cataract, Depressed nasal bridge, Rocker ... |
OMIM:601353 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Supernumerary nipple,... |
OMIM:613884 |
Monosomy 18P |
|
Short stature, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Downturned corners o... |
ORPHA:1598 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Peripheral retinal avascularization, Tented upper lip vermilion, External ... |
ORPHA:96334 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:615485 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn... |
ORPHA:85184 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Prominent nasal bridge, Proportionate short stature, Precocious puberty, Short toe, C... |
OMIM:619269 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Tapered finger, Intraventricular hemorrhage, Hydrocepha... |
OMIM:613603 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardat... |
OMIM:608940 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Short stature, Hypoplastic scapulae, Hypoplastic ilia, Optic disc col... |
OMIM:169550 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Abnormal left ventricular function, Pulmonary artery atresia, Micropenis, Hypospadias, Short stat... |
OMIM:301056 |
Moderate Hemophilia A |
|
Abnormal bleeding, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Arthropathy... |
ORPHA:169805 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Anteverted nares, Micrognathia, Precocious puberty, Cryptorchidism, Hi... |
ORPHA:96092 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Short stature, Sandal gap, Pulmonary arterial hypertension, Long philtrum, Mic... |
OMIM:300887 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur... |
ORPHA:2063 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Juvenile catarac... |
ORPHA:2909 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Genu recurvatum, Short stature, Optic atrophy, Reduced bone mineral density, Do... |
ORPHA:1185 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Scapular winging, ... |
OMIM:272460 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Sand... |
OMIM:617752 |
Trisomy 20P |
|
Micrognathia, Reduced bone mineral density, Downturned corners of mouth, Short philtrum, Microdon... |
ORPHA:261318 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Marshall-Smith Syndrome |
|
Irregular dentition, Large sternal ossification centers, Bilateral cryptorchidism, Distal widenin... |
OMIM:602535 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, High pa... |
OMIM:300232 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Severe short stature, Anteverte... |
OMIM:612921 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Anophthalmia, Cleft ala nasi, Dental crowding, Orofacial clef... |
ORPHA:2052 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Spina bifida occulta |
ORPHA:1514 |
Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Hypoplasia of the maxilla, High palate, Micropenis, Anteverted n... |
OMIM:608156 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... |
ORPHA:828 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Micromelia, Pre... |
OMIM:612651 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Optic atrophy, Decreased fertility, Hypoplasia of teeth, Microcornea, Growth de... |
OMIM:234050 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul... |
OMIM:616580 |
Mucolipidosis Iv |
|
Corneal opacity, Optic atrophy, Hypergastrinemia, Opacification of the corneal stroma, Retinal de... |
OMIM:252650 |
Antley-Bixler Syndrome |
|
Anteverted nares, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness... |
ORPHA:83 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec... |
ORPHA:955 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Depressed nasal bridge, Hydrocephalus, Polydactyly, Microphthalmia, Smo... |
OMIM:602501 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Diabetes mellitus, Short stature, Cryptorchidism, Optic atrophy, Cardiom... |
OMIM:249270 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nas... |
ORPHA:306542 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, High palate, Broad hallux phalanx, Hypospadias, Short ... |
ORPHA:251071 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Large posterior fontanelle, Micrognathia, Preaxial polydactyly, Absent nasal bridge, Narrow great... |
OMIM:617925 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Hydrocephalus, Flexion contracture, Microphthalmia, Retinal deg... |
OMIM:615249 |
Norrie Disease |
|
Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Hypoplasia of the iris, Uterine ru... |
ORPHA:649 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Fo... |
ORPHA:2879 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, E... |
ORPHA:2211 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cryptorchidism, Cataract, Optic disc pallor |
OMIM:613730 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Cataract, Hypospadias, Single transverse palmar ... |
OMIM:123450 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, S... |
OMIM:612530 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Cataract, Block vertebrae, Anteverted nares, Pr... |
OMIM:304050 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... |
ORPHA:177907 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Abnormal pupil morpholo... |
ORPHA:261552 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Short stature, Prominent nose, Short middle phalanx of... |
OMIM:617926 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla... |
OMIM:620099 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Retinal atrophy, Split hand, Wide nasal bridge, Vascular granular osmiophilic material deposition... |
OMIM:610127 |
Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Micropht... |
OMIM:602361 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti... |
OMIM:267750 |
Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Wide ... |
OMIM:616920 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Congenital hip dislocation, Increased T3/T4 ratio, Congenital hypothyr... |
OMIM:614450 |
Dural Sinus Malformation |
|
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hyd... |
ORPHA:97339 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Microcornea, Knee dislocation, Shoulder dis... |
ORPHA:536545 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Hand muscle atrophy, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Hand muscle atrophy, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:363958 |
Noonan Syndrome 13 |
|
Micrognathia, High palate, Widely spaced teeth, Microdontia, Joint laxity, Prominent metopic ridg... |
OMIM:619087 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Clinodactyly, Downturned corners of mouth, Clitoral hypoplasia, Pulmonary artery at... |
OMIM:616894 |
Wolfram Syndrome 1 |
|
Cataract, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Optic atrophy, Limited mobility ... |
OMIM:222300 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Spina bifida, Chorioretinal degeneration |
OMIM:311000 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Cataract, Tapered finger, Flexion contracture, Hyperextensibility at wrists,... |
ORPHA:544503 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Lissencephaly 8 |
|
Occipital encephalocele, Cataract, Optic atrophy, Talipes equinovarus, Microphthalmia |
OMIM:617255 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia, Cataract |
OMIM:278780 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, U-Shaped upper lip vermilion, Hypospadias, Anteverted nares, ... |
OMIM:610253 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Hypertension, Ever... |
ORPHA:181 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Prominent nasal bridge, Hydrocephal... |
OMIM:243605 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Metaphyseal cupping, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Oculotrichoanal Syndrome |
|
Bifid nasal tip, Microphthalmia, Anophthalmia |
ORPHA:2717 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Anteverted nares, Short stature, Dental crowding, Persistence of primary teeth, Micrognathia, Thi... |
OMIM:618342 |
Lathosterolosis |
|
Bilobate gallbladder, Micrognathia, Ambiguous genitalia, male, High palate, Thick upper lip vermi... |
OMIM:607330 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Hypospadias, Anteverted nares, Tented upper lip vermilion, Single transverse palmar cre... |
OMIM:616449 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Premature thelarche, Micrognathia, Hypoplasia o... |
OMIM:180849 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Tetrasomy 5P |
|
Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Postnatal growth retardation, Cong... |
ORPHA:3309 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Hydrocephalus, Supernumerary ribs, Chorioretinal coloboma, Short ... |
ORPHA:163961 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... |
ORPHA:1553 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Abnormal external genitalia, Abnormal nostril morphology, Narr... |
ORPHA:3469 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Depressed nasal bridge, Promin... |
ORPHA:794 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Anteverted nares, Clinodactyly of the 5th finger, Decreased skull oss... |
OMIM:601163 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of the phalanges ... |
OMIM:615630 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Calcaneovalgus deformity, High palate, Micropenis, Depressed nasal bridge, S... |
OMIM:612513 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short me... |
OMIM:608328 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Prolonged bleeding after dental extraction, Epistaxis, Prolonged bleeding foll... |
ORPHA:325 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Cataract, Corneal opacity, Hypoplasia of the maxilla, Bilateral microphthalmos, Recurr... |
ORPHA:2399 |
Trigonocephaly 1 |
|
Craniosynostosis, High, narrow palate, Long penis, Wide nasal bridge, Metopic synostosis, Long ph... |
OMIM:190440 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverte... |
OMIM:614701 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Wide nose, Anophthalmia, Cataract, Anteverted nares, Chorioretinal dysplasia,... |
ORPHA:2526 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific... |
OMIM:166750 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Protruding tongue, Postnatal ... |
OMIM:300963 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Advanced ossification of c... |
OMIM:269250 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... |
OMIM:112350 |
Fryns Syndrome |
|
Tented upper lip vermilion, Hypospadias, Corneal opacity, Anteverted nares, Micrognathia, Median ... |
ORPHA:2059 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Dental crowding, Underdevelo... |
OMIM:618825 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Prolonged QT interval, Increased bone mineral density, Cataract, Depre... |
ORPHA:94089 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Ambiguous... |
OMIM:249000 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... |
OMIM:277450 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Short metacarpal, Short stature, Cleft upper lip, Optic atro... |
OMIM:201180 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Generalized joint... |
ORPHA:93932 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal bridge, Short st... |
OMIM:616723 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Sho... |
OMIM:180860 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... |
OMIM:268300 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Abnormality of the uteru... |
ORPHA:567 |
Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Promine... |
OMIM:609625 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Knee flexion contracture, Ab... |
OMIM:271665 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Depressed nasal ridge, Pterygium... |
OMIM:256520 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Depressed nasal bridge, Exaggerated cupid's bow, Supernumerary nipple, Single trans... |
OMIM:620098 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurren... |
ORPHA:565 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... |
OMIM:613382 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, High, narrow palate, Abnormal left ventricular function, Abdo... |
ORPHA:91387 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion... |
OMIM:618618 |
Manitoba Oculotrichoanal Syndrome |
|
Bifid nasal tip, Microphthalmia, Anophthalmia, Broad nasal tip |
OMIM:248450 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Abnormally large glo... |
OMIM:239300 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Anteverted nare... |
OMIM:619879 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Premature thelarche, Abnormal hand morphology, Osteolysis involving bone... |
ORPHA:371428 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Choanal stenosis, High palate, Bifid uvula, Hypospadias, Anteverted nares, Depress... |
OMIM:123790 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Abnormality of the gingiva, High, narr... |
ORPHA:3107 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata... |
OMIM:616294 |
Sotos Syndrome |
|
Joint laxity, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Broad nasal tip, C... |
OMIM:117550 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Short stature, Dental crowding, Micrognathia... |
ORPHA:813 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Long philtrum, Short nose, Thick vermilion border, Ectopia lentis |
ORPHA:833 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Ankle swelling, Wrist swelling, Retinal pigment epithelia... |
ORPHA:448237 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Abnormality ... |
OMIM:617406 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Severe short stature, Broad long bones, Micromelia, Increased skull ossificatio... |
ORPHA:1422 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S... |
OMIM:278250 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk... |
OMIM:221900 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Orofacial cl... |
OMIM:309800 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Persistent open anterior fontanelle, Dental crowding, Arachnodactyly, Narrow mouth,... |
OMIM:615539 |
Subaortic Stenosis-Short Stature Syndrome |
|
Anteverted nares, Short stature, Bilateral single transverse palmar creases, Micrognathia, Type I... |
ORPHA:3191 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Hypoplastic n... |
OMIM:186500 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Decreased calva... |
OMIM:259440 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Choan... |
OMIM:620186 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Short stature, Micrognathia, Tapered finger, Wide nasal bridge, Hypopla... |
ORPHA:2479 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short... |
OMIM:611717 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Adnp Syndrome |
|
Single transverse palmar crease, Abnormal finger morphology, Advanced eruption of teeth, Juvenile... |
ORPHA:404448 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, V... |
ORPHA:959 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre... |
OMIM:114290 |
Desmosterolosis |
|
Increased bone mineral density, Severe short stature, Depressed nasal bridge, Micromelia, Microgn... |
ORPHA:35107 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High, narrow palate, High pala... |
OMIM:214100 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Brachydactyly, Anteverted nares, Short stature, Cleft soft palate, Broad nasal tip, Micrognathia,... |
OMIM:618529 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Short stature, Delayed closure of the anterior fontanelle, Micrognathia... |
OMIM:225410 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Wide nose, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, High ... |
OMIM:147060 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Pitt-Hopkins Syndrome |
|
Single transverse palmar crease, Short metatarsal, Finger clinodactyly, Short philtrum, Micropeni... |
ORPHA:2896 |
Say-Barber-Miller Syndrome |
|
Micrognathia, Patellar hypoplasia, Knee flexion contracture, Macular degeneration, High palate, U... |
ORPHA:3132 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:613456 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Lip pit, Unicoronal synostosis, Preaxial han... |
OMIM:601707 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Microretrognathia, Prolonged bleeding time, Angulated humerus, Short stature, Recurre... |
OMIM:616229 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal... |
OMIM:608022 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Abnormal palmar dermatoglyphics, Postnatal growth retardation, Cryptorchidism, Hea... |
ORPHA:2728 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Short stature, Hydrocephalus,... |
OMIM:300558 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Microcornea, High pala... |
OMIM:244450 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Hypospadias... |
OMIM:611209 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, Cryptorchidism... |
ORPHA:2789 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Clinodactyly of the 5th ... |
ORPHA:2769 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Microcornea, Short philtrum, Joint contracture of th... |
ORPHA:363611 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... |
OMIM:615777 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Wide nasal bridge |
OMIM:301018 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Shortening of all distal phalanges of the fingers, Increased circu... |
ORPHA:79320 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Toluene Embryopathy |
|
Short stature, Micrognathia, Tapered finger, Cryptorchidism, Thin vermilion border, Hypoplasia of... |
ORPHA:1920 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Anteverted nares, Depressed nasal bridge, Short stature, M... |
OMIM:215150 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Micrognathia, Tapered finger, Wide nasal bridge, Thin vermilion border, Long philtrum... |
ORPHA:1438 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p... |
ORPHA:2429 |
Fetal Trimethadione Syndrome |
|
Hypospadias, Depressed nasal bridge, Micrognathia, High palate, Transposition of the great arteri... |
ORPHA:1913 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Deep philtrum, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Antever... |
OMIM:227330 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... |
ORPHA:1782 |
Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh... |
OMIM:601358 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Ocular albi... |
ORPHA:1352 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Choanal stenosis, High palate, Microdontia, Long... |
OMIM:259775 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Delayed cranial suture closure... |
OMIM:619383 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypergonadotropic hypogonadism, Short stature, Broad nasal tip, Underdeve... |
ORPHA:250999 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Mi... |
OMIM:615147 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Diabetes mellitus, Subarachnoid hemorrhage,... |
ORPHA:36382 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High... |
OMIM:135500 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse... |
OMIM:601957 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Microphallus, Clinodac... |
OMIM:618454 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Smooth philtrum, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, Arteria l... |
OMIM:618653 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Broad hallux, Underdeveloped nasal alae, Postnata... |
ORPHA:276432 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Downturned corners of mou... |
ORPHA:261494 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Microcornea, High palate, Ecchymosis, Abnormal anter... |
OMIM:601776 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen... |
OMIM:301040 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Heart block, Anosmia, Cardiomyop... |
ORPHA:773 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retr... |
OMIM:619981 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, ... |
OMIM:302960 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Short stature, Prominent nasal brid... |
ORPHA:1587 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Protein-losing enteropathy, Cirrhosis, Steatorrh... |
OMIM:602579 |
Chops Syndrome |
|
Cataract, Anteverted nares, Short stature, Cryptorchidism, Patent ductus arteriosus, High, narrow... |
OMIM:616368 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Median cleft lip, Hypospadias, Craniosynostosis, Cleft upper lip, Alobar h... |
OMIM:615465 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Micrognathia, Optic atrophy, Congenital contracture, High palate, Short... |
OMIM:615042 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Metaphyseal dysplasia, Anteverted nares, Short stature, Optic neuropathy, Broad femor... |
OMIM:619727 |
Coffin-Siris Syndrome 6 |
|
Depressed nasal bridge, Short stature, Broad nasal tip, Micrognathia, High, narrow palate, Deep p... |
OMIM:617808 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... |
OMIM:617061 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Short stature, Delayed c... |
OMIM:618460 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis, Abnormal epi... |
OMIM:619248 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Micromelia, Microcornea, Downturn... |
ORPHA:199 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Short stature, Recurrent fractures, Arachnodac... |
OMIM:614856 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion con... |
OMIM:248370 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasa... |
OMIM:620370 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Choanal a... |
ORPHA:280200 |
Neuhauser Syndrome |
|
Osteopenia, Iridodonesis, Depressed nasal bridge, Genu recurvatum, Short stature, Micrognathia, A... |
OMIM:249310 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Flexion contracture, Atrioventricular block, Reduced bone mineral density, Thick nas... |
ORPHA:581 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, High palate, Bi... |
OMIM:616364 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Tortuous cerebral arteries, Joint laxity, Aortic regurgitation, Corneal opacity, Post... |
OMIM:616603 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Short stature, Flexion contracture, Triangular mouth, Telangiectasia, Microcornea, Kera... |
OMIM:601675 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Hypogonadotropic hypogonadism, Short stature, Tapered finger, Cryptorchidism, Pate... |
OMIM:617159 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Wide nose, Cataract, Corneal opacity, Vaginal neoplasm, Short stature, Micr... |
ORPHA:1052 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cataract, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia,... |
OMIM:613150 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Increased bone mineral density, Short stature, Micrognathia, Hydrocephalus, Cr... |
OMIM:259720 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Alexander Disease |
|
Microcoria, Hydrocephalus |
OMIM:203450 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Radial club hand, Preaxial hand polydactyly, Short metatarsal, Wi... |
ORPHA:1278 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Microcornea, Abnormal pulmonary vein morphology, Clitoral hypoplasia, W... |
ORPHA:709 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
Jacobsen Syndrome |
|
Microcornea, Long hallux, Broad columella, Iris coloboma, Broad hallux phalanx, Finger syndactyly... |
ORPHA:2308 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Single transvers... |
OMIM:269150 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Anteverted nares, Hydrocephalus, Pol... |
ORPHA:59315 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur... |
OMIM:239000 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Myopic astigmatism,... |
OMIM:617802 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Abnormal so... |
ORPHA:884 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short... |
ORPHA:2751 |
Mandibuloacral Dysplasia |
|
Dental crowding, Delayed cranial suture closure, Micrognathia, Abnormally large globe, Postnatal ... |
ORPHA:2457 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nip... |
ORPHA:1812 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, B... |
OMIM:213980 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Micrognathia, Knee flexion contracture, Oligodontia, High palate, Chorioretinal coloboma, Clinoda... |
OMIM:210730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve... |
OMIM:614643 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... |
ORPHA:95717 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, High palate, Long philtrum, Short nose, Delayed puberty |
ORPHA:2598 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno... |
OMIM:617952 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, External genital hypoplasia, Micrognathia, Deep philtrum, D... |
ORPHA:329178 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Downturned corners of mo... |
ORPHA:79500 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed nasa... |
OMIM:613457 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbo... |
ORPHA:263463 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Developmental And Epileptic Encephalopathy 28 |
|
Anteverted nares, Optic atrophy, Long philtrum, Hand clenching, Retinal degeneration |
OMIM:616211 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Severe short stature, Anteverted nares, Decreased response to growth hormone s... |
OMIM:616835 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Short stature, Optic atrop... |
OMIM:614381 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Neonatal s... |
ORPHA:289 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Tricuspid regurgitation, Anteverted nares, Camptodactyly of finger, Short stat... |
ORPHA:261211 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Optic atrophy, Recurrent fractures |
ORPHA:2773 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormal pupi... |
ORPHA:286 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Single transverse palmar crease, Micrognathia, Prominent... |
OMIM:620185 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Joint stiffness, Cryptorchidism, Non-... |
ORPHA:1752 |
Acrofacial Dysostosis, Weyers Type |
|
Overlapping fingers, Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Sma... |
ORPHA:952 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Hypospadias, Decreased response to growth hormone stimu... |
OMIM:180500 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Ectopia lentis |
OMIM:272300 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
Coffin-Siris Syndrome |
|
Clinodactyly, Papillary thyroid carcinoma, Thick nasal alae, Joint laxity, Hypospadias, Anteverte... |
ORPHA:1465 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Severe short stature, Depressed nasal bridge, Joint stiffness, Tap... |
ORPHA:2746 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Hypoplasia of the fovea, Retinal detachment, Cataract, Short stature, ... |
OMIM:308300 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Short stature, Narrow nasal ridge, Micrognathia, Prominent nose, Optic atrophy, Hypopla... |
OMIM:251300 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Prominent superficial veins, Congenital hip dislocation, Bowing of the long bones, Na... |
OMIM:612940 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Micropenis, Sho... |
OMIM:134780 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
3Mc Syndrome |
|
Supernumerary nipple, Craniosynostosis, Bilateral cryptorchidism, Abnormal nasal morphology, Post... |
ORPHA:293843 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Short stature, Abnormality of the dentition, Precocious puberty, Tapered finger, Thi... |
ORPHA:261652 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Short stature, Micrognathia, Broad nasal tip, Postnatal growth retarda... |
OMIM:300867 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometrorrhagia, Joint hemorrhage, Pr... |
ORPHA:98879 |
Sweeney-Cox Syndrome |
|
Micrognathia, Bilateral cryptorchidism, High palate, Short philtrum, 2-5 toe syndactyly, Median c... |
OMIM:617746 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Depressed nasal ridge, Holoprosenceph... |
ORPHA:672 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Communicating hydrocephalus, Hyperparathyroidism, Femoral bowing, Anteverted nares, D... |
OMIM:618188 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R... |
OMIM:619636 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Frontofacionasal Dysplasia |
|
Cataract, Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, ... |
OMIM:229400 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Hypoparathyroidism, Cataract, Short stature, Abnormal dental enamel mo... |
ORPHA:2238 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Anteverted nares, Short stature, Delayed closure of the anterior font... |
ORPHA:357074 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Finger syndactyly, Cataract, Anteverted nares, Depressed nasal bridge, Sho... |
OMIM:181270 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Prominent nasal bridge, Tapered finger, Patent ductus arteriosus, Flexion contractur... |
OMIM:613870 |
Baker-Gordon Syndrome |
|
Joint laxity, Thin upper lip vermilion, Prominent nasal tip, Short nose, Smooth philtrum |
OMIM:618218 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... |
ORPHA:268261 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Dysphagia, ... |
ORPHA:2070 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi... |
OMIM:143095 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Short stature, Recurrent fractures, Bowed humerus, Thin long bone diaphyses, Intrav... |
OMIM:616507 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... |
ORPHA:93351 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Depressed nasal bridge, Decreased response to growth hormone stimulation te... |
OMIM:614114 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Large fontane... |
ORPHA:73230 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania... |
ORPHA:136 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Long philtru... |
OMIM:219200 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Advanced eruption ... |
ORPHA:769 |
Myhre Syndrome |
|
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... |
ORPHA:2588 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... |
OMIM:300373 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short palm, Thin upper lip vermilion, Small scrotum, Hypospadias, Depressed nasal bridge, Short s... |
OMIM:616734 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Prominent veins on trunk, Coxa ... |
ORPHA:2834 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Mandibular prognathia, Prominent nose, Short metatarsal, Clitoral hypoplasia, Short m... |
OMIM:614813 |
Nephronophthisis 15 |
|
Polydactyly, Retinal degeneration |
OMIM:614845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Microphthalmia |
OMIM:613153 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Generalized osteosclerosis,... |
OMIM:602398 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Recurrent fractures, Abnormal pupil morpho... |
ORPHA:1764 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Joint stiffness, Non-mid... |
ORPHA:1915 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Cataract, Encephalocele, Portal hy... |
ORPHA:974 |
Lateral Meningocele Syndrome |
|
Smooth philtrum, Vertebral fusion, Short stature, Dental crowding, Micrognathia, Cryptorchidism, ... |
OMIM:130720 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia |
OMIM:615181 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... |
ORPHA:54 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... |
OMIM:243150 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalus, Opt... |
ORPHA:370959 |
Unilateral Ocular Duplication |
|
Encephalocele, Median cleft lip, Abnormal pupil morphology, Abnormality of the fontanelles or cra... |
ORPHA:3374 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... |
OMIM:616188 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Knee flexion contracture, Microphallus, Atten... |
ORPHA:468631 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Anteverted nares, Short stature, Corneal opacity, Hydrocephalus, Broad thumb, Retin... |
OMIM:272200 |
Fg Syndrome 5 |
|
Anteverted nares, Hypospadias, Depressed nasal bridge, Diastema, Metopic synostosis, Long philtru... |
OMIM:300581 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the an... |
OMIM:602482 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short finger, Clinodactyly |
OMIM:300049 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Clinodactyly of the 5th fin... |
OMIM:167730 |
Toriello-Carey Syndrome |
|
Short stature, Micrognathia, Postnatal growth retardation, Cryptorchidism, Patent ductus arterios... |
ORPHA:3338 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Clinodactyly of the 5th finger,... |
OMIM:309500 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Li... |
OMIM:601356 |
Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Persistence of primary teeth, Vasculitis, Arthritis, Purpura |
ORPHA:375 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Microcornea, Widely spaced teeth, Chorioretinal coloboma, Iris coloboma, Hypospadi... |
OMIM:235730 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va... |
OMIM:264090 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, Wide nasal bridge, ... |
OMIM:218000 |
Fetal Gaucher Disease |
|
Depressed nasal bridge, Anteverted nares, Flexion contracture, Intracranial hemorrhage, High pala... |
ORPHA:85212 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Cataract, Tapered toe, Tapered finger, Long fingers, Bulbous nose, Dilated cardiomyopat... |
OMIM:608836 |
Arterial Tortuosity Syndrome |
|
Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, Pu... |
ORPHA:3342 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Elbow dislocation, Abnormalit... |
ORPHA:2538 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Peters anomaly, Microphthalmia, Broad thumb, Smooth philtrum, Br... |
OMIM:614526 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Oligodontia, Microdontia... |
OMIM:612289 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Villous atrophy, Microcytic ... |
ORPHA:398063 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Clinodactyly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Chorioretinal col... |
OMIM:280000 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ... |
OMIM:618332 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:603194 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Prominen... |
OMIM:614886 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Smooth philtrum, Pericarditis, Thin upper lip vermilion, Depressed nasal b... |
OMIM:601088 |
Miller-Dieker Syndrome |
|
Anteverted nares, Growth delay, Abnormal upper lip morphology, Clinodactyly of the 5th finger, Sh... |
ORPHA:531 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Optic nerve hypoplasia |
ORPHA:228384 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Lar... |
OMIM:157980 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Choroidal neovascularization, Cryptorchidism, Macular degeneration, Congenital bilate... |
ORPHA:404451 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, High palate, Clinodactyly of the 5th finger, Syndactyly, Hypospadias, Anteverted na... |
OMIM:616975 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,... |
OMIM:135900 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Enlarged interphalangeal joints, Short metacarpal, Short stature, Broad fe... |
OMIM:615222 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Growth delay |
OMIM:614483 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Developmental cataract, Decreased calvarial ossification, Bowing of ... |
OMIM:259410 |
2P15P16.1 Microdeletion Syndrome |
|
High palate, Bilateral single transverse palmar creases, Prominent metopic ridge, Tapered finger,... |
ORPHA:261349 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, Broad proximal phalanges of the hand, H... |
OMIM:607597 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphol... |
ORPHA:464329 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Shor... |
ORPHA:261236 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea... |
OMIM:613443 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... |
ORPHA:2470 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Long nose, Hydroce... |
OMIM:618590 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Retinal dystrophy, Hypoplasia of the femoral head, Macular degeneration, Hypogonadism... |
OMIM:616629 |
Larsen Syndrome |
|
Short metatarsal, Knee dislocation, Spina bifida occulta, Joint laxity, Vertebral fusion, Short m... |
OMIM:150250 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Short stature, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin seq... |
ORPHA:1358 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Short stature, Hypoplasia of the maxilla, Clinodactyly, Optic atrophy, ... |
OMIM:614261 |
Alg9-Cdg |
|
Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uvula, Microretrogn... |
ORPHA:79328 |
Floating-Harbor Syndrome |
|
Enlarged joints, Hypoplasia of the maxilla, Long nose, Oligodontia, Humeral pseudarthrosis, Short... |
ORPHA:2044 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, High palate, Bilateral single transverse palmar crease... |
ORPHA:261112 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia |
OMIM:611134 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Increased bone mineral density, Severe short stature, Short stat... |
OMIM:127000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ... |
OMIM:615398 |
Steinfeld Syndrome |
|
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl... |
OMIM:184705 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Congenital contracture, Prominent palatine ridges, Prominent met... |
ORPHA:97297 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Patent ductus arteriosus, Bulbous nose, Orofacial cleft, Hypoplastic labia m... |
ORPHA:2328 |
Tenorio Syndrome |
|
Osteopenia, Mandibular prognathia, Joint laxity, Wide nose, Anteverted nares, Raynaud phenomenon,... |
OMIM:616260 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration |
OMIM:300438 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Clinodactyly, Flexion contracture, Oligodontia, High palate, Short philtrum, Microp... |
OMIM:309590 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Intracranial hemorrhage, Pseudopapilledema, Stroke |
ORPHA:140989 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cataract, Choanal atresia... |
OMIM:603457 |
Scarf Syndrome |
|
Bifid scrotum, Craniosynostosis, Cryptorchidism, Wide nasal base, Micropenis, Perineal hypospadia... |
ORPHA:3134 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Gastrointestinal angi... |
ORPHA:99147 |
Vascular Hyalinosis |
|
Hematochezia, Premature graying of hair, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... |
OMIM:223800 |
Macular Degeneration, Age-Related, 3 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Joint hypermobility |
OMIM:608895 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand... |
ORPHA:56304 |
Stevenson-Carey Syndrome |
|
Prominent nasal tip, Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin sequ... |
OMIM:611961 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Tented upper lip vermilion, Single transverse palmar cr... |
OMIM:229850 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Spina bifida, Underdeveloped nasal alae, Cleft... |
ORPHA:894 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Joint laxity, Hypospadias, Short stature, Broad hallux, Cryptorchidism, Supernum... |
ORPHA:353281 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f... |
ORPHA:508533 |
Peho Syndrome |
|
Tented upper lip vermilion, Tapered finger, Optic atrophy, Short nose, Retrognathia, Open mouth |
OMIM:260565 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Microdontia, Bifid uvula, ... |
OMIM:613458 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Abs... |
OMIM:609053 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic an... |
OMIM:613795 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Prominent nose, Widely spac... |
OMIM:612474 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short stature, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal... |
ORPHA:1389 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Wormian bones, Radial bowing, Recurrent fractures, Fe... |
OMIM:610915 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Prominent metopic ridge, Hypospadias, Prominent nasal bridge, Supernumerary nipple, Cryptorchidis... |
OMIM:618109 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Pancreatic fibrosis, Short stature, Pancreatic cysts, Horizontal ribs, Ea... |
OMIM:208500 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Shor... |
ORPHA:175 |
Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Maternal diabetes, Micrognathia, Deep phi... |
OMIM:300855 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Short philtrum, Holoprosencephaly, Clinod... |
ORPHA:1449 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Menometrorrhagia, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival ble... |
ORPHA:98880 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Retinal dysplasia, Mi... |
OMIM:615665 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Patent ductus arteriosus, O... |
ORPHA:1790 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short stature, Convex nasal ridge, Abnormal fingertip morphology, Micrognathia, Abnormality of th... |
ORPHA:90154 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Proportionate short stature, Carious teeth, Small han... |
OMIM:244460 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, M... |
OMIM:261540 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Severe short stature... |
OMIM:309900 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Hypoplasia of the thymus, Conjunctivitis, Internal hemorrhage... |
ORPHA:906 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Patent ductus arteriosus, Bulbous nose, Absent cupid's b... |
ORPHA:284169 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Hamartoma of tongue, Patent ... |
OMIM:269860 |
Koolen-De Vries Syndrome |
|
High palate, Widely spaced teeth, Prominent fingertip pads, Iris hypopigmentation, Vertebral fusi... |
OMIM:610443 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Abnormality of retinal pigmentation, Block vert... |
ORPHA:50 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Bilateral cryptorchidis... |
OMIM:619859 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy, Arachnodactyly, Iridocyclitis, Ankle clonus, Hypogonadism, Infertility, Oligomen... |
ORPHA:412057 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Short stature, Optic atrophy, Oligodont... |
ORPHA:447896 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Iris ... |
OMIM:610828 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Choanal stenosis, Short philtrum, High p... |
ORPHA:798 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Short s... |
ORPHA:1908 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Prom... |
OMIM:305450 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Micrognathia, Long fingers, Cleft palate, Microcornea, High palate, Hypop... |
OMIM:156610 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hydrocephalus, Orofacial cleft, Coarctation of aorta, Bifid nose, Chorioretinal col... |
ORPHA:268249 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Large posterior fontanelle, Depressed nasal bridge, Thyroid ... |
ORPHA:95716 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Wide pe... |
ORPHA:3455 |
Poikiloderma With Neutropenia |
|
Joint laxity, Depressed nasal bridge, Short stature, Micrognathia, Carious teeth, Joint stiffness... |
OMIM:604173 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Severe short stature, Intrauterine growth retardation, Broad ... |
OMIM:618724 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Intraventricular hemorrhage,... |
OMIM:616430 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth... |
OMIM:620250 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Abnormality of the dentit... |
ORPHA:77258 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Postnatal g... |
OMIM:309000 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia... |
ORPHA:2166 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, High palate, Short philtrum, Long toe, Hypospadias, Antev... |
ORPHA:3063 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Lip pit, Tapered finger, Br... |
ORPHA:1236 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ... |
ORPHA:2249 |
Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Short stature, Broa... |
OMIM:600430 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Decreased serum testosterone concentration, Abnormal metacarpophalangeal joint morph... |
ORPHA:465508 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Proximal placement of thum... |
OMIM:610759 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Myocardial infarction, Micrognathia, Abnormal cerebral vascular ... |
ORPHA:904 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clin... |
OMIM:616145 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met... |
ORPHA:1540 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Micrognathia, Short me... |
OMIM:216340 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Single naris, Megalopapilla,... |
OMIM:615636 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, High palate, Enlarged ovaries, Prominent metopic ridge, Hypospadias,... |
ORPHA:2745 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Severe short stature, High, narrow palate, Mitral regurgitation, Short palm, Failu... |
ORPHA:3238 |
Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, A... |
ORPHA:45358 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration |
OMIM:520000 |
Farber Disease |
|
Abnormality of the knee, CNS foam cells, Corneal opacity, Short stature, Abnormality of the hand,... |
ORPHA:333 |
Jaberi-Elahi Syndrome |
|
Cataract, Depressed nasal bridge, Joint stiffness, Optic atrophy, Triangular mouth, Talipes equin... |
OMIM:617988 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted nares,... |
ORPHA:2886 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Short stature, Orofacial cleft, Wide mouth, Long philtrum, Microphthalm... |
OMIM:614583 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... |
ORPHA:90795 |
Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus |
ORPHA:858 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Craniosynostosis, Limited elbo... |
OMIM:265050 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Bulbous nose, Short nose |
OMIM:618828 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Hemochromatosis, Type 1 |
|
Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failure, Osteopor... |
OMIM:235200 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Disproportionate shor... |
OMIM:602875 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Hypospadias, Short stature,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Hypospadias, Short stature,... |
ORPHA:353277 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue... |
ORPHA:531151 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Abnormality of the elbow, Intracranial ... |
ORPHA:98878 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Cl... |
OMIM:115150 |
Joubert Syndrome 2 |
|
Encephalocele, Depressed nasal bridge, Retinal dystrophy, Postaxial hand polydactyly, Optic disc ... |
OMIM:608091 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Preaxial hand polydactyly... |
ORPHA:210548 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Cataract, Sclerocornea, Ovotestis, Junctional ectopic tachycardia,... |
OMIM:309801 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Smooth philtrum, Retinal dystrophy, Optic nerve hypoplasia, Convex nasal ridge, Short stature, Cl... |
OMIM:619321 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, ... |
OMIM:613805 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Micrognathia, Hydrocephalus, Optic atrophy, Buphthalmos, Hypoplasia of... |
OMIM:253280 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm... |
ORPHA:1675 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Severe short stature, Bifid nasal tip, Depressed nasal ridge, High palate, ... |
OMIM:616854 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Micrognathia, Flexion contracture, Osteoporosis, Optic atrophy, Facial ... |
OMIM:615851 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High... |
OMIM:614188 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Un... |
ORPHA:2315 |
Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short stature, Abnormal morphology of ulna, Cryptorchid... |
ORPHA:1340 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Supernumerary nipple, Wide anterior fontane... |
ORPHA:457279 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology |
OMIM:217150 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri... |
ORPHA:447788 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ankle clonus, Macular degeneration, Retinal degeneration, Thenar muscle atrophy |
OMIM:604360 |
Peho Syndrome |
|
Anteverted nares, Tapered finger, Open mouth, Hydrocephalus, Flexion contracture, Limitation of j... |
ORPHA:2836 |
Al-Raqad Syndrome |
|
Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly |
OMIM:616459 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Anteverted nares, Decreased heart rate variability, Depressed nasal bridge, Micrognathia, Underde... |
OMIM:619005 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Dental crowding, Single interphalangeal crease of fifth finger, Supe... |
OMIM:257920 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Thi... |
OMIM:610015 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Optic... |
ORPHA:667 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Depressed nasal ridge, Gingival overgrowth, Femoral bowing, Growth delay, ... |
OMIM:248500 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Communicating hydrocephalus, Short stature, Recurrent fractures, Micrognathia, Hydroc... |
OMIM:112240 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Decreased response to growth hormone stimulati... |
ORPHA:488632 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Hand muscle weakness, Abnormal pupil morphology, Split hand, Anisocoria, Ham... |
ORPHA:90658 |
Trisomy 10P |
|
Micrognathia, Orofacial cleft, High palate, Abnormal hip joint morphology, Absent gallbladder, An... |
ORPHA:171929 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Patent ductus arteriosus, Dental malocclusion, Wi... |
OMIM:619149 |
Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Hypospadias, Dep... |
OMIM:275210 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cataract, Depressed nasal bridge, Short stat... |
OMIM:300990 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Abnormality of retinal pigmentation, Meningocele, Chorioretinal coloboma |
ORPHA:2481 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Dysmenorrhea, Precocious atherosclerosis, Micrognathia, Advanced eru... |
ORPHA:280365 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Short stature... |
OMIM:610682 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Brachydactyly, Anteverted nares, Prominent nasal bridge, Short stature, Microg... |
ORPHA:1974 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... |
OMIM:268305 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating growth hormone concentration, An... |
OMIM:613038 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... |
OMIM:614744 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, Cataract, First degree atrioventricular block, Hypogonadism,... |
OMIM:160900 |
Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Short stature, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Ty... |
OMIM:112410 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... |
ORPHA:2314 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Hypospadias, Abnormal dental enamel morphology, Tarsal synostosis, Mi... |
ORPHA:85199 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Pr... |
ORPHA:1225 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Decreased response to growth hor... |
ORPHA:1855 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... |
ORPHA:79319 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Ileus, Hepatitis, Lymphaden... |
OMIM:304790 |
Scarf Syndrome |
|
Bifid scrotum, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Micropenis, Perineal hy... |
OMIM:312830 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Streak ovary, Hypospadias, Micrognathia, Joint stiffness, ... |
OMIM:618820 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,... |
OMIM:112910 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Joint hemorrhage, Prolonged blee... |
ORPHA:328 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Short stature, Optic nerve hypoplasia, Prominent nasal bridge, Broad nasal tip... |
OMIM:300749 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Optic atrophy, Microphthalmia, Cataract, Depressed nasal bridge |
OMIM:612379 |
Brachydactyly, Type E1 |
|
Short metacarpal, Moderately short stature, Short metatarsal, Multiple impacted teeth, Short clav... |
OMIM:113300 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Irregular menstruati... |
OMIM:110100 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Flexion contracture, Ca... |
ORPHA:261537 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short stature, Anteverted nares, Underdeveloped nasal alae, Meningocele, Glossoptosis, Chorioreti... |
ORPHA:2031 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased female libido, Abnormality of the menstrual cycle, Cranial h... |
ORPHA:330015 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Dental crowding, Short metatarsal, High palate, Short metacarpal, Anteverted nares, Depressed nas... |
OMIM:617157 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Short stature, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia |
OMIM:616901 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose... |
OMIM:615803 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Syndactyly, Anteverted nares, Thick lower lip vermilion, Wide nasal bri... |
ORPHA:1942 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Microgn... |
OMIM:309350 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth ret... |
OMIM:266810 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Microcornea, Downturned ... |
OMIM:619539 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... |
OMIM:619854 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners... |
OMIM:136140 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Tali... |
ORPHA:2771 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Cadds |
|
Cataract, Adrenal hypoplasia, Micrognathia, Intrauterine growth retardation, Short nose |
ORPHA:369942 |
Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau... |
OMIM:272950 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Cataract, Short stature, Corneal dystrophy, Sclerocornea, Abnormality of the... |
ORPHA:1806 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S... |
ORPHA:289176 |
Opsismodysplasia |
|
Short palm, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Anterior rib ... |
OMIM:258480 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Cataract, Hydrocephalus, Dilated cardiomyopathy, Flexion contr... |
OMIM:253800 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, Hydroce... |
OMIM:605309 |
Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow... |
OMIM:166200 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Growth de... |
OMIM:614069 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni... |
OMIM:263750 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Short stature, Recurrent fractures, Metaphyseal widening, Pht... |
OMIM:259770 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, Lo... |
OMIM:262190 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos... |
OMIM:604757 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Cataract, Short stature, Abnormality of the dentition, Flexion contracture, Limitation of joint m... |
ORPHA:90153 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Brachydactyly, Prominent nasal bridge, Cryptorchidism, Patent ductus arteriosu... |
ORPHA:1519 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Short palm, Short metacarpals with rounded proximal ends, Wrist flexion contracture, ... |
OMIM:231050 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Atretic gallbladder, Splenomegaly, ... |
ORPHA:30391 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Bowing of the legs, Leukocoria, Telangiectasia, Hypertension, Short lower limbs |
OMIM:219250 |
Bruck Syndrome 2 |
|
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... |
OMIM:609220 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Adrenal hypoplasia, Cleft upper lip, Cryptorchidism, Postaxial h... |
OMIM:264480 |
Dpagt1-Cdg |
|
Prolonged QT interval, Arachnodactyly, Flexion contracture, Osteoporosis, Optic atrophy, Stroke-l... |
ORPHA:86309 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart f... |
ORPHA:94080 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Abnormal optic nerve morphology, Hy... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Abnormal optic nerve morphology, Hy... |
ORPHA:352665 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Abnormality of the hand, Micrognathia, Abnormality of the dentition,... |
ORPHA:476126 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Thin upper lip vermilion, Short stature, Prominent nasal bridge, Fetal intraventricular hemorrhag... |
OMIM:618480 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Hypoplasia of penis, Congenital hip dislocation, High... |
ORPHA:373 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip |
ORPHA:398189 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge... |
OMIM:300912 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Flexion contracture, Ca... |
ORPHA:2152 |
Papillorenal Syndrome |
|
Joint laxity, Retinal detachment, Cataract, Short stature, Morning glory anomaly, Lens luxation, ... |
OMIM:120330 |
Rodrigues Blindness |
|
Narrow nasal bridge, Short stature, Sclerocornea, Microcornea, Microphthalmia, Tooth malposition |
OMIM:268320 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hernia, Intrauterine grow... |
ORPHA:254528 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti... |
OMIM:615948 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po... |
ORPHA:79113 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Wide nose, Small scrotum, Prominent metopic ridge, Epistaxis, Single transverse palmar crease, Cr... |
ORPHA:495818 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Median cleft lip, Hypoplas... |
ORPHA:3186 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Large posterior fontanelle, Depressed nasal bridge, ... |
ORPHA:90674 |
Neonatal Marfan Syndrome |
|
Long toe, Iridodonesis, Tricuspid regurgitation, Arachnodactyly, Micrognathia, Ectopia lentis, Hi... |
ORPHA:284979 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Corneal dystrophy, Delayed eruption of primary teeth, Opa... |
OMIM:180900 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Osteoporosis, Short stature |
OMIM:606054 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Tented upper lip vermilion, Limb joint contracture, Shoulder f... |
OMIM:620369 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,... |
OMIM:231070 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridg... |
ORPHA:261144 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Low hanging columella |
OMIM:619318 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Long philtrum, Malar flatt... |
OMIM:616420 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... |
ORPHA:444077 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Sanda... |
ORPHA:357001 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Broad nasal tip, Wide nasal bridge, Cleft palate, Short... |
OMIM:614749 |
Grant Syndrome |
|
Wormian bones, Down-sloping shoulders, Tibial bowing, Micrognathia |
OMIM:138930 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi... |
OMIM:617865 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Microphthalmia, O... |
OMIM:615145 |
Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodo... |
OMIM:119580 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph... |
OMIM:619127 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Pmm2-Cdg |
|
Osteopenia, Mandibular prognathia, Multiple joint contractures, Prominent nose, Elevated circulat... |
ORPHA:79318 |
Cebalid Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge |
OMIM:618774 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Recurrent fractures, Reduced bone mineral density, Increased suscept... |
OMIM:166220 |
Trichinellosis |
|
Trismus, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Abnorm... |
ORPHA:863 |
Cat Eye Syndrome |
|
Short stature, Micrognathia, Absent radius, Patent ductus arteriosus, Cleft palate, Umbilical her... |
OMIM:115470 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Depressed nasal bridge, Thin lower lip vermilion, Optic atrophy, Wi... |
OMIM:613328 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Cleft palate, H... |
OMIM:614080 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered... |
OMIM:618430 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Anteverted nar... |
OMIM:301044 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitatio... |
ORPHA:508542 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Short nose, Clinodactyly |
OMIM:618087 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short stature, Hypertension, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Downturned corners of mouth, High palate, Short p... |
OMIM:617140 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... |
ORPHA:324636 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Micrognat... |
OMIM:273395 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow... |
OMIM:312870 |
Distal Deletion 15Q |
|
Single transverse palmar crease, Micrognathia, Generalized joint laxity, 2-3 toe cutaneous syndac... |
ORPHA:1596 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Cerebral hemorrhage, Knee contracture, Subdural hemorrhage, High palate, J... |
OMIM:620278 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Conjunctivitis, Ecchymosis, ... |
ORPHA:99827 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Cerebral hemorrhage, Hypoplastic philtrum, Precocious puberty, Cryptorchidism, P... |
OMIM:616682 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Short stature, Leukocoria, Cleft palate, Microphthalmia |
OMIM:257910 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Chorioretinal coloboma, Triphalang... |
ORPHA:857 |
Pierson Syndrome |
|
Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Cardiomyopathy, Short phil... |
OMIM:618437 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Depressed nasal bridge, Camptodactyly of finger, Cr... |
ORPHA:2136 |
Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Thin ribs, Congenital contracture |
OMIM:615368 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Smooth philtrum, Spina bifida, Underdeveloped nasal alae, Myelomeningocele... |
OMIM:193500 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Flexion contracture, Thin ribs, Narrow mouth, Microphthalm... |
OMIM:614833 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single trans... |
OMIM:617527 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Limbal dermoid, C... |
OMIM:164210 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Microcornea, Anterior synechiae of t... |
ORPHA:3214 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Van Esch-O'Driscoll Syndrome |
|
Hypogonadotropic hypogonadism, Depressed nasal bridge, Short stature, Pulmonary artery stenosis, ... |
OMIM:301030 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hydrocephal... |
ORPHA:90065 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Large posterior fontanelle, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ... |
OMIM:250220 |
Knobloch Syndrome |
|
Retinal detachment, Occipital encephalocele, Cataract, Depressed nasal bridge, Ectopia lentis, Pa... |
ORPHA:1571 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Hypoplasia of penis, Anteverted nares, Protruding tongue, Cryptorchidism, C... |
ORPHA:96147 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cerebral... |
ORPHA:29072 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Smooth philtrum, Sandal gap, Carious teeth, Small hand, 2-3 toe syndac... |
OMIM:619229 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, High, narrow palate, Generalized j... |
OMIM:619472 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Mi... |
ORPHA:314655 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short metacarpal, Short stature, Iliac crest serration, H... |
OMIM:607326 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuo... |
OMIM:175780 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Short stature, Enlarged labia minora, Gingival fibr... |
OMIM:266270 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Depressed nasal bridge, Bowed humerus, Hypoplastic iliac... |
OMIM:620076 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar... |
ORPHA:508488 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Short stature, Proximal placement of thumb, Clinodactyly of the 5th ... |
OMIM:620113 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Depressed nasal ridge, Clinodactyly of the 5th finger, Hypothyroidism, Hypos... |
ORPHA:1606 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Single t... |
ORPHA:521426 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Coxa vara, Inc... |
OMIM:610968 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Short stature, Micrognathia, Proximal placement of thumb, Prea... |
OMIM:610536 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Thin upper lip vermilion, Short stature, Osteoarthritis, Subdural hemorrha... |
OMIM:619714 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Ankle clonus, Macular degeneration, Cataract, Tortuosity of conjunctival vessels |
ORPHA:284289 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
C Syndrome |
|
Joint dislocation, Micromelia, Micrognathia, High palate, Clinodactyly of the 5th finger, Disloca... |
ORPHA:1308 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl... |
OMIM:619522 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Severe short stature, Micromelia, Male pseudohermaphroditism, Optic disc colobo... |
OMIM:600092 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Prominent nose, High palate, Intrauterine growth retardation, Syndactyl... |
OMIM:619488 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Patent ductus arteriosus, Recurrent upper respirat... |
OMIM:619769 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Anteverted nares, Exaggerated cupid's bow, Proximal placement of thumb, ... |
OMIM:618619 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Anteverted nares, Short stature, Micrognathia, Cleft soft palate, Cryptorchidism, Pa... |
ORPHA:2282 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Limbal dermoid, Microphthalm... |
OMIM:613001 |
Deeah Syndrome |
|
Overlapping fingers, Short stature, Anterior pituitary hypoplasia, Decreased heart rate variabili... |
OMIM:619004 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum, Shawl scrotum |
ORPHA:85277 |
Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Short stature, Recurrent fractures, Abnormal retinal morphology, Persistence of ... |
ORPHA:2785 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, High palate, Prominent palatine ridges, Microretrognathia, Anteverted... |
ORPHA:280633 |
Vici Syndrome |
|
Micrognathia, Abnormal thymus morphology, High palate, Median cleft palate, Hypopigmentation of t... |
OMIM:242840 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cataract |
OMIM:618805 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Short stature, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia |
OMIM:610651 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Hennekam-Beemer Syndrome |
|
Wide nose, Telangiectasia of the skin, Camptodactyly of finger, Short stature, Micrognathia, Long... |
ORPHA:2135 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Abs... |
OMIM:606895 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, S... |
OMIM:619638 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Abnormal optic nerve m... |
ORPHA:3226 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Absent thumb, Absent radius, Hydrocephalus, Wide nasal bridge, Cleft palate, Depres... |
OMIM:614083 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Diabetes mellitus, Dysmenorrhea, Congestive heart failure, Secondary amenorrhea, Polycystic ovari... |
ORPHA:2348 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar c... |
OMIM:601803 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Short stature, Decreased response to gr... |
ORPHA:319182 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Anteverted... |
ORPHA:2729 |
Hydranencephaly |
|
Stiff neck, Abnormality of fontanelles, Optic nerve hypoplasia, Abnormal internal carotid artery ... |
ORPHA:2177 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Optic atrophy, Hypodontia, Retinal degeneration |
ORPHA:442835 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metaca... |
ORPHA:3404 |
Dermotrichic Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:99688 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ... |
OMIM:619752 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Smooth philtrum, Macular coloboma, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Sub... |
ORPHA:79282 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Ectopic posterior pituitary, Decreased response to growth hormone sti... |
ORPHA:226307 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Overlapping fingers, Short stature, Micrognathia, Protruding tongue, Congestive heart ... |
OMIM:608779 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Impaired myocardial cont... |
ORPHA:158687 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Smooth philtrum, Anteverted nares, Tented philtrum, Buphthalmos, Keratoconjunctivitis sicca, Abse... |
OMIM:618479 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Abnormal pupil morphology |
ORPHA:2151 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Craniosynostosis 4 |
|
Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos... |
OMIM:600775 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia, Micropenis |
OMIM:308350 |
Charcot-Marie-Tooth Disease Type 4C |
|
Tongue atrophy, Optic atrophy, Anisocoria, Hammertoe, Hip dysplasia, Abnormal optic nerve morphol... |
ORPHA:99949 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Short stature, Optic atrophy, Palm... |
OMIM:231550 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss... |
OMIM:210710 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Carious teeth, Abnormality o... |
ORPHA:93 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Early onset of sexual maturation, Microdontia, Clinodactyly of t... |
OMIM:194050 |
Tetrasomy 18P |
|
Large hands, Syncope, Thin vermilion border, Narrow mouth, Short nose, Long philtrum |
ORPHA:3307 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A... |
OMIM:613464 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Depressed nasal ridge, High palate, Triphalangeal thumb, Spina bifida occulta, Shor... |
OMIM:105650 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Nasal congestion, Rod-cone dy... |
OMIM:615434 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Galloway-Mowat Syndrome 3 |
|
Short stature, Arachnodactyly, Micrognathia, Narrow mouth, Hip dislocation, Coarctation of aorta,... |
OMIM:617729 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Protein-losing enteropathy, Decreased liver fu... |
OMIM:608104 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Short stature, Cranial hyperostosis, Hypoplastic sweat glands, Oligodontia, Hypodontia |
OMIM:601345 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Single transverse palmar crease, High, narrow palate, Short philtrum, High palate,... |
OMIM:619475 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Hypothyroidi... |
OMIM:607872 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Abnormality of the upper limb,... |
ORPHA:624 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Astigmatism, Retinal degeneration, Vascular granular osmiophilic material deposition |
ORPHA:168491 |
Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Hypoplastic ischia, Micrognathia, Prominent nose, Knee... |
OMIM:606170 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Abnormal dental morphology, Micrognath... |
ORPHA:369950 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, High palate, Hypothyroidism, Joint laxity, Hypospadias, Anteverted nares, Depressed... |
OMIM:619325 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Development... |
OMIM:171300 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Hip dislocation, Wide mouth, Long philtrum, Short nose |
OMIM:608776 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Decreased skull ossification, Aplasia/Hypo... |
ORPHA:1662 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Cryptorchidism, Short... |
OMIM:227645 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Usher Syndrome, Type Ig |
|
Rod-cone dystrophy, Hypoplasia of the nasal bone |
OMIM:606943 |
Bothnia Retinal Dystrophy |
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Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Corneal opacity... |
ORPHA:137675 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Open mouth, ... |
OMIM:608013 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... |
ORPHA:2363 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Sclerocornea, Dila... |
OMIM:300952 |
Fanconi Anemia, Complementation Group F |
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Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis... |
OMIM:603467 |
Brachydactyly-Syndactyly Syndrome |
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Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Noonan Syndrome 3 |
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Hypoplastic nasal bridge, Anteverted nares, Short stature, Sagittal craniosynostosis, Cryptorchid... |
OMIM:609942 |
Microphthalmia, Syndromic 11 |
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Microphthalmia |
OMIM:614402 |
Occipital Horn Syndrome |
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Osteopenia, Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Short palm, Larg... |
ORPHA:198 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Conical tooth, Chorioretinitis, Panuveitis,... |
OMIM:301081 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Osteopenia, Prolonged bleeding following procedure, Oral ulcer, Gingivitis, Periodontitis, Hypoth... |
ORPHA:79259 |
Hsd10 Disease, Infantile Type |
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Hypertrophic cardiomyopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
ORPHA:391428 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Disproportionate sh... |
OMIM:619131 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
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Macular degeneration, Cataract, Stroke-like episode |
OMIM:619780 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... |
ORPHA:542306 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Sinusitis, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Protruding tong... |
OMIM:242860 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Stroke-like... |
OMIM:185070 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... |
OMIM:617137 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Bulbous nose, Nar... |
OMIM:618644 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
Fanconi Anemia, Complementation Group R |
|
Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Growth delay, Microphthalmia, Radial dy... |
OMIM:617244 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Cdags Syndrome |
|
Hypospadias, Sagittal craniosynostosis, Large fontanelles, Cleft palate, Rectovaginal fistula, Sh... |
OMIM:603116 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Prominent nose, Anisocoria, Downturned corners of mouth, Adrenal insuffi... |
OMIM:615510 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cere... |
ORPHA:90307 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum, Bifid uvula, Absent gallb... |
ORPHA:500150 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Delayed eruption of teeth, Sinusitis, Osteomyelitis, Decreased response to growth hor... |
ORPHA:811 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Distal Deletion 9P |
|
Hypospadias, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, ... |
ORPHA:1642 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Decreased liver function |
ORPHA:79327 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage, Growth delay, Recurrent sinusitis |
OMIM:243700 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Neonatal insulin-dependent diabetes mellitus, Micrognathia, Precocious puberty, Cry... |
ORPHA:96191 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Optic atrophy, Micrognathia |
OMIM:256600 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Phace Association |
|
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Patent ductus arteriosus, ... |
OMIM:606519 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Reduced bone mineral densit... |
ORPHA:99413 |
White-Kernohan Syndrome |
|
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n... |
OMIM:619426 |
Mosaic Monosomy X |
|
Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Reduced bone mineral densit... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Reduced bone mineral densit... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Reduced bone mineral densit... |
ORPHA:881 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... |
OMIM:618371 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... |
OMIM:602499 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormal limb bone morphology, Abnormality of macular pigmentation, Short s... |
ORPHA:1573 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... |
OMIM:619503 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Cry... |
OMIM:227650 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ... |
ORPHA:90362 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, 11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Abn... |
ORPHA:50810 |
Hunter-Macdonald Syndrome |
|
Pseudoepiphyses, Short philtrum, Clinodactyly of the 5th finger, Hypospadias, Short stature, Pate... |
OMIM:611962 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Depressed nasal bridge, Micrognathia, Split hand, Primary adrenal insufficiency, Larg... |
OMIM:261515 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... |
OMIM:235255 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Geleophysic Dysplasia 2 |
|
Smooth philtrum, Thin upper lip vermilion, Short palm, Short stature, Tricuspid stenosis, Joint s... |
OMIM:614185 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Anteverted nares, Epispadias, Growth delay, Abnormal conj... |
ORPHA:3339 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Partial anosmia, Anosmia, Anisocoria, Abnormal verteb... |
ORPHA:247245 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Preaxial hand polydactyly, Postaxial h... |
OMIM:236680 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... |
OMIM:120200 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... |
ORPHA:210122 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia |
OMIM:616538 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Bull's eye maculopathy, Fractures of the long bones, Optic atrophy, Pigmentary retino... |
ORPHA:157850 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovasculari... |
OMIM:264800 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... |
OMIM:300424 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Patent ductus arteriosus, Thin ribs, Bradycardia, Petechiae |
OMIM:617397 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Cryptorchidism, Paten... |
OMIM:227646 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Cryptorchidism, Short... |
OMIM:600901 |
Meningioma |
|
Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro... |
ORPHA:2495 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni... |
ORPHA:1071 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatosis of radius, Abnormal... |
ORPHA:99646 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrh... |
ORPHA:71 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi... |
OMIM:182250 |
Mosaic Trisomy 16 |
|
Large placenta, Single umbilical artery, Premature birth, Intrauterine growth retardation |
ORPHA:1708 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Diabetes insipidus, Proboscis, Adrenal hypo... |
OMIM:157170 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Catara... |
ORPHA:90349 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:731 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cerebral... |
ORPHA:276621 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Cerebral arteriovenous malformation, Sclerocornea, Hypothyroidi... |
ORPHA:42775 |
Arachnoid Cyst |
|
Encephalocele, Subarachnoid hemorrhage, Abnormality of the endocrine system, Hydrocephalus, Holop... |
ORPHA:2356 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Transient ischemic attack, Ankle swelling, Supraventricular arrhythmia, Pulmonary ... |
ORPHA:3260 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t... |
OMIM:609638 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Craniosynostosis, Moyamoya phenomenon |
ORPHA:401986 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu... |
OMIM:616602 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Diffuse telangiectasia, Concave nasal ridge, High palate, S... |
OMIM:170100 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy... |
OMIM:171420 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Joint stiffness, Conge... |
ORPHA:505248 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Hypospadias, Short stature, Cryptorchidism, Gout, Wide mouth, High palate... |
OMIM:300661 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Cog1-Cdg |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Micrognathia, Postnatal growth... |
ORPHA:263508 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Abnormally large globe, Micrognathia, Underdevel... |
ORPHA:435628 |
Nephronophthisis 11 |
|
Anisocoria, Growth delay, Retinal degeneration |
OMIM:613550 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Patent ductus arteriosus |
ORPHA:99811 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Short stature, Palmoplantar keratoderma, Hypodontia, Enamel hypoplasia |
OMIM:616029 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Patent ductus arteriosus, Limitation of joint mobility, Osteoporosis, La... |
OMIM:259100 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Toe syndactyly, Finger syndactyly, Cleft palate |
ORPHA:261272 |
Lymphedema-Distichiasis Syndrome |
|
Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose veins, Corneal ul... |
OMIM:153400 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Chorioretinitis, Odontogenic keratocysts of the jaw, Bowin... |
ORPHA:199276 |
Revesz Syndrome |
|
Leukocoria, Exudative retinopathy, Intrauterine growth retardation, Megalocornea, Oral leukoplakia |
OMIM:268130 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Growth delay, Wide mouth, Lo... |
OMIM:103050 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Splenomegaly, Cryptorchidism, Low anterior hairline, Low posterior hairline, Macrog... |
OMIM:618440 |
Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Pulmonary artery stenosis, Short philtrum, Wormian bones, Umbilical he... |
OMIM:617237 |
Kagami-Ogata Syndrome |
|
Postnatal growth retardation, Large placenta, Premature birth, Polyhydramnios |
ORPHA:254519 |
Parietal Foramina 1 |
|
Wormian bones, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... |
OMIM:149730 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se... |
OMIM:157640 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Choanal stenosis, Micropenis,... |
ORPHA:83617 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Palmo... |
ORPHA:3353 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Mandibular prognathia, Prominent nasal tip, Small scrotum, Thin upper lip vermilion... |
OMIM:620330 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Wide mouth, Breast ... |
ORPHA:1231 |
Trichohepatoenteric Syndrome 1 |
|
Short stature, Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Intra... |
OMIM:222470 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:616896 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... |
ORPHA:1655 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Finger syn... |
ORPHA:1433 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp... |
OMIM:300755 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Synophrys, Protein-losing enteropathy |
OMIM:618154 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Joint dislocation, Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Tented upper lip vermilion, Short stature, Broad nasal tip, Wide nasal bridge, Cleft palate, Shor... |
OMIM:614207 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Orofaciodigital Syndrome Iii |
|
Bulbous nose, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot pol... |
OMIM:258850 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Deep philtrum, Abnormality of the adrenal glands |
ORPHA:289483 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Intraventricular hemorrhage, Telangiectasia, Arthriti... |
ORPHA:420741 |
Neurooculorenal Syndrome |
|
Iris atrophy, Ectopic posterior pituitary, Decreased circulating cortisol level, Short hallux, Mi... |
OMIM:620305 |
Dihydropyrimidinase Deficiency |
|
Growth delay, Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Absent toe, Short metatarsal, Fibular hypopl... |
OMIM:228900 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Venous insufficiency, Osteoarthritis, Abnormality of the gingiva, Gingivitis, ... |
ORPHA:285 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Alport Syndrome |
|
Posterior subcapsular cataract, Renal glomerular foam cells, Abnormal corneal endothelium morphol... |
ORPHA:63 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Hypoplastic sweat glands, Cleft palate, Palmar hyperlinearity, Concave nasal ridge, ... |
OMIM:617337 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Unilateral microphthalmos, Osteopetrosis |
OMIM:615085 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Hypoplasia of the uterus, Microphthalmia, Vaginal atresia,... |
OMIM:617914 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Short stature, Tapered finger, Flexion contrac... |
OMIM:301072 |
1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Micrognathia, Wide mouth, Astigmatism, Short nose, Joint hypermobility |
ORPHA:293948 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Elevat... |
OMIM:263400 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, T... |
ORPHA:494424 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... |
OMIM:611131 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Hypothyroidism, Joint laxity, Hypospadias, Cryptorch... |
ORPHA:821 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:270700 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Aortic regurgitation, Corneal opacity, Genu recurvatum, Delayed cranial... |
ORPHA:90348 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short stature, Cleft upper lip, Rib fusion, Cleft palate, Wide mouth, Bifid ribs, Shor... |
ORPHA:1394 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Pachyonychia Congenita |
|
Natal tooth, Angular cheilitis, Palmoplantar blistering, Palmoplantar keratoderma, Palmoplantar h... |
ORPHA:2309 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Growth delay, Hypogonadism, Testicular atrophy, Oral leukoplakia |
OMIM:618165 |
Dend Syndrome |
|
Prominent metopic ridge, Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodacty... |
ORPHA:79134 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Congestive heart failure, Abnormal pancre... |
ORPHA:48818 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth,... |
OMIM:619179 |
Cherubism |
|
Jaw swelling, Macular scar, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Nar... |
OMIM:118400 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Ectopia lentis, Lens luxation, Growth delay, Thick vermilion border, Long philtrum, Short nose |
OMIM:252160 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... |
ORPHA:1666 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Ectopia lentis, Lens luxation, Growth delay, Thick vermilion border, Long philtrum, Short nose |
OMIM:252150 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Metopic synostosis, Narrow mouth, Short nose |
OMIM:613735 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia, Abnormality of the endocrine s... |
OMIM:129550 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, ... |
OMIM:107480 |
Isolated Exencephaly |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleto... |
ORPHA:563612 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Absent nipple, Depressed nasal bridge, Abnormal oral mucosa morpholo... |
OMIM:305100 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Joubert Syndrome 6 |
|
Retinal degeneration, Bile duct proliferation, Chorioretinal coloboma |
OMIM:610688 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, ... |
ORPHA:51636 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Protein-losing enteropathy |
ORPHA:95428 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Lesch-Nyhan Syndrome |
|
Short stature, Podagra, Hip dislocation, Testicular atrophy |
OMIM:300322 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Vater/Vacterl Association |
|
Syndactyly, Abnormal nasopharynx morphology, Occipital encephalocele, Hypospadias, Choanal atresi... |
OMIM:192350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus, Delayed cranial suture closure |
ORPHA:616 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ... |
OMIM:278730 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... |
ORPHA:90291 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardat... |
ORPHA:79284 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous... |
ORPHA:79076 |
Gaucher Disease, Type I |
|
Epistaxis, Macular atrophy, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, ... |
OMIM:230800 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93924 |
Infant Botulism |
|
Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis |
ORPHA:178478 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Type II diabetes mellitus, Mydriasis |
ORPHA:247815 |
Holoprosencephaly 1 |
|
Proboscis, Alobar holoprosencephaly, Aplasia of the nose, Microphthalmia, Ethmocephaly |
OMIM:236100 |
Alström Syndrome |
|
Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ... |
ORPHA:64 |
Fraser Syndrome 2 |
|
Wide nose, Underdeveloped nasal alae, Cutaneous syndactyly, Hypoplasia of the thymus, Narrow mout... |
OMIM:617666 |
Aceruloplasminemia |
|
Diabetes mellitus, Retinal degeneration |
OMIM:604290 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Progressive flexion contractures, Equinus calcaneus, 2-3 ... |
ORPHA:522077 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Talip... |
OMIM:617821 |
Steinert Myotonic Dystrophy |
|
Tented upper lip vermilion, Prolonged QRS complex, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormality of the dentition, Hypertension, Breast aplasia, ... |
ORPHA:2036 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Supernumerary nipple, Cleft upper lip, Pulmonary artery stenosis, ... |
OMIM:100300 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormalit... |
ORPHA:1811 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Growth delay, Testicular atrophy, Oral leukoplakia |
OMIM:613987 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Retinoblastoma |
|
Vitritis, Leukocoria, Cleft palate, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, P... |
OMIM:180200 |
Wound Botulism |
|
Cardiac arrest, Mydriasis |
ORPHA:178475 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis |
ORPHA:254509 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Cataract, Pulmonary arteriovenous malformation, Narrow nasal ridge, Larg... |
OMIM:606721 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Dental crowding, Delayed eruption of primary teeth, Growth delay, Astigmatism, Wid... |
OMIM:617799 |
Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:1267 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Abnormality of the dentition, Adrenocortical carcinoma, Supernumerary t... |
ORPHA:79665 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Foodborne Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:228371 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension, Mydriasis |
ORPHA:43116 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Mydriasis, Cardiac conduction abnormality, Congestive heart fai... |
ORPHA:466677 |
Treacher Collins Syndrome 1 |
|
Choanal atresia, Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft... |
OMIM:154500 |
Linear Nevus Sebaceus Syndrome |
|
Genu recurvatum, Growth delay, Adenoma sebaceum, Microphthalmia, Iris coloboma |
ORPHA:2612 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... |
ORPHA:512 |
Arteriosclerosis, Severe Juvenile |
|
Central fundal arteriolar microaneurysms, Short stature, Myocardial infarction, Central retinal v... |
OMIM:208060 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Depressed nasal bridge, Macular atrophy, Wide nasal bridge, Primary amenorrhea... |
OMIM:619418 |
Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615558 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypertension, Mitra... |
ORPHA:363618 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Senior-Loken Syndrome 8 |
|
Retinal dystrophy, Macular atrophy, Pancreatic cysts, Polydactyly, Rod-cone dystrophy, Vascular d... |
OMIM:616307 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time, Intrauterine growth retardation |
OMIM:619055 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Cardiac conduction abnormality, Downturned corners of mouth, Cardiomyopa... |
ORPHA:2131 |
Pachyonychia Congenita 2 |
|
Natal tooth, Angular cheilitis, Palmoplantar hyperkeratosis, Palmoplantar hyperhidrosis, Oral leu... |
OMIM:167210 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Congenital hypertrophy of retinal p... |
OMIM:175100 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... |
OMIM:155310 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the dentition, Abnormality of the thyroid gland, Supern... |
ORPHA:733 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Peroxisome Biogenesis Disorder 4B |
|
Retinal dystrophy, Single transverse palmar crease, Optic atrophy, Adrenal insufficiency, Short n... |
OMIM:614863 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Brain abscess, Gastritis, Hematemesis, Mediastinal lymphadenopathy, ... |
ORPHA:73263 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration |
ORPHA:79244 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lymphoc... |
OMIM:619991 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... |
OMIM:232300 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Retinal degeneration |
ORPHA:2822 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... |
ORPHA:1435 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage... |
OMIM:265380 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ... |
ORPHA:1031 |
Plague |
|
Abnormal bleeding, Chapped lip, Tachycardia, Mydriasis, Hematemesis, Abnormality of the elbow, Ar... |
ORPHA:707 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal libido, Priapism |
ORPHA:139417 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:90062 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival overgrowth, Gingival fibromatosis, Delayed eruption o... |
OMIM:204690 |
Beckwith-Wiedemann Syndrome |
|
Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia |
ORPHA:116 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Thoracic aortic aneurysm, Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary arter... |
OMIM:619351 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Penile Agenesis |
|
Depressed nasal bridge, Maternal diabetes, Cryptorchidism, Bilateral talipes equinovarus, Absent ... |
ORPHA:49 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... |
OMIM:605808 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Cryptorchidism, Protein-losing enteropathy |
OMIM:618183 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Choroidal hemangioma, Retinal cavernous angioma, Cerebral hemorrhage |
ORPHA:221061 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Macular degeneration |
ORPHA:247234 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Pigmentary retinopathy, Optic atrophy, Retinal degeneration |
OMIM:234200 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Congestive heart failure, Macular degeneration, Abnormal fundus morphology |
ORPHA:94147 |