| Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
| Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Tented Eyebrows |
|
Abnormal hair morphology |
OMIM:611426 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
| Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
| Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Cutaneous syndactyly, Talipes equinovarus |
OMIM:613681 |
| Brachydactyly Type A4 |
|
Talipes equinovarus, Symphalangism affecting the phalanges of the hand, Short middle phalanx of t... |
ORPHA:93394 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... |
OMIM:615072 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Cleft palate, Recurrent patellar dislocation, Genu valgum, Macular coloboma, Coxa ... |
OMIM:216800 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia, Coxa valga |
OMIM:613618 |
| Arthrogryposis, Distal, Type 2B2 |
|
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... |
OMIM:618435 |
| Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
| Syndactyly Type 3 |
|
Short toe, Camptodactyly of finger, Finger syndactyly |
ORPHA:93404 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Erythema Of Acral Regions |
|
Abnormality of the dentition, Talipes equinovarus |
OMIM:227000 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... |
ORPHA:1891 |
| Microphthalmia With Limb Anomalies |
|
Cleft palate, Talipes equinovarus, Postnatal growth retardation, Toe syndactyly, Tibial bowing, H... |
OMIM:206920 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... |
OMIM:185750 |
| Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Short stature, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
| Mental Retardation, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
| Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Hand oligodactyly, Pierre-Robin sequence |
OMIM:172880 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
| Syndactyly Type 5 |
|
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... |
ORPHA:93406 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... |
OMIM:186350 |
| Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Arthrogryposis, Distal, Type 1B |
|
Contractures involving the joints of the feet, Talipes equinovarus, Rocker bottom foot, Joint con... |
OMIM:614335 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
| Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate, Split hand |
OMIM:129830 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Cutaneous syndactyly |
OMIM:616890 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Cleft palate, Pierre-Robin sequence, Tapered finger, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
| Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Hip dysplasia, Talipes equinovarus |
ORPHA:238578 |
| Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
| Multiple Synostoses Syndrome 3 |
|
Cleft palate, Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad t... |
OMIM:612961 |
| Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Narrow greater sciatic notch, Rhizomelia, Meta... |
OMIM:608940 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly |
OMIM:612576 |
| Eiken Syndrome |
|
Limited elbow flexion, Abnormal acetabulum morphology, Broad palm, Short stature, Narrow pelvis b... |
ORPHA:79106 |
| Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, High palate, Cleft palate, Retinal coloboma, Accessory oral frenulum, Microcephal... |
OMIM:258865 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Cleft palate, Talipes equinovarus, Short stature, Short humerus, Short femur, Irregular epiphyses... |
OMIM:601560 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Peters anomaly, Iris coloboma, Brachydactyly, Syndactyly, Coloboma, Clinodactyly,... |
OMIM:610023 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
| Split-Hand/Foot Malformation 1 |
|
Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad... |
OMIM:183600 |
| Pelvis-Shoulder Dysplasia |
|
Cleft palate, Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Microglossia, F... |
ORPHA:2839 |
| Leri-Weill Dyschondrosteosis |
|
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... |
OMIM:127300 |
| Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
| Wahab Syndrome |
|
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... |
OMIM:615170 |
| Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
| Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Small for gestational age, Talipes, Neonatal death, Microglossia, Fibular hypoplasi... |
OMIM:227270 |
| Palant Cleft Palate Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Exaggerated cupid's bow, Cle... |
OMIM:260150 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Small epiphyses, Micrognathia, Fragmented epiphyses, Short stature, Rhizomelia, Fibular hypoplasi... |
ORPHA:166016 |
| Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... |
OMIM:186550 |
| Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
| Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy |
OMIM:618220 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the ulna, Cleft palate, Hand oligodactyly, Glossoptosis, Abnormality of the dentit... |
ORPHA:3104 |
| Shox-Related Short Stature |
|
Micrognathia, Tibial bowing, High palate, Short stature, Lower limb undergrowth, Cubitus valgus, ... |
ORPHA:314795 |
| Osebold-Remondini Syndrome |
|
Tarsal synostosis, Short stature, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydacty... |
OMIM:112910 |
| Terminal Osseous Dysplasia |
|
Cleft palate, Mesomelic leg shortening, Abnormality of the lower limb, Abnormality of skin pigmen... |
OMIM:300244 |
| Acromesomelic Dysplasia 2C |
|
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... |
OMIM:201250 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Cleft palate, Intrauterine growth retardation, Microphthalmia, Rocker bottom foot, ... |
OMIM:616570 |
| Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Cleft palate, Talipes equinovarus, Short stature, Finger syndactyly, Synostosis ... |
ORPHA:1106 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Gombo Syndrome |
|
Microphthalmia, Radial deviation of finger, Microcephaly, Clinodactyly, Delayed puberty, Brachyda... |
OMIM:233270 |
| Lethal Faciocardiomelic Dysplasia |
|
Intrauterine growth retardation, Radial club hand, Microglossia, Fibular hypoplasia, Short 5th fi... |
ORPHA:1972 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... |
OMIM:226900 |
| Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot |
OMIM:225300 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... |
OMIM:605289 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... |
OMIM:246570 |
| Temtamy Syndrome |
|
Thick lower lip vermilion, Abnormal palate morphology, Micrognathia, Genu varum, Chorioretinal co... |
ORPHA:1777 |
| Otodental Syndrome |
|
Carious teeth, Lens coloboma, Pulp calcification, Microphthalmia, Retinal coloboma, Long philtrum... |
ORPHA:2791 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly |
ORPHA:71289 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Humero-Radial Synostosis |
|
Tarsal synostosis, Meningocele, Chorioretinal coloboma, Elbow ankylosis, Aplasia/Hypoplasia of th... |
ORPHA:3265 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma |
OMIM:616428 |
| Abruzzo-Erickson Syndrome |
|
Abnormal palate morphology, Toe syndactyly, Cleft palate, Chorioretinal coloboma, Ulnar deviation... |
ORPHA:921 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... |
OMIM:615990 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... |
OMIM:610202 |
| Brachydactyly, Type A2 |
|
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... |
OMIM:112600 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Or... |
OMIM:611638 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, Retina... |
OMIM:212550 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Long philtrum, Cleft ... |
ORPHA:2756 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Cousin Syndrome |
|
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... |
OMIM:260660 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... |
ORPHA:93356 |
| Blount Disease |
|
Tibial bowing, Abnormality of the knee, Osteochondrosis, Abnormality of the proximal tibial epiph... |
ORPHA:2768 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Median... |
DECIPHER:46 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Cleft palate, Split foot, Split hand |
OMIM:183700 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Bilateral cleft lip and palate, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior ... |
ORPHA:1473 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovarus, Short statur... |
OMIM:201170 |
| X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Talipes equinovarus |
ORPHA:85338 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... |
ORPHA:52056 |
| Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand polydactyly, Finger ... |
ORPHA:2935 |
| Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
| 5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Short philtrum, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Frontal co... |
ORPHA:228384 |
| Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Optic atrophy, Retinal degeneration, Short stature, Rh... |
OMIM:602271 |
| Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Polydactyly, Obesity, Rod-cone dystrophy, Syndactyly, Abnormality of the de... |
OMIM:615982 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Brachydactyly Type A7 |
|
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... |
ORPHA:93397 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Talipes equinovarus |
OMIM:181400 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... |
ORPHA:157801 |
| Hypomelanosis Of Ito |
|
Thick lower lip vermilion, Cerebral atrophy, Iris coloboma, Radial deviation of finger, Irregular... |
OMIM:300337 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
| Arthrogryposis, Distal, Type 1C |
|
Cleft palate, High palate, Adducted thumb, Talipes equinovarus, Rocker bottom foot, Shoulder flex... |
OMIM:619110 |
| Seckel Syndrome 1 |
|
Cleft palate, Pes planus, Abnormally large globe, 11 pairs of ribs, Postnatal growth retardation,... |
OMIM:210600 |
| Syndactyly, Type V |
|
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... |
OMIM:186300 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
| Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Cleft palate, Oligodontia, Cubitus valgus, Delayed eruption of teeth, Iris co... |
ORPHA:2712 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... |
OMIM:615631 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Chorioretinal coloboma, Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microc... |
OMIM:601706 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Lower limb asymmetry, Short stature, Fibular hypoplasia, Postaxial oligodactyly, ... |
OMIM:608571 |
| Langer Mesomelic Dysplasia |
|
Abnormality of the ulna, High palate, Ulnar deviation of finger, Abnormality of epiphysis morphol... |
ORPHA:2632 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Scapular winging, Pes cavus, High palate, Talipes equinovarus |
OMIM:617336 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
| Split-Hand/Foot Malformation 2 |
|
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot |
OMIM:313350 |
| Septooptic Dysplasia |
|
Polydactyly, Short stature, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis... |
OMIM:182230 |
| Aase-Smith Syndrome |
|
Cleft palate, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Slender finger, Camptodactyl... |
ORPHA:916 |
| Arthrogryposis, Distal, Type 7 |
|
Metatarsus adductus, Micrognathia, Talipes equinovarus, Hammertoe, Short stature, Deep philtrum, ... |
OMIM:158300 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Macular atrophy, Metaphyseal dysplasia, Cranial nerve compression |
OMIM:250450 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger |
OMIM:314360 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... |
ORPHA:137902 |
| Brachydactyly Type A1 |
|
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... |
ORPHA:93388 |
| Gordon Syndrome |
|
Cleft palate, High palate, Talipes, Finger syndactyly, Camptodactyly of finger, Clinodactyly of t... |
ORPHA:376 |
| Atelosteogenesis, Type Iii |
|
Knee dislocation, Tibial bowing, Radial bowing, Cleft palate, Talipes equinovarus, Micrognathia, ... |
OMIM:108721 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
| Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
| Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Hyperpigmented nevi, Cle... |
OMIM:607597 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Externally rotated hips, Overlapping fingers, Talipes equinovarus |
OMIM:616531 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Macular dystrophy, Rod-cone dystrophy, Syndactyly, Obesity, Brachydactyly |
OMIM:615983 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia |
OMIM:606713 |
| Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... |
OMIM:250215 |
| Kapur-Toriello Syndrome |
|
Cleft palate, Intrauterine growth retardation, Microphthalmia, Retinal coloboma, Cleft upper lip,... |
OMIM:244300 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
| Eiken Syndrome |
|
Short middle phalanx of finger, Short stature, Oligodontia, Pseudoepiphyses, Long hallux, Type A1... |
OMIM:600002 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Absent foveal reflex, Microcornea |
OMIM:615147 |
| Sprengel Deformity |
|
Shoulder muscle hypoplasia, Cleft palate, Abnormality of the shoulder girdle musculature, Abnorma... |
ORPHA:3181 |
| 14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Micrognathia, Short 5th metacarpal, Short stature, Anophthalmia, Finger syndactyl... |
ORPHA:264200 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
| Bresek Syndrome |
|
Aganglionic megacolon, Cleft palate, Intrauterine growth retardation, Microphthalmia, Optic nerve... |
ORPHA:85284 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
| Microphthalmia With Brain And Digit Anomalies |
|
High palate, Chorioretinal coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy, Anophthalmi... |
ORPHA:139471 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Cleft palate, Aplas... |
ORPHA:3320 |
| Weismann-Netter Syndrome |
|
Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormality of femur morphology, Bowing o... |
ORPHA:3344 |
| Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Abnormality of retinal pigmentation, Intrauterine growth retardation, Short ... |
ORPHA:2515 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Malar flattening, ... |
OMIM:118651 |
| Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Polydactyly, Small for gestational age, Stillbirth, Syndactyly, Upper limb phocomel... |
ORPHA:294975 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Knee dislocation, Recurrent patellar dislocation, Talipes equinovarus, Facial palsy, Intrinsic ha... |
ORPHA:178145 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Bardet-Biedl Syndrome 6 |
|
Polydactyly, Retinal dystrophy, Rod-cone dystrophy, Syndactyly, Obesity |
OMIM:605231 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... |
OMIM:609432 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short stature, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Thin vermilion border, Micro... |
OMIM:612447 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Cleft palate, Microphthalmia, Growth delay, Short philtrum, Small for gestational... |
ORPHA:1617 |
| Orofaciodigital Syndrome X |
|
Fibular aplasia, Cleft palate, Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand poly... |
OMIM:165590 |
| Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Epiphyseal dysplasia, Abnormal pelvis bone morphology, Short phalanx of finger, Fla... |
ORPHA:1427 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Smooth philtrum, High palate, Dental crowding, Pes planus, Macular degeneration, Thin upper lip v... |
OMIM:612948 |
| Eem Syndrome |
|
Carious teeth, Widely spaced teeth, Abnormality of retinal pigmentation, Microdontia, Macular dys... |
ORPHA:1897 |
| Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Micrognathia, Intrauterine growth retardation... |
ORPHA:1466 |
| Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Abnormal de... |
OMIM:601559 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split... |
ORPHA:3329 |
| Spastic Paraplegia 33, Autosomal Dominant |
|
Ankle clonus, Talipes equinovarus |
OMIM:610244 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Macular coloboma, Facial palsy, Retinal coloboma |
OMIM:107550 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus |
OMIM:276821 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
| Kahrizi Syndrome |
|
Thick lower lip vermilion, Knee flexion contracture, Iris coloboma, Cataract, Elbow flexion contr... |
OMIM:612713 |
| Blount Disease, Adolescent |
|
Osteochondritis Dissecans, Genu varum, Bowing of the legs |
OMIM:259200 |
| Ventriculomegaly And Arthrogryposis |
|
Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus |
OMIM:619501 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:608553 |
| Metaphyseal Dysplasia, Spahr Type |
|
Short lower limbs, Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Metaphyseal sclerosi... |
OMIM:250400 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, Limited elbow... |
OMIM:210720 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Neonatal death, Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius,... |
OMIM:601376 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Curry-Jones Syndrome |
|
Hypopigmented skin patches, Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Intesti... |
ORPHA:1553 |
| Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
| Hydrocephalus With Associated Malformations |
|
Short lower limbs, Abnormal foot morphology, Tibial bowing, Intrauterine growth retardation, Micr... |
OMIM:236640 |
| Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Knee flexion contracture, Iris coloboma, Cataract, Thick vermilion border, Elbow flexion contracture |
ORPHA:171860 |
| Squalene Synthase Deficiency |
|
2-3 toe syndactyly, Micrognathia, Intrauterine growth retardation, Failure to thrive in infancy, ... |
OMIM:618156 |
| Atelosteogenesis, Type I |
|
Cleft palate, Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, 11 pa... |
OMIM:108720 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Short stature, Short 2nd metacarpal, Aplasia/Hypoplasia of the thumb, Phocomelia, Mes... |
OMIM:171480 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... |
OMIM:223800 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... |
ORPHA:93409 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Decreased mobility 3rd-5th fingers, Radioulnar dislocation, Fibular hypoplasia, Ul... |
OMIM:164900 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Hypoplasia of the corpus callosum, Talipes equinovarus |
OMIM:613162 |
| Langer Mesomelic Dysplasia |
|
Mesomelic short stature, Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesom... |
OMIM:249700 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cleft palate, Talipes equinovarus, Short stature, Hamartoma of tongue, Short ribs, ... |
OMIM:613091 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Short stature, Abnormality of the elbow, Abnormality of the philtrum, Finger syndactyly, Abnormal... |
ORPHA:3268 |
| Nescav Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy, Talipes equinovarus, Cerebral atrophy, Microcephaly |
OMIM:614255 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Talipes equinovarus, Pes cavus, Proximal muscle weakness in upper limbs, Tongue fasciculations, S... |
OMIM:619216 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Radial bowing, Small epiphyses, Flared iliac wing... |
OMIM:602111 |
| Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Cleft palate, Short stature, Short metatarsal, Short ribs, Postnata... |
OMIM:304120 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
| Brachydactyly Type B2 |
|
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... |
ORPHA:140908 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Mesomelic Limb Shortening And Bowing |
|
Cleft palate, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodacty... |
OMIM:249710 |
| Metaphyseal Anadysplasia 2 |
|
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs |
OMIM:613073 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Iris coloboma |
OMIM:210350 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
| Brachydactyly Type B |
|
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... |
ORPHA:93383 |
| Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Fibular bowing, Growth delay, Enlargement of the wrists, Bowing of the legs, Failu... |
OMIM:600081 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... |
OMIM:300908 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, High, narrow palate, Cleft palate, Triphalangeal thumb, Synostosis of carpal b... |
ORPHA:957 |
| Cat-Eye Syndrome |
|
Intrauterine growth retardation, Chorioretinal coloboma, Microphthalmia, Anal atresia, Iris colob... |
ORPHA:195 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Disorganization, Mouse, Homolog Of |
|
Cleft palate, Cleft upper lip, Hip dislocation, Hand polydactyly, Limb duplication |
OMIM:223200 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, High palate, Short philtrum, Failure to thrive, Sandal gap, Abnorma... |
ORPHA:217340 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
| Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... |
ORPHA:2779 |
| Filippi Syndrome |
|
Optic atrophy, Hypodontia, Intrauterine growth retardation, Microdontia, Short philtrum, Thin ver... |
OMIM:272440 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect, Neutropenia, Lymphopenia |
OMIM:614868 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Mental Retardation, X-Linked 91 |
|
High palate, Cubitus valgus, Small hand, Short 5th finger, Short foot, Obesity, Clinodactyly, Mac... |
OMIM:300577 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Widely spaced teeth, Microdontia, Macular dystrophy, Joint contracture of the hand, Split hand, S... |
OMIM:225280 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation, Ankle clonus, Microcephaly |
OMIM:145290 |
| Oculoauricular Syndrome |
|
Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Iris coloboma, Macular hypoplasia, P... |
OMIM:612109 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Peripheral axonal neuropathy, Short stature, Hammertoe, Pigmentary retinopathy, Cerebral atrophy,... |
OMIM:619090 |
| Bardet-Biedl Syndrome 21 |
|
Hypodontia, Hypoplasia of the fovea, Obesity, Retinal thinning, Hyperautofluorescent macular lesi... |
OMIM:617406 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Tibial bowing, Fibular bowing, Bowing of the long bones, Metaphyseal irregularity, De... |
OMIM:600785 |
| Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Umbilical hernia, Abnormality of retinal pigmentation |
ORPHA:2196 |
| Stromme Syndrome |
|
Micrognathia, Cleft palate, Microphthalmia, Duodenal atresia, Wide mouth, Sclerocornea, Optic ner... |
OMIM:243605 |
| X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Micrognathia, Chorioretinal coloboma, Long philtrum, Optic nerve hypoplasia, Catar... |
ORPHA:163937 |
| Arthrogryposis, Distal, Type 2E |
|
Joint contractures involving the joints of the feet, Narrow mouth, Joint contracture of the hand,... |
OMIM:121070 |
| Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Postaxial polydactyly, Bone spicule pigmentation of the retin... |
OMIM:614500 |
| Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Overlapping fingers, Talipes equinovarus, Camptodactyly |
OMIM:618436 |
| Steinfeld Syndrome |
|
Microphthalmia, Median cleft lip and palate, Aplasia/Hypoplasia of the thumb, Retinal coloboma, P... |
OMIM:184705 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Hip osteoarthritis, Abnormal epiphysis morphology of the phala... |
OMIM:619248 |
| Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
| Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Rhizomelia, Phalangeal dislocation, Talipes equinovarus |
ORPHA:85174 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy, Talipes equinovarus, Hypoplasi... |
OMIM:615035 |
| Linear Verrucous Nevus Syndrome |
|
Dandy-Walker malformation, Toe syndactyly, Talipes, Genu recurvatum, Iris coloboma, Short metacar... |
ORPHA:2611 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cleft palate, Abnormality of the knee, Talipes equinovarus, Pierre-Robin sequence, Prominent calc... |
ORPHA:251028 |
| Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Retinal coloboma, Pes planus, Hypoplasia of the radius, Iris coloboma, Synda... |
OMIM:607323 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Metatarsus adductus, Cerebral atrophy, High palate, High, narrow palate, Short stature, Long phil... |
OMIM:612513 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Severe short stature... |
OMIM:112350 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Abnormality of the dentition, Microphthalmia, Retinal degeneration |
OMIM:251700 |
| Otopalatodigital Syndrome Type 2 |
|
Cleft palate, Pierre-Robin sequence, Oligodontia, Camptodactyly of finger, Cerebellar hypoplasia,... |
ORPHA:90652 |
| Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Growth delay, Morning glory anomaly, Microphthalmia, Optic disc coloboma,... |
OMIM:120200 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate, Short humerus |
OMIM:191000 |
| Boomerang Dysplasia |
|
Fibular aplasia, Neonatal death, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Talipes equinovarus |
OMIM:208100 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Arrhinencephaly, Hand oligodactyly, Intrauterine growth retardation, Talipes equinovarus, Aplasia... |
ORPHA:1788 |
| Bornholm Eye Disease |
|
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
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Premature graying of hair |
OMIM:190200 |
| Fanconi Anemia, Complementation Group I |
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Intrauterine growth retardation, Microphthalmia, Short stature, Optic nerve hypoplasia, Hypoplasi... |
OMIM:609053 |
| Cataract-Microcornea Syndrome |
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Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
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Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... |
OMIM:259270 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
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Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Short stature, Proximal placement of th... |
OMIM:268305 |
| Vitamin D-Dependent Rickets, Type 2A |
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Carious teeth, Tibial bowing, Fibular bowing, Growth delay, Subperiosteal bone resorption, Enlarg... |
OMIM:277440 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... |
OMIM:609945 |
| Tricho-Retino-Dento-Digital Syndrome |
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Abnormality of retinal pigmentation, Short 5th metacarpal, Oligodontia, Juvenile cataract, Supern... |
ORPHA:1264 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
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Micrognathia, High palate, Intrauterine growth retardation, Wide mouth, Short philtrum, Long fing... |
ORPHA:363686 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
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Short stature, Talipes equinovarus, Retinal dystrophy, Hip dislocation, Cerebral atrophy, Obesity... |
OMIM:616756 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
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Cleft palate, Microphthalmia, Retinal coloboma, Long philtrum, Deep philtrum, Inferior vermis hyp... |
OMIM:618571 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Tibial bowing, Fibular bowing, Growth delay, Subperiosteal bone resorption, Enlargement of the wr... |
OMIM:264700 |
| Spondylometaphyseal Dysplasia, East African Type |
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Genu varum, Metaphyseal widening, Rounded epiphyses, Disproportionate short-limb short stature, C... |
OMIM:611702 |
| Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
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Tibial bowing, High palate, Short stature, Deep philtrum, Pursed lips, Narrow mouth, Femoral bowi... |
OMIM:245160 |
| Coloboma Of Macula |
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Macular coloboma |
OMIM:120300 |
| Nephronophthisis 15 |
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Cerebellar vermis hypoplasia, Retinal degeneration, Polydactyly, Obesity |
OMIM:614845 |
| Diastrophic Dysplasia |
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Irregular epiphyses, Cleft palate, Talipes equinovarus, Short finger, Ulnar deviation of finger, ... |
OMIM:222600 |
| Desbuquois Dysplasia 1 |
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Monkey wrench femoral neck, Genu varum, Smooth philtrum, Talipes equinovarus, Short metatarsal, P... |
OMIM:251450 |
| Endove Syndrome, Limb-Only Type |
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Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... |
OMIM:619217 |
| Central Areolar Choroidal Dystrophy |
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Macular atrophy, Drusen, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Hyp... |
ORPHA:75377 |
| Hypophosphatemic Rickets, X-Linked Dominant |
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Tibial bowing, Fibular bowing, Short stature, Bowing of the legs, Enamel hypomineralization, Meta... |
OMIM:307800 |
| Phocomelia, Schinzel Type |
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Cleft palate, Hypoplasia of the radius, Aplasia/Hypoplasia involving the pelvis, Abnormality of t... |
ORPHA:2879 |
| Tibial Torsion, Bilateral Medial |
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Abnormality of tibia morphology, Tibial torsion, Bowing of the legs |
OMIM:188800 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Talipes equinovarus, Short stature, Deep palmar crease, Global brain atrophy, Cerebellar hypoplas... |
OMIM:301056 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
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Abnormal fundus morphology, Abnormal number of incisors, Patellar subluxation, Cerebral atrophy, ... |
ORPHA:2958 |
| Bardet-Biedl Syndrome 9 |
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Retinal degeneration, Polydactyly, Postaxial polydactyly, Bone spicule pigmentation of the retina... |
OMIM:615986 |
| Woolly Hair |
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Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
| Congenital Dyserythropoietic Anemia Type Iii |
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Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
| Fg Syndrome Type 1 |
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Pyloric stenosis, Short stature, Broad toe, Slender build, Pes planus, Finger syndactyly, Aplasia... |
ORPHA:93932 |
| Micro Syndrome |
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Optic atrophy, Micrognathia, High palate, Abnormality of retinal pigmentation, Short philtrum, In... |
ORPHA:2510 |
| Persistent Placoid Maculopathy |
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Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... |
ORPHA:97341 |
| Multiple Epiphyseal Dysplasia Type 4 |
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Flattened radial epiphyses, Upper limb undergrowth, Cleft palate, Talipes equinovarus, Short meta... |
ORPHA:93307 |
| Charlie M Syndrome |
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Triphalangeal thumb, Short philtrum, Thin vermilion border, Split hand, Finger syndactyly, Non-mi... |
ORPHA:1406 |
| Whim Syndrome 2 |
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Chronic neutropenia |
OMIM:619407 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Microphthalmia, Retinal dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microcephaly |
OMIM:615771 |
| Ulna And Fibula, Hypoplasia Of |
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Hypoplasia of the ulna, Disproportionate short-limb short stature, Fibular hypoplasia, Neonatal s... |
OMIM:191400 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Cerebral atrophy, Triangular mouth, Spindle-shaped finger, Short stature, Delayed epiphyseal ossi... |
ORPHA:166024 |
| Congenital Disorder Of Glycosylation, Type Id |
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Optic atrophy, High palate, Villous atrophy, Adducted thumb, Talipes equinovarus, Long fingers, B... |
OMIM:601110 |
| Fibrochondrogenesis 1 |
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Broad ischia, Cleft palate, Joint contracture of the hand, Short ribs, Camptodactyly, Short long ... |
OMIM:228520 |
| Jeune Syndrome |
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Toe syndactyly, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Short stature, Abnorm... |
ORPHA:474 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, R... |
ORPHA:231736 |
| Femur-Fibula-Ulna Complex |
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Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... |
ORPHA:2019 |
| Familial Drusen |
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Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Granula... |
ORPHA:75376 |
| Retinitis Pigmentosa 80 |
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Macular atrophy, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:617781 |
| Pelvis-Shoulder Dysplasia |
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Short clavicles, Microphthalmia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dis... |
OMIM:169550 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
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Cleft palate, High palate, Talipes equinovarus, Failure to thrive, Facial palsy, Camptodactyly of... |
OMIM:614399 |
| Campomelic Dysplasia |
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Shortening of all phalanges of the toes, Shortening of all phalanges of fingers, Cleft palate, Mi... |
OMIM:114290 |
| Joubert Syndrome With Ocular Defect |
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Aganglionic megacolon, Cleft palate, Retinal coloboma, Retinal dystrophy, Iris coloboma, Foot pol... |
ORPHA:220493 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Micrognathia, Peripheral axonal neuropathy, High palate, Rocker bottom foot, Talipes equinovarus,... |
OMIM:611890 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
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Micrognathia, Cleft palate, High palate, Abnormality of the elbow, Talipes equinovarus, Ulnar dev... |
ORPHA:93359 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Abnormality... |
OMIM:251270 |
| Aniridia-Intellectual Disability Syndrome |
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Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
| Albinism, Oculocutaneous, Type Iv |
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Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
| Grant Syndrome |
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Down-sloping shoulders, Micrognathia, Tibial bowing, Wormian bones |
OMIM:138930 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
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Upper limb amyotrophy, Talipes equinovarus |
ORPHA:99940 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Congenital bilateral hip dislocation, Short stature, Small for gestational age, Talipes equinovarus |
ORPHA:85288 |
| Temtamy Syndrome |
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Micrognathia, Chorioretinal coloboma, Short 2nd toe, Talipes equinovarus, Long philtrum, Ectopia ... |
OMIM:218340 |
| Eosinophilia, Familial |
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Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
| Immunodeficiency 50 |
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Neutropenia, Lymphopenia |
OMIM:300988 |
| Hypochondroplasia |
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Genu varum, Aplasia/hypoplasia of the extremities, Malar flattening, Limited elbow extension, Abn... |
OMIM:146000 |
| 2P15P16.1 Microdeletion Syndrome |
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Smooth philtrum, Pes planus, Toe clinodactyly, Camptodactyly of finger, Cerebellar hypoplasia, Hi... |
ORPHA:261349 |
| 19P13.13 Microdeletion Syndrome |
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Hypoplasia of the frontal lobes, Optic atrophy, Smooth philtrum, High palate, Macroglossia, Long ... |
ORPHA:357001 |
| Hypertrichosis, Anterior Cervical |
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Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
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Congenital, generalized hypertrichosis |
OMIM:145701 |
| Momo Syndrome |
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Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Retinal coloboma, Large h... |
OMIM:157980 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Tibial bowing, Fibular bowing, Growth delay, Enlargement of the wrists, Bowing of the legs, Failu... |
OMIM:241530 |
| Mulibrey Nanism |
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Pigmentary retinopathy, Hypodontia, Intrauterine growth retardation, Hypoplastic frontal sinuses,... |
OMIM:253250 |
| Ghosal Hematodiaphyseal Dysplasia |
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Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... |
ORPHA:1802 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Hypodontia, Cleft palate, Bifid uvula, Joint contracture of the hand, Split hand, ... |
OMIM:603543 |
| Macular Degeneration, Age-Related, 13 |
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Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Temtamy Preaxial Brachydactyly Syndrome |
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Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short stature, Oligodontia, Abnorma... |
ORPHA:363417 |
| Gluteal Muscles, Absence Of |
|
Optic nerve hypoplasia, Spina bifida occulta |
OMIM:231970 |
| Microphthalmia, Isolated 8 |
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Coloboma, Retinal detachment, Optic nerve hypoplasia, Microphthalmia |
OMIM:615113 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Talipes equinovarus, Long philtrum, Joint contracture of the hand, Camptodactyly, Small thenar em... |
OMIM:211960 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Short stature, Abnormality of the hand |
OMIM:245800 |
| Uncombable Hair Syndrome 3 |
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Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
| Prieto X-Linked Mental Retardation Syndrome |
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Talipes equinovarus, Patellar subluxation, Radial deviation of finger, 11 pairs of ribs, Patellar... |
OMIM:309610 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Short stature, Mild short stature, Optic nerve hypoplasia, Narrow mouth, Decrease... |
OMIM:614833 |
| Joubert Syndrome 22 |
|
2-3 toe syndactyly, Intrauterine growth retardation, Microphthalmia, Retinal dysplasia, Temporal ... |
OMIM:615665 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Short stature, Tapered finger, Optic disc hypoplasia, Optic nerve hypoplasia, Hypo... |
ORPHA:401777 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
