Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Increased bone mineral density, Abnormal hair quantity, Periapical tooth abscess, Do... |
ORPHA:3352 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Osteopetrosis, Autosomal Dominant 1 |
|
Mandibular pain, Osteopetrosis, Torus palatinus, Generalized osteosclerosis, Thickened calvaria, ... |
OMIM:607634 |
Eiken Syndrome |
|
Short philtrum, Multiple unerupted teeth, Midface retrusion, Thick lower lip vermilion, Long hall... |
OMIM:600002 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Delayed eruption of teeth, Cataract, Abnormal metaphysis morphology, Increased bone... |
ORPHA:2780 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te... |
OMIM:265900 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal ... |
OMIM:259710 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Abnormal metaphysis morphology, Craniofacial hyperostosis, Telecanthus |
ORPHA:1522 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Tooth agenesis, Craniosynostosis, Micrognathia, Brachydactyly, Rhizom... |
ORPHA:2645 |
Osteopetrosis, Autosomal Recessive 1 |
|
Coxa vara, Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Os... |
OMIM:259700 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... |
OMIM:611497 |
Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the third metatarsal bone, Joint stiffness, Sclerosis of foot bone, Thickened cort... |
ORPHA:564003 |
Trichodentoosseous Syndrome |
|
Taurodontia, Increased bone mineral density, Dolichocephaly, Fragile nails, Microdontia, Frontal ... |
OMIM:190320 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Osteoglophonic Dysplasia |
|
High palate, Broad phalanx, Craniosynostosis, Shallow orbits, Downslanted palpebral fissures, Rhi... |
OMIM:166250 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Discoid lupus rash, Joint stiffness, Sclerosis of foot bone, Inc... |
ORPHA:166119 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Downslanted palpebral fissures, Sandal gap, Bro... |
OMIM:311300 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Mandibular prognathia, Abnormal cortical bone morphology, Cranial hyp... |
ORPHA:3416 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Generalized osteosclerosis, Man... |
ORPHA:2790 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone morphology, Abnormal metaphysis mo... |
ORPHA:2779 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Short clavicles, Narrow mouth, Hypodontia, Reduced bone mineral density, Microg... |
OMIM:619322 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi... |
ORPHA:1802 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility |
OMIM:617442 |
Pallister W Syndrome |
|
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Frontal upsweep of hai... |
OMIM:311450 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival overgrowth, Ataxia, Cognitive impairment, Abnormality of the dentition, Delayed eruption... |
ORPHA:2026 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Fragmented, irregular ... |
ORPHA:566943 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Gómez-López-Hernández Syndrome |
|
Ataxia, Cognitive impairment, Thin vermilion border, Impaired pain sensation, Brachycephaly, Midf... |
ORPHA:1532 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... |
ORPHA:63442 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... |
ORPHA:90650 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Broad jaw, Bowing of the long bones, T... |
ORPHA:53697 |
W Syndrome |
|
Radial bowing, Abnormality of the scalp hair, Camptodactyly, Hypoplasia of the ulna, Downslanted ... |
ORPHA:2804 |
Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Alopecia, Osteoporosis, Carious teeth, Cataract,... |
OMIM:136300 |
Orofacial Cleft 15 |
|
Ectropion of lower eyelids, Sparse eyebrow, Sparse eyelashes, Upslanted palpebral fissure, Agenes... |
OMIM:616788 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
High palate, Obtuse angle of mandible, Wide anterior fontanel, Parietal bossing, Increased bone m... |
ORPHA:85184 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Sh... |
ORPHA:2501 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of the hand, Abn... |
ORPHA:2658 |
Trisomy 9P |
|
Hypoplastic toenails, Clinodactyly of the 5th finger, Abnormal pupil morphology, Impacted tooth, ... |
ORPHA:236 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Frontal bossing, Shallow orbits, Micrognathia |
OMIM:617306 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dislocated radial head, Dental malocclusion, Flat capital femoral epiphysis, Joint c... |
OMIM:612350 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Micrognathia, Brachyturricephaly, Osteoporosis, Dela... |
OMIM:613849 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft palate, Abnormality of canine, Tented upper lip vermilion, Agenesis of central incisor, Sho... |
ORPHA:364577 |
Ck Syndrome |
|
High palate, Slender build, Malar flattening, Upslanted palpebral fissure, Retrognathia, Microgna... |
OMIM:300831 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Frontal bossing, Failure to thrive |
OMIM:615085 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Clinodactyly of the 5th finger, Thick eyebrow, Tooth malposition, Malar flat... |
ORPHA:2769 |
Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru... |
OMIM:619489 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis, Broad jaw, Thickened calvaria, Brachycephaly |
ORPHA:178377 |
Trichorhinophalangeal Syndrome, Type I |
|
Sparse hair, Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Spars... |
OMIM:190350 |
Mohr Syndrome |
|
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the maxilla, Partial d... |
OMIM:252100 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Supernumerary tooth, Sparse hair, Oste... |
OMIM:190351 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Temple-Baraitser Syndrome |
|
High palate, Wide mouth, Short phalanx of the thumb, Delayed eruption of teeth, Long eyelashes, T... |
ORPHA:420561 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Cataract, Hemiatrophy of upper limb, Increased bone mi... |
ORPHA:163649 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Delayed eruption of teeth, Microcornea, Downs... |
OMIM:257850 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Cataract, Rocker bottom foot, Flexion contracture, Micr... |
OMIM:214150 |
Pseudopseudohypoparathyroidism |
|
Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Cataract, Obesity, Sho... |
OMIM:612463 |
Desmosterolosis |
|
Failure to thrive, Narrow mouth, Increased bone mineral density, Cleft palate, Osteopetrosis, Ret... |
ORPHA:35107 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Dentinogenesis imperfecta, Dolichocephaly, Upper limb undergrowth, Pathologic f... |
ORPHA:166277 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Multiple... |
OMIM:273050 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Cone-shaped epiphysis, Short philtrum, Delayed eruption of teeth, Oste... |
ORPHA:71267 |
Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... |
OMIM:612310 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Thin vermilion border, Thin calvarium, Osteopenia, Micrognathia, Brachydactyly, Dela... |
OMIM:601812 |
Frank-Ter Haar Syndrome |
|
Joint stiffness, Wide mouth, Clinodactyly of the 5th finger, Gingival overgrowth, Premature loss ... |
ORPHA:137834 |
Acrodysostosis |
|
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Delayed eruption of teeth, Hypoplasi... |
ORPHA:950 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Hypopigmentation of the skin, Hypopigmentation of hair, Epicanthus, Cafe-au-lait spot |
OMIM:618541 |
Elsahy-Waters Syndrome |
|
High palate, Impacted tooth, Megalocornea, Delayed eruption of teeth, Downslanted palpebral fissu... |
OMIM:211380 |
Grant Syndrome |
|
Abnormal palate morphology, Open bite, Abnormality of the glenoid fossa, Micrognathia, Joint hype... |
ORPHA:2097 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of femur morphology, Plagiocephaly, Tooth agenesis, Narrow palate, Micrognathia, Abno... |
ORPHA:2063 |
48,Xxyy Syndrome |
|
Ataxia, Taurodontia, Cleft palate, Open bite, Depression, Anxiety, Delayed eruption of teeth, Car... |
ORPHA:10 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
Momo Syndrome |
|
High palate, Short sternum, Hyperconvex nail, Femoral bowing, Delayed eruption of teeth, Large fo... |
ORPHA:2563 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Delayed ossification of ... |
OMIM:184260 |
Non-Distal Trisomy 10Q |
|
High palate, Cognitive impairment, Everted lower lip vermilion, Micrognathia, Frontal bossing, Br... |
ORPHA:1695 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Microcornea, Mandibular prognathia, Midface retrusion, Short distal phalanx of finge... |
ORPHA:1327 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Tapered finger, ... |
ORPHA:970 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... |
OMIM:313500 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Failure to thrive, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndact... |
ORPHA:476126 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Wide mouth, Posterior plagiocephaly, Slender finger, Sparse hair, Short fourth metatarsal, Sparse... |
OMIM:619841 |
Ramon Syndrome |
|
Failure to thrive, Generalized hirsutism, Narrow palate, Abnormality of retinal pigmentation, Del... |
ORPHA:3019 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod... |
OMIM:618342 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Mandibular pain, Abnormality of finger, Osteomyelitis, Abnormal ... |
ORPHA:73 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbo... |
ORPHA:1423 |
Clark-Baraitser Syndrome |
|
High palate, Wide mouth, Brachycephaly, Hyperactivity, Dolichocephaly, Short philtrum, Anxiety, L... |
OMIM:617752 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Flared metaphysis, Oligodontia,... |
OMIM:601668 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... |
OMIM:618363 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Ataxia, Self-injurious behavior, Hyperactivity, Malar flattening, Cognitive impairme... |
OMIM:601853 |
Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Abn... |
ORPHA:53 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Tooth agenesis, Cognitive impairment, Short philtrum, Delayed eruption of teeth, Mandibular progn... |
ORPHA:2325 |
Pycnodysostosis |
|
Narrow palate, Persistence of primary teeth, Increased bone mineral density, Hypodontia, Microgna... |
OMIM:265800 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, Thin bony cortex, Hypoplasia of ... |
OMIM:259600 |
Rothmund-Thomson Syndrome |
|
Sparse hair, Sparse eyebrow, Osteopenia, Abnormality of the dentition, Delayed eruption of teeth,... |
ORPHA:2909 |
Craniometadiaphyseal Dysplasia |
|
High palate, Sclerosis of skull base, Wide anterior fontanel, Malar flattening, Osteopenia, Flare... |
OMIM:269300 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Abnormality of hair texture, Otitis media, Craniosynostosis, Osteopetrosis, ... |
ORPHA:667 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Recurrent fractures, Eczematoid dermatitis, Persistence of primary teeth, Skin rash,... |
OMIM:147060 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Osteopetrosis, Autosomal Recessive 5 |
|
Gingival overgrowth, Stillbirth, Increased bone mineral density, Decreased osteoclast count, Oste... |
OMIM:259720 |
Aredyld Syndrome |
|
Abnormal dental enamel morphology, Narrow mouth, Upslanted palpebral fissure, Sparse body hair, C... |
ORPHA:1133 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Dental malocclusion, Osteosclerosis of th... |
ORPHA:210110 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Dental malocclusion, Diaphyseal sclerosis, Cranial hyperostosis |
OMIM:259730 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Malar flattening, Micrognathia, Flared metaphysis, Microme... |
OMIM:215045 |
Metatropic Dysplasia |
|
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... |
ORPHA:2635 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Agenesis of molar, Supernumerary tooth, Anterior plagiocephaly, Anxiety, Diastema, Microdontia, B... |
OMIM:619718 |
Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Progressiv... |
OMIM:224300 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... |
ORPHA:1306 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
4H Leukodystrophy |
|
Ataxia, Hypodontia, Dysmetria, Mental deterioration, Abnormality of the dentition, Dysdiadochokin... |
ORPHA:289494 |
48,Xxxy Syndrome |
|
Taurodontia, Irritability, Cleft palate, Abnormal social behavior, Open bite, Anxiety, Abnormal a... |
ORPHA:96263 |
Muenke Syndrome |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Thimble-shaped middle phalanges ... |
OMIM:602849 |
Cranioectodermal Dysplasia |
|
Sparse hair, Craniosynostosis, Abnormality of the dentition, Microdontia, Rhizomelia, Abnormal to... |
ORPHA:1515 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Brachydactyly, Sy... |
ORPHA:3238 |
Proteus Syndrome |
|
Ptosis, Calvarial hyperostosis, Dolichocephaly, Limbal dermoid, Thin bony cortex, Depigmentation/... |
OMIM:176920 |
Gapo Syndrome |
|
Nail dysplasia, Eruption failure, Wide anterior fontanel, High, narrow palate, Sparse hair, Spars... |
OMIM:230740 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... |
ORPHA:2751 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Metaphyseal widening |
OMIM:618476 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Mandibular prognathia, Cra... |
OMIM:122860 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Patchy sclerosis of finger phalanx, Flared metaphysis, Club-shaped distal ... |
OMIM:218400 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... |
OMIM:118651 |
Familial Expansile Osteolysis |
|
Premature loss of teeth, Fragile teeth, Pathologic fracture, Thin bony cortex, Osteolysis, Bowing... |
OMIM:174810 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Clinodactyly of the 5th finger, Low anterior hairline, Small for gestational a... |
ORPHA:73272 |
Singleton-Merten Syndrome 1 |
|
Expanded metacarpals with widened medullary cavities, Osteopenia, Carious teeth, Osteolytic defec... |
OMIM:182250 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent tee... |
OMIM:112350 |
Hall-Riggs Syndrome |
|
Wide mouth, Joint stiffness, Failure to thrive, Coarse hair, Brachydactyly, Delayed eruption of t... |
ORPHA:2107 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Decreased body weight, Increased bone mineral density, Arachnodactyly, Th... |
OMIM:614856 |
Hutchinson-Gilford Progeria Syndrome |
|
High palate, Corneal ulceration, Limitation of movement at ankles, Impacted tooth, Shallow orbits... |
ORPHA:740 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Slender build, Self-injurious behavior, Aggressive behavior, Limb tremor, Brachycephaly |
OMIM:300699 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Sparse hair, Sparse eyebrow, Alopecia, Congenital hip dislocation, Delayed eruption ... |
OMIM:268400 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Frag... |
ORPHA:2228 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... |
OMIM:144750 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Diastrophic Dysplasia |
|
Joint stiffness, Increased bone mineral density, Cleft palate, Micrognathia, Hip dysplasia, Campt... |
ORPHA:628 |
Brachydactyly, Type E1 |
|
Short clavicles, Brachydactyly, Type E brachydactyly, Multiple impacted teeth, Short metatarsal, ... |
OMIM:113300 |
Craniosynostosis 2 |
|
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Tripha... |
OMIM:604757 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Subcutaneous ossification, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Ena... |
OMIM:103580 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth |
OMIM:183300 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
No social interaction, Frontal bossing, Brachycephaly, Dystonia, Irritability |
OMIM:264470 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Hip contracture, Wide anterior fontanel, Cleft palate, Malar fla... |
OMIM:601561 |
Hypochondroplasia |
|
Malar flattening, Flared metaphysis, Brachydactyly, Genu varum, Limited elbow extension, Frontal ... |
OMIM:146000 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Sparse hair, Coarse hair, Delayed eruption of teeth, Microdontia, Cariou... |
ORPHA:50814 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Micrognathia, Brachycephaly, Trigonocephaly |
OMIM:275595 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Camptodactyly, Epicant... |
OMIM:618761 |
Dysosteosclerosis |
|
Abnormal dental enamel morphology, Recurrent fractures, Increased bone mineral density, Delayed e... |
ORPHA:1782 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis |
OMIM:600252 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Slender long bone, ... |
OMIM:619795 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Recurrent skin infections |
OMIM:612840 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, H... |
ORPHA:93296 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Wide mouth, Pain insensitivity, Long philtrum, Delayed eruption of teeth, Frontal bo... |
OMIM:618825 |
Hallermann-Streiff Syndrome |
|
High palate, Sparse hair, Sparse eyebrow, Thin calvarium, Downslanted palpebral fissures, Catarac... |
OMIM:234100 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Flattened proximal rad... |
OMIM:271530 |
Dysostosis, Stanescu Type |
|
Tooth agenesis, Increased bone mineral density, Massively thickened long bone cortices, Macroglos... |
ORPHA:1798 |
Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Short clavicles, Bowing of the legs, Gingival overgrowth, Hirsu... |
ORPHA:313855 |
2Q32Q33 Microdeletion Syndrome |
|
High palate, Conspicuously happy disposition, Narrow mouth, Cleft palate, Thin vermilion border, ... |
ORPHA:251019 |
Acrocraniofacial Dysostosis |
|
Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Advanced eruption of teeth,... |
ORPHA:949 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:600081 |
Dysplastic Cortical Hyperostosis |
|
Limb undergrowth, Abnormal cortical bone morphology, Abnormality of limb bone morphology, Increas... |
ORPHA:2204 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... |
ORPHA:289157 |
Pyknoachondrogenesis |
|
Stillbirth, Increased bone mineral density |
OMIM:265880 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Eczema, Mottled pigmentation, Deviation of finger, Abnormality o... |
ORPHA:1525 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly, No social interaction, Aggressive behavior |
OMIM:309530 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Delayed eruption of primary teeth, Corneal dystrophy, Failur... |
OMIM:180900 |
49,Xxxxy Syndrome |
|
Overfriendliness, Taurodontia, Irritability, Cleft palate, Open bite, Delayed eruption of teeth, ... |
ORPHA:96264 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Finger joint hypermobility, Generalized hypoplasia o... |
ORPHA:49042 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Micromelia, Delayed eruption of t... |
ORPHA:166272 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Microcornea, Sagittal cranio... |
OMIM:201000 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Narrow mouth, Inability to walk, Malar flattening, Depression, Anxiety, Gait a... |
DECIPHER:45 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Cleft palate, Facial hypertrichosis, Downslanted palpebral fissures, Gen... |
ORPHA:3473 |
Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Gingival f... |
OMIM:228560 |
Smith-Magenis Syndrome |
|
Cleft upper lip, Taurodontia, Self-injurious behavior, Cleft palate, Micrognathia, Short philtrum... |
ORPHA:819 |
Hypertrichosis Lanuginosa Congenita |
|
Gingival overgrowth, Generalized hirsutism, Thick eyebrow, Abnormality of the dentition, Delayed ... |
ORPHA:2222 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Carpal synostosis, Clinodactyly of the 5th finger, Coxa vara, Abnormality o... |
OMIM:272460 |
Adenylosuccinase Deficiency |
|
Wide mouth, Happy demeanor, Inability to walk, Poor eye contact, Hyperactivity, Opisthotonus, Sel... |
OMIM:103050 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... |
ORPHA:2972 |
Aarskog-Scott Syndrome |
|
Cleft palate, Abnormality of the dentition, Megalocornea, Delayed eruption of teeth, Downslanted ... |
ORPHA:915 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Recurrent fractures |
OMIM:611490 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Delayed eruption of... |
ORPHA:2025 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Blue irides, Calvarial hyperostosis, Delayed ... |
OMIM:101800 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... |
OMIM:305620 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Short distal phalanx of finger, Sparse hair, Everted lower lip vermilion, Sparse body hair, Aplas... |
ORPHA:181 |
Diastrophic Dysplasia |
|
Hip contracture, Talipes equinovarus, Cleft palate, Small for gestational age, Costal cartilage c... |
OMIM:222600 |
Oculofaciocardiodental Syndrome |
|
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Microcornea, Radioulnar sy... |
ORPHA:2712 |
Short Syndrome |
|
Dental malocclusion, Hypodontia, Small for gestational age, Micrognathia, Megalocornea, Delayed e... |
OMIM:269880 |
Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Broad finger, Delayed eruption of teeth, Tapered finger, Advanced erupti... |
ORPHA:192 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Rothmund-Thomson Syndrome Type 2 |
|
High palate, Sparse hair, Cleft palate, Metaphyseal sclerosis, Osteopenia, Abnormality of the den... |
ORPHA:221016 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Dental crowding, Hypertrichosis, Talipes equinovarus, Short palpebral fissure, Macro... |
OMIM:616354 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,... |
OMIM:141300 |
Acrocraniofacial Dysostosis |
|
Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Micrognathia, Downslanted p... |
OMIM:201050 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Sparse hair, Abnormal soft palate morphology, Everted lower lip vermil... |
ORPHA:884 |
Melorheostosis |
|
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... |
ORPHA:2485 |
Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Flat occiput, Thin upper lip vermilion, Brachycephaly, Smooth philtrum |
ORPHA:46 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Brachydactyly, Delayed erupti... |
ORPHA:2863 |
Gapo Syndrome |
|
Abnormal palate morphology, Hypopigmented skin patches, Sparse eyebrow, Everted lower lip vermili... |
ORPHA:2067 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... |
OMIM:268305 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
Osteopetrosis With Renal Tubular Acidosis |
|
High palate, Recurrent fractures, Plagiocephaly, Narrow mouth, Persistence of primary teeth, Toot... |
ORPHA:2785 |
Craniofrontonasal Dysplasia |
|
High palate, Abnormality of hair texture, Craniosynostosis, Abnormality of the dentition, Down-sl... |
ORPHA:1520 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Hallermann-Streiff Syndrome |
|
Abnormality of the tongue, Abnormality of hair texture, Sparse hair, Sparse eyebrow, Alopecia, Ab... |
ORPHA:2108 |
Rothmund-Thomson Syndrome Type 1 |
|
Sparse hair, Metaphyseal sclerosis, Osteopenia, Abnormality of the dentition, Sparse or absent ey... |
ORPHA:221008 |
Pitt-Hopkins Syndrome |
|
Abnormal palate morphology, Wide mouth, Failure to thrive, Tooth malposition, Supernumerary nippl... |
ORPHA:2896 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Oligodontia, Natal tooth, Hypopl... |
OMIM:601345 |
Coffin-Siris Syndrome 2 |
|
High palate, Wide mouth, Cleft palate, Short philtrum, Delayed eruption of teeth, Long eyelashes,... |
OMIM:614607 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Sparse hair, Cleft palate, Osteopenia, Coarse hair, Delayed eruption of ... |
OMIM:607812 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
2Q23.1 Microdeletion Syndrome |
|
Ataxia, Self-injurious behavior, Hyperactivity, Malar flattening, Everted lower lip vermilion, Ma... |
ORPHA:228402 |
Smith-Magenis Syndrome |
|
Head-banging, Velopharyngeal insufficiency, Hyperactivity, Malar flattening, Self-mutilation, Abn... |
OMIM:182290 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia, Ataxia |
OMIM:615905 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Wide mouth, Mandibular prognathia, Brachycephaly, Thick lower lip verm... |
OMIM:309545 |
Pseudohypoparathyroidism, Type Ic |
|
Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Cataract, Obesity, Sho... |
OMIM:612462 |
Acrofacial Dysostosis, Palagonia Type |
|
Pili torti, Low anterior hairline, Supernumerary tooth, High, narrow palate, Malar flattening, Sp... |
ORPHA:1787 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Short distal phalanx of finger, High palate, Clinodactyly of the 5th finger, Supernumerary tooth,... |
ORPHA:77258 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Syndactyly, Type B brachydactyly, Aplasia/... |
OMIM:113000 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Dislocation of the femoral head, Hyperextensibility of the finger joints, Frontal upsweep of hair... |
OMIM:619797 |
Raine Syndrome |
|
High palate, Wide mouth, Cleft palate, Brachyturricephaly, Micromelia, Microdontia, Downslanted p... |
OMIM:259775 |
Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Enamel hypoplasi... |
ORPHA:94089 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Oligodontia, Taurodontia |
OMIM:272980 |
Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Widely-spa... |
OMIM:300602 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Failure to thriv... |
OMIM:264475 |
Osteopoikilosis And Dacryocystitis |
|
Dacryocystitis, Osteopoikilosis |
OMIM:166705 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Ataxia, Brachycephaly |
ORPHA:404493 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Poor eye contact, High, narrow palate, Abnormal social behavior, Micrognathia, Anxiety, Attention... |
ORPHA:444002 |
Acrofacial Dysostosis, Weyers Type |
|
Hypoplastic toenails, Clinodactyly of the 5th finger, Hypodontia, Toenail dysplasia, Small hand, ... |
ORPHA:952 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin bony cortex, Hypoplasia of ... |
ORPHA:75508 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Char Syndrome |
|
No permanent dentition, Ptosis, Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, Trian... |
ORPHA:46627 |
Hereditary Geniospasm |
|
Abnormality of lower lip, Abnormal social behavior |
ORPHA:53372 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Slender build, Pain insensitivity, Narrow palate, Macrodontia of permanent maxillary central inci... |
ORPHA:364028 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Brachycephaly, Ataxia, Plagiocephaly, Hyperactivity, Anxiety, Downturned corners of mouth, Fronta... |
OMIM:618430 |
Codas Syndrome |
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Congenital hip dislocation, Brachydactyly, Joint hyperflexibility, Delayed eruption of teeth, Epi... |
ORPHA:1458 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Oculodentodigital Dysplasia |
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Sparse hair, Cleft palate, Microcornea, Carious teeth, Cataract, Slow-growing hair, Mandibular pr... |
ORPHA:2710 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
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High palate, Narrow mouth, Decreased body weight, Poor eye contact, Ataxia, Malar flattening, Ina... |
OMIM:300260 |
Filippi Syndrome |
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Hypertrichosis, Decreased body weight, Hypodontia, Sparse hair, Thin vermilion border, Cutaneous ... |
OMIM:272440 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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High palate, Narrow mouth, Brachycephaly, Retrognathia |
ORPHA:2528 |
Incisors, Lower Central, Absence Of |
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Agenesis of mandibular central incisor |
OMIM:147330 |
Spondylometaphyseal Dysplasia, East African Type |
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Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
Central Incisors, Absence Of |
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Agenesis of central incisor |
OMIM:302400 |
Cleidocranial Dysplasia 1 |
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High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Midface retrusion,... |
OMIM:119600 |
Chime Syndrome |
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Sparse hair, Cleft palate, Abnormality of the dentition, Short philtrum, Microdontia, Abnormal ep... |
ORPHA:3474 |
Osteopetrosis, Autosomal Recessive 7 |
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Osteopetrosis, Recurrent pneumonia, Abnormal trabecular bone morphology, Femur fracture |
OMIM:612301 |
Coffin-Siris Syndrome 10 |
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Epicanthus, Wide mouth, Persistence of primary teeth, Clinodactyly |
OMIM:618506 |
Tooth Agenesis, Selective, 3 |
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Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar |
OMIM:604625 |
Spondyloepiphyseal Dysplasia Tarda |
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Abnormally ossified vertebrae, Arthralgia of the hip, Abnormal cartilage morphology, Premature os... |
ORPHA:93284 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Cleft upper lip, Broad-based gait, Decreased body weight, Hyperactivity, Cleft palate, Bifid uvul... |
OMIM:300958 |
Bloom Syndrome |
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Hypertrichosis, Clinodactyly of the 5th finger, Malar flattening, Small for gestational age, Doli... |
OMIM:210900 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Acrootoocular Syndrome |
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Cutaneous syndactyly, Delayed eruption of teeth, Downslanted palpebral fissures, Sandal gap, High... |
ORPHA:2980 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Overfriendliness, Wide mouth, High palate, Ataxia, Hyperactivity, Plagiocephaly, Macroglossia, Do... |
ORPHA:369891 |
Muenke Syndrome |
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Carpal synostosis, Plagiocephaly, Hypermelanotic macule, High, narrow palate, Malar flattening, C... |
ORPHA:53271 |
Atkin-Flaitz Syndrome |
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Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Widely-spa... |
OMIM:300431 |
Carabelli Anomaly Of Maxillary Molar Teeth |
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Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
Cornelia De Lange Syndrome 2 |
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High palate, Brachycephaly, Cognitive impairment, Micrognathia, Downturned corners of mouth, Thin... |
OMIM:300590 |
Greenberg Dysplasia |
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Calvarial skull defect, Anterior rib punctate calcifications, Abnormal bone ossification, Abnorma... |
ORPHA:1426 |
Pierpont Syndrome |
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Failure to thrive, Decreased body weight, Prominent median palatal raphe, Long upper lip, Everted... |
OMIM:602342 |
Osteosclerotic Metaphyseal Dysplasia |
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Metaphyseal dysplasia, Clavicular sclerosis |
OMIM:615198 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
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Wide mouth, Narrow mouth, Hyperactivity, Small for gestational age, Micrognathia, Short philtrum,... |
OMIM:615834 |
Dentin Dysplasia With Sclerotic Bones |
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Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Temtamy Preaxial Brachydactyly Syndrome |
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Carpal synostosis, Plagiocephaly, Cleft palate, Talon cusp, Brachydactyly, Syndactyly, Microdonti... |
OMIM:605282 |
Tricho-Retino-Dento-Digital Syndrome |
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Abnormality of retinal pigmentation, Supernumerary tooth, Sparse hair, Abnormality of the dentiti... |
ORPHA:1264 |
Chromosome 2Q37 Deletion Syndrome |
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Pain insensitivity, Hyperactivity, Self-injurious behavior, Malar flattening, Aggressive behavior... |
OMIM:600430 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:241530 |
Lethal Congenital Contracture Syndrome Type 1 |
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Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Slender long bone, Abnormal cort... |
ORPHA:1486 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnor... |
ORPHA:363417 |
Weismann-Netter Syndrome |
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Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Chromosome 5P13 Duplication Syndrome |
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High palate, Brachycephaly, Sparse hair, Short palpebral fissure, Craniosynostosis, Small for ges... |
OMIM:613174 |
Sponastrime Dysplasia |
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Microdontia, Hypoplasia of the nasal bone, Genu valgum, Rhizomelia, Hip subluxation, Small epiphy... |
ORPHA:93357 |
X-Linked Hypophosphatemia |
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Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
Autosomal Dominant Hyper-Ige Syndrome |
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Recurrent fractures, Osteomyelitis, Skin rash, Craniosynostosis, Cleft palate, Osteopenia, Eczema... |
ORPHA:2314 |
Pierpont Syndrome |
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Short toe, Long upper lip, Prominent fingertip pads, Everted lower lip vermilion, Thin vermilion ... |
ORPHA:487825 |
Teebi Hypertelorism Syndrome 2 |
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High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Thick eyebrow, Cleft palate,... |
OMIM:619736 |
Desanto-Shinawi Syndrome |
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Brachycephaly, Anxiety, Downturned corners of mouth, Attention deficit hyperactivity disorder, Ag... |
OMIM:616708 |
Peters-Plus Syndrome |
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Cleft palate, Craniosynostosis, Facial hypertrichosis, Square pelvis bone, Rhizomelia, Hypoplasia... |
OMIM:261540 |
Apert Syndrome |
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Cleft palate, Craniosynostosis, Cutaneous syndactyly, Brachyturricephaly, Shallow orbits, Delayed... |
OMIM:101200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
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Dysmetria, Gait ataxia, Dental crowding, Spastic gait, Brachycephaly |
OMIM:615031 |
Coffin-Siris Syndrome 3 |
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Sparse scalp hair, Wide mouth, Hypertrichosis, Hirsutism, Thick eyebrow, Sparse hair, Macroglossi... |
OMIM:614608 |
Craniosynostosis, Herrmann-Opitz Type |
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Malar flattening, Craniosynostosis, Cleft palate, Micrognathia, Cognitive impairment, Brachycepha... |
ORPHA:2145 |
3M Syndrome |
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Clinodactyly of the 5th finger, Thick eyebrow, Everted lower lip vermilion, Dolichocephaly, Conge... |
ORPHA:2616 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Failure to thrive, Ataxia, Inability to walk, Progressive neurologic deterioration, Chorea, Brach... |
ORPHA:70472 |
Odontotrichoungual-Digital-Palmar Syndrome |
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Short distal phalanx of finger, Dental malocclusion, Nail dysplasia, Abnormality of hair texture,... |
OMIM:601957 |
Incontinentia Pigmenti |
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Keratitis, Alopecia, Delayed eruption of teeth, Abnormal hand morphology, Uveitis, Osteolysis, Ca... |
ORPHA:464 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
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Dental crowding, Brachycephaly, Gait ataxia, Dysmetria |
ORPHA:320385 |
Momo Syndrome |
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High palate, Dental malocclusion, Taurodontia, Short sternum, Hyperconvex nail, Long philtrum, De... |
OMIM:157980 |
Caffey Disease |
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Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... |
ORPHA:1310 |
Cole-Carpenter Syndrome |
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Recurrent fractures, Micrognathia, Joint hyperflexibility, Delayed eruption of teeth, Downslanted... |
ORPHA:2050 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
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Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Ovarian Dysgenesis 3 |
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Female infertility, Primary amenorrhea |
OMIM:614324 |
Cornelia De Lange Syndrome 5 |
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High palate, Happy demeanor, Cleft palate, Retrognathia, Micrognathia, Thin vermilion border, Lon... |
OMIM:300882 |
Laron Syndrome |
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Short toe, Tooth agenesis, Micrognathia, Osteoarthritis, Brachydactyly, Delayed eruption of teeth... |
ORPHA:633 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
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Wide mouth, Impaired social interactions, Brachycephaly, Aggressive behavior |
OMIM:616083 |
Impacted Teeth, Multiple |
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Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Majeed Syndrome |
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Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin,... |
ORPHA:77297 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... |
ORPHA:93346 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
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Wide mouth, Brachycephaly, Poor eye contact, Micrognathia, Thin upper lip vermilion, Smooth philtrum |
OMIM:615419 |
Craniosynostosis And Dental Anomalies |
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High palate, Delayed eruption of teeth, Fingernail dysplasia, Broad hallux, Downslanted palpebral... |
OMIM:614188 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Narrow mouth, Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cereb... |
ORPHA:314647 |
X-Linked Non-Syndromic Intellectual Disability |
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2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Small for gestational age,... |
ORPHA:777 |
Lowry-Maclean Syndrome |
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Corneal opacity, High, narrow palate, Cleft palate, Craniosynostosis, Retrognathia, Osteopenia, M... |
ORPHA:2409 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
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Advanced ossification of carpal bones, Limitation of joint mobility, Hirsutism, Joint contracture... |
OMIM:224400 |
Osteosclerosis With Ichthyosis And Fractures |
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Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxil... |
ORPHA:2776 |
Amelogenesis Imperfecta, Type Ic |
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Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
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Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Chand Syndrome |
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Agenesis of maxillary incisor, Short fifth metatarsal, Nail dysplasia, Ankyloblepharon, Cleft pal... |
ORPHA:1401 |
Fryns Macrocephaly |
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Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
Helsmoortel-Van Der Aa Syndrome |
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Wide mouth, Everted lower lip vermilion, Small hand, Long philtrum, Advanced eruption of teeth, D... |
OMIM:615873 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
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Decreased body weight, Small for gestational age, Hypoplasia of the maxilla, Mandibular prognathi... |
ORPHA:93950 |
Stickler Syndrome |
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Cleft palate, Advanced eruption of teeth, Genu valgum, Abnormal epiphysis morphology, Uveitis, Hy... |
ORPHA:828 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density, Diaphyseal dysplasia |
OMIM:231095 |
Otopalatodigital Syndrome Type 2 |
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Cleft palate, Downslanted palpebral fissures, Cataract, Bowing of the long bones, Carpal synostos... |
ORPHA:90652 |
Marshall Syndrome |
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Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... |
OMIM:154780 |
Autosomal Recessive Hypophosphatemic Rickets |
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Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Hypophosphatemic ric... |
ORPHA:289176 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide mouth, Sparse eyebrow, Short philtrum, Microdontia, Tapered finger, Long eyelashes, Aplastic... |
OMIM:619293 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Narrow mouth, Short metacarpal, Cone-shaped epiphysis, Long ph... |
OMIM:102370 |
Teebi Hypertelorism Syndrome 1 |
|
Upslanted palpebral fissure, Coronal craniosynostosis, Micrognathia, Small hand, Long philtrum, D... |
OMIM:145420 |
Blomstrand Lethal Chondrodysplasia |
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Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Malar flattening... |
ORPHA:50945 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Wide anterior fontanel, Ulnar deviation of the hand, Flexion contracture, Narrow greater sciatic ... |
OMIM:263210 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
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Hip contracture, Plagiocephaly, Osteopenia, Short philtrum, Cachexia, Tapered finger, Downslanted... |
OMIM:616801 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Decreased body weight, Joint contracture of the hand, Cleft palate, Arachnodactyly, ... |
OMIM:600325 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Ataxia, Hypodontia, Dysmetria, Impaired vibration sensation in the lower limbs, Intention tremor,... |
ORPHA:447896 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Atopic dermatitis, Congenital hip dislocation, Limited elbow extension, Inci... |
OMIM:619719 |
Chst3-Related Skeletal Dysplasia |
|
Flexion contracture, Sparse eyebrow, Brachydactyly, Irregular epiphyses, Delayed eruption of teet... |
ORPHA:263463 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
Summitt Syndrome |
|
Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Brachyd... |
ORPHA:3210 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... |
OMIM:170390 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Cleft palate, Advanced eruption of teeth, Tapered finger, Ulnar deviation of finger, Fingernail d... |
ORPHA:2215 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Failure to thrive, Brachycephaly, Chorea, Athetosis |
OMIM:309541 |
Angelman Syndrome |
|
Broad-based gait, Wide mouth, Hyperactivity, Macroglossia, Widely spaced teeth, Flat occiput, Pro... |
OMIM:105830 |
Beck-Fahrner Syndrome |
|
High palate, Brachycephaly, Depression, Anxiety, Long philtrum, Attention deficit hyperactivity d... |
OMIM:618798 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Downturned corners of mouth, Deep philtrum, Brachycephaly, Inappropriate laughter |
OMIM:618859 |
Pachydermoperiostosis |
|
Eczematoid dermatitis, Osteomyelitis, Abnormal hair quantity, Small hand, Abnormal hair pattern, ... |
ORPHA:2796 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Wide mouth, Ataxia, Microdontia, Open mouth, Mandibular prognathia, Impaired social interactions,... |
OMIM:156200 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Supernumerary tooth, Thick eyebrow, Prominent fingertip pads, Brittle hair, Thin ver... |
OMIM:617412 |
Potocki-Shaffer Syndrome |
|
Parietal foramina, Micrognathia, Short philtrum, Downturned corners of mouth, Epicanthus, Brachyc... |
ORPHA:52022 |
Schwartz-Jampel Syndrome |
|
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Micromelia, Microcornea, L... |
ORPHA:800 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Everted lower lip vermilion, Delayed eruption of teeth, Truncal obesity, Fine ... |
ORPHA:181393 |
Hamamy Syndrome |
|
High palate, Wide mouth, Sparse hair, Sparse eyebrow, Craniosynostosis, Osteopenia, Down-sloping ... |
OMIM:611174 |
Frank-Ter Haar Syndrome |
|
High palate, Wide mouth, Osteopenia, Megalocornea, Downslanted palpebral fissures, Bowing of the ... |
OMIM:249420 |
Lead Poisoning |
|
Small for gestational age, Depression, Cognitive impairment, Delayed eruption of teeth, Memory im... |
ORPHA:330015 |
Brachydactyly, Type E2 |
|
Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short metacarpal |
OMIM:613382 |
Trichorhinophalangeal Syndrome Type 2 |
|
Sparse scalp hair, Cone-shaped epiphyses of the phalanges of the hand, Supernumerary tooth, Thick... |
ORPHA:502 |
Intellectual Disability, Birk-Barel Type |
|