Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... |
ORPHA:2412 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Complete atrioventri... |
OMIM:619142 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Gingival fi... |
ORPHA:1832 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... |
ORPHA:141152 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Preaxial polydactyly, Absent nasal bridge, Narrow greater sciatic notch, Neonatal d... |
OMIM:617925 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Broad na... |
OMIM:619736 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Orbital craniosynostosis, Hydrocephalus, Optic atrophy, Dandy-Walker malformation |
ORPHA:1538 |
Hamamy Syndrome |
|
Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Long toe, Syndac... |
OMIM:611174 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Long fingers, ... |
OMIM:614753 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Postaxial hand pol... |
OMIM:136760 |
Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Cor pulmonale, Upper airway o... |
OMIM:261800 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Bul... |
ORPHA:3080 |
Filippi Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, 2-4 toe syndactyly, Low hanging columella, ... |
OMIM:272440 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Prominent nose, Carious teeth, Micrognathia, Ta... |
OMIM:613684 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an... |
OMIM:614886 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate, Abnormal heart morphology, Convex nasa... |
OMIM:600252 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
Intellectual Disability, Birk-Barel Type |
|
Narrow nasal bridge, Tented upper lip vermilion, Broad nasal tip, Micrognathia, High, narrow pala... |
ORPHA:166108 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Depressed nasal bridge, High palate, Camptodactyly |
OMIM:617055 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Dental crowding, Narrow nasal ridge, Prominent na... |
OMIM:620370 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short palm, Finger syndactyly, Anteverted nares, Genu recurvatum, Camp... |
ORPHA:915 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, ... |
ORPHA:3434 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Unilateral ... |
ORPHA:1919 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Complete atrioventricula... |
ORPHA:476126 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Non-midline cleft lip, Split hand, Wide nasal bridge, Tooth agen... |
ORPHA:1406 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal tip, Tapered fin... |
OMIM:300602 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Micrognathia, Microglossia, Dental malocclusion, Cl... |
OMIM:614669 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te... |
ORPHA:83450 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Depressed nasal b... |
ORPHA:2025 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Mi... |
ORPHA:2863 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Cleft ... |
OMIM:608572 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal... |
ORPHA:2007 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Cutis marmorata, Broad nasal tip, Dental ma... |
OMIM:619719 |
Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Asthma, Cleft palate, Increased overbite,... |
OMIM:618761 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, High palate, Atrial septal defect, Dislocated radial ... |
OMIM:617063 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Toe syndacty... |
OMIM:241800 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Pyle Disease |
|
Delayed eruption of teeth, Mandibular prognathia, Metaphyseal dysplasia, Persistence of primary t... |
OMIM:265900 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Bifid nasal tip... |
OMIM:619343 |
Marshall-Smith Syndrome |
|
Irregular dentition, Apnea, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Gl... |
OMIM:602535 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Cleft upper lip, Cr... |
OMIM:265050 |
Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis |
ORPHA:718 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Underdeveloped nasal alae, Micrognathia, Deep philtrum, Depressed nasal r... |
ORPHA:77300 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Ulnar deviation of the wrist, Camp... |
ORPHA:1529 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia... |
OMIM:113000 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Optic atrophy, Age... |
ORPHA:1528 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Depr... |
ORPHA:166272 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Broad nasal tip, Orofacial cleft, Cleft upper lip |
ORPHA:85287 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... |
ORPHA:2409 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger... |
OMIM:617926 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Flared ... |
OMIM:156510 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short 1st metacarpal, Hip dysplasia, Short middle phalanx of finger, H... |
ORPHA:63442 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Mitral valve prolapse, Abnormal epiphysi... |
ORPHA:90653 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Clinodactyly |
OMIM:300934 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Mandibular prognathia, Brachydactyly, Abnormal thumb morphology, Abnormal zy... |
ORPHA:2511 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific... |
OMIM:166750 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Hypoplasia of the primary te... |
OMIM:257850 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Wormian bones, Dental crowding, Broad long bones, Coxa valga,... |
OMIM:269300 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Anteverted nares, Ventricular septal defect, Rocker bottom foot, Wide mo... |
OMIM:618506 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Wi... |
ORPHA:3309 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Abnormal nasopharynx morphology, Anteverted nares, Ventricular septal d... |
OMIM:300000 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... |
ORPHA:3282 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Depressed nasal bridge, Micrognathia, Abnormality of the ... |
ORPHA:3098 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Anteverted nares, Depressed nasa... |
OMIM:217980 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Wide nasal bridge, Downturned corners of... |
OMIM:618729 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Ventriculomegaly |
ORPHA:2185 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Finger clinodactyly, High palate, Short tibia, Atrioventricular c... |
ORPHA:2751 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Atkin-Flaitz Syndrome |
|
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ... |
ORPHA:1193 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Micrognathia, Cleft hard palate, Broad nasal tip, Delayed ep... |
ORPHA:166016 |
Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... |
ORPHA:2791 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Genu recurvatum, Campto... |
ORPHA:137834 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radiu... |
OMIM:602418 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Zechi-Ceide Syndrome |
|
Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b... |
OMIM:612916 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Atrioventricular block, Cardiomyopathy, Impotence, Abnormal autonomic nervous ... |
ORPHA:85447 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Camptodactyly of finger, Shoulder flexion contracture, Rocker botto... |
OMIM:619110 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Dyspl... |
OMIM:619737 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Distal Deletion 10P |
|
Micrognathia, Non-midline cleft lip, Abnormality of the elbow, Wide nasal bridge, Cleft palate, E... |
ORPHA:1580 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Atrial septal defect, Incisor m... |
OMIM:615502 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Prom... |
OMIM:613792 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Camptodactyly of finger, Abnormality of the nose, Abnormality of the dentition,... |
ORPHA:1794 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Wide nasal bridge, Downturned ... |
OMIM:618067 |
Microphthalmia With Limb Anomalies |
|
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... |
OMIM:206920 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypoplasia of the m... |
OMIM:620099 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Micrognathia, Cleft upper lip... |
OMIM:612561 |
Skraban-Deardorff Syndrome |
|
Anteverted nares, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Absent cupid's... |
OMIM:617616 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose |
ORPHA:2015 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas... |
ORPHA:420561 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Prema... |
ORPHA:633 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Anteverted nares, Depressed ... |
ORPHA:1327 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Metatarsus valgus, Radial devia... |
ORPHA:1388 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Narro... |
ORPHA:261295 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postax... |
OMIM:617102 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ... |
OMIM:615042 |
Cohen Syndrome |
|
Short metacarpal, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow p... |
OMIM:216550 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Abnorm... |
ORPHA:2712 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Wide nose, Congenital hip dislocation, Left atrial enlarg... |
OMIM:300280 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth |
ORPHA:2901 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, Micrognathia, Secundum atrial septa... |
ORPHA:2257 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Death in infancy, Hypoplasia of the ulna, Anteverted nares, Micrognathi... |
OMIM:619135 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Congenital hip dislocation, Cleft maxillary alveolar ridge,... |
ORPHA:508488 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Hypertension, Abnormality of macular pigmentation, Abnormal auto... |
ORPHA:97229 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Comple... |
OMIM:264480 |
Lujan-Fryns Syndrome |
|
Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Abnormality of the dentition, M... |
ORPHA:776 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft upper lip, Cleft palate, Transposition of the grea... |
OMIM:231060 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Cleft upper lip, Depressed ... |
OMIM:312150 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, De... |
OMIM:618622 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Prominent superficial veins, Short metacarpal, Depressed nasal bridge,... |
OMIM:612350 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Prominent nose, Micrognathia, Anteriorly placed anus, Prominent fingertip pads, ... |
OMIM:305450 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate, Polyda... |
OMIM:300484 |
Holzgreve Syndrome |
|
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Anteverted nares, Persistence of primary teeth, Micrognathia, Thick lower lip ve... |
OMIM:618342 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Cleft palate, Bowing of the arm, Retro... |
OMIM:249710 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Depre... |
ORPHA:314655 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... |
OMIM:235510 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Abnormal heart ... |
OMIM:239800 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Wide nose, Brachydactyly, Anteverted nares, Depressed nasal bridge, Sa... |
OMIM:614607 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Retinal dysplasia, Ventriculomegaly |
OMIM:614830 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Short metacarpal, Brachydactyly, Genu recurvatum, Re... |
OMIM:184260 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow... |
ORPHA:2662 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Limited elbow movement, Missing ribs, Complete atrioventricular canal defe... |
OMIM:151100 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... |
OMIM:614399 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Hydrocephalus, Optic atrophy |
OMIM:619470 |
Hartsfield Syndrome |
|
Encephalocele, Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft... |
ORPHA:2117 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... |
ORPHA:1106 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Depressed nasal bridge, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Elbow... |
OMIM:108721 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... |
ORPHA:1143 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Flexion contracture, Optic atrophy |
OMIM:300884 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:601390 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof... |
OMIM:616331 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Ectodermal dysplasia, Cutaneous synda... |
OMIM:225060 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Anteverted nares, Ventricular septal defect, Fractured radiu... |
OMIM:616897 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxil... |
ORPHA:245 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth... |
OMIM:246560 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Micro... |
OMIM:613849 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common... |
OMIM:619143 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Anteverted nares, Prominent nasal bridge, Underdevelo... |
OMIM:618825 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, De... |
OMIM:607812 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Depressed nasal bridge, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal... |
OMIM:129400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Bro... |
ORPHA:438216 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, Overriding aorta, Micrognathia, Wide nasal bridge, 2-3 toe sy... |
ORPHA:3304 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A... |
OMIM:619797 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Depressed nasal bridge, Ventricular septal defect, Toe syndactyly, Pe... |
ORPHA:46627 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Median cleft lip, Toe syndactyly, Underdeveloped nasal alae, Micrognathia, Apl... |
ORPHA:1234 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Apnea, Abnormal dental enamel morphology, Open bite, Cariou... |
ORPHA:10 |
Autosomal Recessive Amelia |
|
Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum morphology, Amelia ... |
ORPHA:1027 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Micrognathia, Respiratory insufficiency, Cleft palate, High palate |
OMIM:615731 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... |
OMIM:616300 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Sagittal craniosynostosis, Dandy-Walker malformation |
OMIM:123155 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, Wide nasal bridge, High palate, Prenatal deat... |
OMIM:618393 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Tarsal synostosis, Ab... |
ORPHA:1307 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, High ... |
ORPHA:85279 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Bicuspid aortic valve, Abnormality of the dentition, Broad n... |
OMIM:618529 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Atrial septal defect, Dislocated radial head, Syndactyly, Promin... |
OMIM:605039 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Parietal Foramina 1 |
|
Wormian bones, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia o... |
OMIM:106260 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, ... |
OMIM:119600 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses |
ORPHA:1423 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Atrial septal defect, Anteverted nares, Micrognathia, Bilateral trip... |
OMIM:619356 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Coffin-Siris Syndrome 3 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Short distal phalanx of the 5th finger, Clef... |
OMIM:614608 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Abnorm... |
ORPHA:1458 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial septal defect,... |
OMIM:164200 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met... |
ORPHA:1540 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplas... |
OMIM:616367 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat... |
OMIM:164745 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Short distal phalanx of finger, Abnormality of the de... |
ORPHA:2776 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Bicuspid aortic valve, Cleft upper lip, Duplication o... |
OMIM:243310 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dela... |
ORPHA:819 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... |
OMIM:306955 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, ... |
OMIM:304100 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Malar flattening, ... |
OMIM:268850 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove... |
OMIM:619793 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metatarsal, Hypopl... |
ORPHA:950 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper l... |
ORPHA:50 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, High, narr... |
OMIM:608799 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced... |
OMIM:618737 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Prominent nasal bridge, Cleft palate |
ORPHA:85273 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Persistent open anterior fontanelle, Bowing of the long bones, Abnormal dent... |
ORPHA:1798 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Flexion contracture, Interphalangeal thumb joint contracture,... |
OMIM:613870 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Intestinal malrotation, Narrow nose, Cutis marmorata, Carious teeth, Long nose, ... |
OMIM:617602 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Bulbous nose, Small ha... |
ORPHA:1787 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Retinopathy |
ORPHA:26 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Hyperplasia of the maxilla |
OMIM:613671 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Prominent nasal bridge, Rocker bottom foot, Prominent nose, Carious te... |
OMIM:214150 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Cough, Atrial septal defe... |
ORPHA:96170 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Triphalangeal thumb, Short mandibular rami,... |
OMIM:141400 |
Distal Monosomy 7Q36 |
|
Micrognathia, Bulbous nose, Non-midline cleft lip, Cleft palate, Symphalangism affecting the phal... |
ORPHA:1636 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi... |
OMIM:244600 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High pala... |
OMIM:300373 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Small scrotum, Cardiac arrest, Cryptorchidism, Abnormal autonomic nervous sy... |
ORPHA:168593 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal... |
ORPHA:3201 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Cone-shaped epiphysis, Short philtrum, Dentino... |
ORPHA:71267 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Depressed nasal ri... |
OMIM:613885 |
Thomas Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Anteverted nares, Bulbous nose, Clinodactyly, Macrogl... |
OMIM:616354 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp... |
ORPHA:894 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Slender finger, ... |
OMIM:613192 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Dysplastic pulm... |
OMIM:300958 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Coxa valga, Wide anterior fontanel, Abnor... |
ORPHA:163649 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Block vertebrae, Proximal placement of thumb, Hia... |
OMIM:304050 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:615546 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... |
ORPHA:137888 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Cleft upper lip, Hypoplasi... |
OMIM:305400 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... |
ORPHA:439822 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Hydrocephalus, Flexion contracture, Optic atrophy, Dilated cardiomyopath... |
ORPHA:272 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Broad nasal tip, Hypoplastic lef... |
OMIM:615524 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuosity, Ar... |
ORPHA:104 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Ventric... |
ORPHA:1908 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hypospadias, Delayed cranial suture closure, Craniosynostosis, Cryptorchidism, H... |
OMIM:175700 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, High palate, Widely spaced teeth, Abnormal tricuspid valve morphology,... |
ORPHA:192 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Prominent nose, Micrognathia, Hypo... |
ORPHA:763 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Hypoplasia of the... |
OMIM:610828 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... |
OMIM:614078 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan... |
DECIPHER:46 |
Down Syndrome |
|
Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f... |
OMIM:190685 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Thin vermilio... |
ORPHA:2631 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... |
ORPHA:1329 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, W... |
OMIM:228520 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Cleft soft palate, Abnorma... |
ORPHA:93316 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persistence of primary te... |
OMIM:265800 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Muscular ventricular septal defect, Brachydactyly, Adducted thumb |
OMIM:620062 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd... |
ORPHA:2710 |
Coach Syndrome 2 |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma |
OMIM:619111 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Optic atrophy |
ORPHA:2773 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Telangiectasia, Livedo, Conical incisor, Facial telangiectasia, Enamel hypoplasia,... |
OMIM:614564 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Oligodontia, Widely spac... |
OMIM:601216 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Mosaic Trisomy 14 |
|
Anteverted nares, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Abnormal rib mor... |
ORPHA:1703 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Arthrogryposis multiplex congenita |
ORPHA:250994 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Flared metaphysis,... |
OMIM:218400 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Spina ... |
ORPHA:2780 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, M... |
OMIM:300580 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Depressed nasal bridge, Sandal gap, Micrognathia, Bifid humerus, Lacunar halos ... |
OMIM:256050 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Bulbous nose, Wide nasal bridge, Thin vermilion border, Short... |
ORPHA:261304 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Myelomeningocele, Wide nasal bridge... |
ORPHA:1752 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Ventriculomegaly |
ORPHA:324416 |
Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Myelomeningocele, Cleft palate, Narrow pelvis bone, Abnormal ... |
ORPHA:66637 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Hip contracture, Micrognathia, Carious teeth, Coxa valg... |
OMIM:618363 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Anteverted nares, Micrognathia, Non-midline cleft... |
ORPHA:1915 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Crowded maxillary inc... |
ORPHA:397973 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Dental crowding, Ventricular septal defect, Single interphalangeal c... |
OMIM:257920 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Promine... |
ORPHA:364577 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal... |
OMIM:157900 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Respiratory insufficiency, Abnormal metacarpal morpho... |
ORPHA:93262 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Enlarged joints, Depressed nasal bridge, Dumbbell-shaped l... |
OMIM:156550 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S... |
OMIM:619339 |
Larsen-Like Syndrome |
|
Joint dislocation, Wide anterior fontanel, Dental malocclusion, Cleft palate, Absent nasal bridge... |
OMIM:608545 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Atrial septal d... |
OMIM:241310 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Anteverted nares, Depressed nasal bridge, Arachnodactyly, Micrognathia, High, narrow... |
OMIM:604841 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max... |
OMIM:302350 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Respiratory distress, Tented upper lip vermilion, Anteverted nares, Overlapp... |
OMIM:619383 |
Acrocraniofacial Dysostosis |
|
Anteverted nares, Choanal atresia, Prominent nasal bridge, Micrognathia, Craniosynostosis, Tapere... |
ORPHA:949 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... |
OMIM:600002 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Conical incisor, Atrial septal defect, Microdontia, Atrioventric... |
ORPHA:289 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Wide nose, Craniosynostosis, Persistence of primary teeth, Erythema, Recurrent pneumonia, High pa... |
OMIM:147060 |
Recombinant 8 Syndrome |
|
Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Cleft upper lip, Abnormality o... |
ORPHA:96167 |
Fried Syndrome |
|
Hydrocephalus, Abnormal optic nerve morphology |
ORPHA:85335 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Prominent nose, Downturned corners of mouth, ... |
OMIM:601808 |
Hao-Fountain Syndrome |
|
Cryptorchidism, Micropenis, Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Hydrocephalus, Flexion contracture, Abnormal left ventricular fu... |
OMIM:613155 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox... |
ORPHA:2484 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Wide nose, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge... |
ORPHA:1252 |
Bullous Dystrophy, Hereditary Macular Type |
|
Tapered finger, Acrocyanosis, Short finger, Death in childhood |
OMIM:302000 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Ventricular septal defect, Micrognathia, Complete atrioventricular canal defect... |
OMIM:236680 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypopla... |
OMIM:180849 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Situs inversus totalis, Upper airway obstruction, High palate... |
OMIM:612776 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Everted lower lip ... |
ORPHA:181 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Ventricular septal defect, Hypoplasia of the maxilla, Clinodactyly, Cle... |
OMIM:614261 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... |
OMIM:619148 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Hyperextensibility of the finger joints, Dental cr... |
OMIM:309520 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Poor wound healing, Hyperextensibilit... |
OMIM:130000 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, Wide nasal bridge, 2-3 t... |
OMIM:614701 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Underdeveloped nasal alae, Micrognat... |
OMIM:619941 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Disl... |
OMIM:182212 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis, Optic atrophy |
ORPHA:1672 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Encephalocele, Branchial fist... |
ORPHA:861 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia,... |
OMIM:610536 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Tented upper lip vermilion, Dental crowding, Depressed nasal bridge, Ventricular septa... |
OMIM:612582 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Delayed eruptio... |
OMIM:619322 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Cervical C2/C... |
OMIM:214300 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Anteverted nares, Dental crowding, Depressed nasal bridge,... |
OMIM:145420 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Sit... |
OMIM:202650 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f... |
OMIM:277170 |
3C Syndrome |
|
Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Atrial s... |
ORPHA:7 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Micrognathia, Delayed e... |
OMIM:114290 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short metacarpal, Ivory epiphyses of the dis... |
OMIM:190350 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip... |
OMIM:300882 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Na... |
ORPHA:93946 |
Double Outlet Right Ventricle |
|
Cyanosis, Depressed nasal bridge, Intestinal malrotation, Ventricular septal defect, Abnormality ... |
ORPHA:3426 |
Diprosopus |
|
Abnormality of the nose, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac septu... |
ORPHA:1681 |
Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodo... |
OMIM:119580 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atre... |
ORPHA:2759 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Agenesis of ... |
OMIM:618577 |
Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Abnorma... |
ORPHA:3015 |
Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Tarsal synostos... |
ORPHA:2756 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Micrognathia, Hypoplasia ... |
ORPHA:560 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Genu recurvatum, Narrow palate, Short upper lip, Thick vermilion border, S... |
ORPHA:364028 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Zaki Syndrome |
|
Wide nose, Toe syndactyly, Anteverted nares, Micrognathia, Long fingers, Wide nasal bridge, Wide ... |
OMIM:619648 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho... |
OMIM:216100 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:619302 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ... |
ORPHA:2549 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin... |
OMIM:117650 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abn... |
ORPHA:2707 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, M... |
ORPHA:293939 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia |
ORPHA:99772 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Lateral... |
OMIM:618736 |
Tarp Syndrome |
|
Apnea, Micrognathia, Glossoptosis, Atrial septal defect, Finger syndactyly, Anteverted nares, Wid... |
ORPHA:2886 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Dental malocclusion, Thin ri... |
OMIM:612921 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Optic atrophy, Bradycardia, Abnormal autonomic nervous system physiology, Joint ... |
OMIM:614498 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, W... |
ORPHA:2107 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio... |
OMIM:166250 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Wormian bones, Congenital hip dislocation |
OMIM:614450 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge |
OMIM:300676 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Depressed nasal bridge, Abnormal den... |
ORPHA:96264 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... |
OMIM:604757 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, V... |
OMIM:612530 |
Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... |
ORPHA:79113 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Short palm, Duplication ... |
OMIM:268310 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... |
OMIM:308050 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Wide nose, Rocker bottom foot, Wide nasal bridge, Atrial... |
ORPHA:89844 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Depressed nasal bridge, Anteverted nares, Pierre-Robin ... |
OMIM:184840 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Micrognathia, Secundum atrial septal defect, Prominent nose, High palate, Broad th... |
OMIM:620194 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narr... |
OMIM:608154 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
ORPHA:352682 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micrognathia, High, narrow palate, Downturned corners of mouth, Wide... |
OMIM:122470 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Clinodactyly, Orofacial cleft, Downturned ... |
OMIM:180700 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Osteolysis involving tar... |
OMIM:166300 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Depressed nasal bridge, Anteverted nares, Premature loss of primary teeth, Prominent nasal bridge... |
OMIM:617364 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Atrial septal defect, Thick nasal al... |
ORPHA:79345 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Micrognathia, Cleft palate, Cleft upper lip |
OMIM:601076 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum |
ORPHA:93945 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Pallister-Hall Syndrome |
|
Anteriorly placed anus, Neonatal death, Syndactyly, Mesoaxial foot polydactyly, Anteverted nares,... |
OMIM:146510 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa... |
OMIM:600987 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow p... |
ORPHA:313892 |
Ramon Syndrome |
|
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Gingiva... |
ORPHA:3019 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis, Resp... |
ORPHA:207 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Carious teeth, Hypoplasia of the ma... |
ORPHA:50814 |
Orofaciodigital Syndrome Ix |
|
Median cleft lip, Toe syndactyly, Accessory oral frenulum, Abnormality of the dentition, Broad na... |
OMIM:258865 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Choanal atresia, Lip pit, Micrognath... |
ORPHA:1300 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Momo Syndrome |
|
Delayed eruption of teeth, Cutis marmorata, Thick lower lip vermilion, Dental malocclusion, Wide ... |
OMIM:157980 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Multiple joint contractures, Optic atrophy, Abnormal autonomic nervous system physiology, Ventric... |
ORPHA:466934 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentra... |
OMIM:616034 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Abnormal femur morphology, Nar... |
ORPHA:2063 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Elbow dislocation... |
ORPHA:2804 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... |
ORPHA:2476 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous n... |
OMIM:618779 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Wide nasal bridge, 2-3 toe syndactyly, R... |
OMIM:218000 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition |
OMIM:183400 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Down-sloping... |
ORPHA:96263 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Depressed nasal ridge, Hypodontia |
ORPHA:1816 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventri... |
OMIM:613153 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
Leukodystrophy, Hypomyelinating, 12 |
|
Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly |
OMIM:616683 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
ORPHA:369873 |
Multiple System Atrophy |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:102 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Wide nasal bridge, Cleft palate, Respiratory insufficie... |
OMIM:618388 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Midline defect of the nose, Bifid no... |
OMIM:229400 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly |
OMIM:613382 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening |
OMIM:183700 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers |
OMIM:619489 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Congenital diaphragmatic hernia, Hydrocephalus, Umbilical hernia, Agenesis of c... |
ORPHA:380 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Death in infancy, Finger syndactyly, Hallux valgus, Mitral stenosis, Camptodac... |
ORPHA:2008 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, High palate, Bilateral coxa valga, Atrial septal defe... |
OMIM:615582 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate |
OMIM:619452 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm... |
ORPHA:166100 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora... |
ORPHA:952 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Carious teeth, Nar... |
OMIM:272430 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Anteverted nares, ... |
ORPHA:2616 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Trisomy 9P |
|
Dental crowding, Abnormal nasal morphology, Non-midline cleft lip, Impacted tooth, Downturned cor... |
ORPHA:236 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Hip dis... |
ORPHA:2003 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
Potocki-Shaffer syndrome |
|
Abnormality of the male genitalia, Delayed cranial suture closure |
DECIPHER:34 |
Pai Syndrome |
|
Encephalocele, Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal ... |
ORPHA:1993 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Exaggerated cupid's bow, Prominent nasal bridge, Camp... |
ORPHA:2215 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Periarticular soft-tiss... |
OMIM:601492 |
Catel-Manzke Syndrome |
|
Joint dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... |
OMIM:616145 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle... |
ORPHA:217017 |
Hydrolethalus |
|
Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Anencephaly, Cleft palate,... |
ORPHA:2189 |
Multiple System Atrophy, Parkinsonian Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:98933 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Bowed humeru... |
OMIM:211350 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, Pigmentary retinopathy, Late... |
OMIM:613154 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Cervical ribs, High palate |
OMIM:609654 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth, Respiratory insufficiency, Arthritis, Cough, Purpura |
ORPHA:375 |
Kabuki Syndrome 2 |
|
Natal tooth, Prominent fingertip pads, Broad nasal tip, Micrognathia, Lower lip pit, Dental maloc... |
OMIM:300867 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Sweeney-Cox Syndrome |
|
Micrognathia, High palate, Short philtrum, 2-5 toe syndactyly, Patent foramen ovale, Median cleft... |
OMIM:617746 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:306542 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Choanal atresia, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Depr... |
OMIM:607597 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Prominent nose, Bulbous nose, Retrognathia, Depressed nasal tip, Short philtru... |
ORPHA:293725 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Cutis marmorata, Broad nasal tip, Bifid nasal tip, Secundum atrial septal defect, Wide mouth, Sho... |
OMIM:619758 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Anteverted nares, Abnormal dental enamel morphology, Craniosyno... |
ORPHA:1515 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Broad thumb, Smooth ph... |
OMIM:614526 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi... |
OMIM:601957 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal autonomic nervous system ... |
ORPHA:330001 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Cleft upper lip,... |
OMIM:263750 |
Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Hypoplasia of ... |
OMIM:608149 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Death in infancy, Depressed nasal bridge, Ventricular septal defect, Sagittal cranio... |
OMIM:616901 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Depressed nasal bridge, Craniosynostosis, Ankle flexion contracture, Micrognathia, Knee flexion c... |
ORPHA:284417 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Depressed nasal bridge, Broad nasal tip, Micrognathia, High, narrow palate,... |
OMIM:617808 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Non-midline cleft lip, Postaxial hand polydactyly, Wide nasal bridge, Cleft palate,... |
ORPHA:2075 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Abnormal hear... |
OMIM:601499 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, ... |
ORPHA:398156 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Cari... |
OMIM:277440 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus |
ORPHA:397951 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Short palm, Apnea, Prominent nasal bridge,... |
ORPHA:85201 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, L... |
OMIM:615866 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... |
OMIM:211380 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Anteverted nares, Truncus arteriosus,... |
OMIM:615583 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal nas... |
ORPHA:1133 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short metatarsal, Enamel hyp... |
OMIM:612463 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Clef... |
ORPHA:261236 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Broad nasal tip, Non-midline cleft lip, Cleft palate, Eve... |
ORPHA:1784 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulde... |
OMIM:109400 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones, Optic atrophy |
ORPHA:2787 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... |
ORPHA:2753 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Fin... |
ORPHA:3352 |
Osteoglosphonic Dysplasia |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Tooth agenesis, Multiple uneru... |
ORPHA:2645 |
Posttransplant Acute Limbic Encephalitis |
|
Hyperglycorrhachia, CSF lymphocytic pleiocytosis, Abnormal autonomic nervous system physiology, I... |
ORPHA:163921 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Prominent nasal... |
ORPHA:2673 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Triploidy |
|
Finger syndactyly, Intestinal malrotation, Micrognathia, Non-midline cleft lip, Meningocele, Clef... |
ORPHA:3376 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Pro... |
OMIM:123790 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Anteverted nares, Arachnodactyly, Broad hallux, Hypoplasia of the maxilla, Bulbous nose, Hip disl... |
ORPHA:481152 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Postaxia... |
OMIM:617088 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, High palate, At... |
OMIM:213980 |
Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Abnorma... |
ORPHA:896 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, High, narrow palate, Mitral valve prolapse, Short palm, Failure of eruption of per... |
ORPHA:3238 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Optic atrophy |
OMIM:618174 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Ante... |
ORPHA:2059 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion,... |
ORPHA:329178 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Prominent nose, Micrognathia, Clinodactyly, Downturned corners of mouth, Hi... |
ORPHA:177907 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Ectrodactyly, Hyposmia, ... |
OMIM:147950 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation |
OMIM:264270 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:457279 |
8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Dextrocardia, Micrognathia, High, narrow palate, Long fingers, Abnormality of d... |
ORPHA:96092 |
Tetanus |
|
Tachycardia, Hypertension, Bradycardia, Abnormal autonomic nervous system physiology, Autonomic b... |
ORPHA:3299 |
Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Downturned corners of m... |
ORPHA:79500 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ... |
ORPHA:90650 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Gapo Syndrome |
|
Prominent scalp veins, Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior ... |
OMIM:230740 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Abnormality... |
OMIM:608156 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide m... |
OMIM:201180 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Broad nasal tip, Hypoplasia of the maxilla, Retinal telangie... |
OMIM:620157 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Momo Syndrome |
|
Delayed eruption of teeth, Cutis marmorata, Thick lower lip vermilion, Dental malocclusion, Femor... |
ORPHA:2563 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... |
ORPHA:2750 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Delayed closure of the anterior fontanelle, Micrognathia,... |
OMIM:224300 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Broad nasal tip, Bifid nasal tip, Meningocele, Upper airway obst... |
ORPHA:1827 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Thin ribs, High palate, Neonatal death, Retrognathia |
OMIM:300219 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Patent foramen ovale, Hamartoma... |
OMIM:269860 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Intermittent epis... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Intermittent epis... |
ORPHA:590 |
Stickler Syndrome, Type I |
|
Arthropathy, Anteverted nares, Depressed nasal bridge, Arachnodactyly, Micrognathia, Osteoarthrit... |
OMIM:108300 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Increased laxity of ankles, Hydrocephalus, Flexion contracture, Optic atrophy |
ORPHA:99947 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... |
ORPHA:3378 |
Multiple System Atrophy, Cerebellar Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:227510 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Respiratory distress, Depressed nasal bridge, Choanal atresia, Postaxial polydac... |
OMIM:300968 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Aplastic clavicle, Prominent nose, Carious teeth, Long nose, Bulbous nose,... |
ORPHA:2769 |
Anophthalmia Plus Syndrome |
|
Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi... |
ORPHA:1104 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
OMIM:615191 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morphology, Cleft pal... |
ORPHA:2145 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... |
OMIM:617412 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Bulbous nose, Thick low... |
OMIM:619103 |
Nephronophthisis 18 |
|
Hypertension, Hydrocephalus, Retinitis |
OMIM:615862 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br... |
ORPHA:93259 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Grayish ... |
ORPHA:2980 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... |
ORPHA:828 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ... |
ORPHA:2554 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Sotos Syndrome |
|
Mandibular prognathia, Atrial septal defect, Anteverted nares, Depressed nasal bridge, Ventricula... |
OMIM:117550 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Widely spaced teeth, Prominent fingertip pads, Atrial septal ... |
OMIM:610443 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe... |
OMIM:613805 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia |
OMIM:254120 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Hy... |
ORPHA:370959 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Anteverted nares, Depressed nasal bridge, Choanal atresia, Craniosynostosis... |
ORPHA:1555 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Bulbous nose, Palate fi... |
OMIM:616788 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Short palm, Brachydactyly, Hypoplasia of the ma... |
ORPHA:2588 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Postaxial hand... |
ORPHA:2166 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Enlarged joints, Abnormality of the elbow, Genu valg... |
ORPHA:263463 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Prominent nasal bridge, Micrognat... |
OMIM:300534 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Short cla... |
OMIM:614592 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
Diaphanospondylodysostosis |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, ... |
OMIM:608022 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Cleft palate, Ectroda... |
OMIM:615465 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Tapered finger, Dental malocclusion, Shortening of all distal phalange... |
OMIM:616202 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid foss... |
OMIM:224690 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Shor... |
OMIM:244300 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Supernumerary ... |
OMIM:619122 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Cl... |
ORPHA:96149 |
Ctcf-Related Neurodevelopmental Disorder |
|
Short philtrum, Joint contracture of the 5th finger, Atrial septal defect, Prominent fingertip pa... |
ORPHA:363611 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia |
ORPHA:93950 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy... |
OMIM:171420 |
Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lowe... |
ORPHA:782 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... |
ORPHA:1791 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Ventricular septal defect, Depressed nasal bridge, Postaxial po... |
OMIM:617895 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Pete... |
OMIM:608013 |
Fryns Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Prominent fingertip pads, Atrial septal ... |
OMIM:229850 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Prominent nasal bridge, Long nose, Tracheobronchomalacia, Pier... |
OMIM:619184 |
Hereditary Methemoglobinemia |
|
Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, Metaphyseal widening, Multiple joint dislocation, High palate... |
ORPHA:536467 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Depressed nasal bridge, Promin... |
ORPHA:794 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Ectodermal dys... |
OMIM:601701 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wide ant... |
ORPHA:2021 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Abnormality of the dentition, Wide nasal bridge, Cle... |
ORPHA:2314 |
Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, C... |
ORPHA:391474 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Cleft p... |
ORPHA:1988 |
Craniosynostosis 6 |
|
Bicoronal synostosis, Delayed cranial suture closure, Craniosynostosis, Lateral ventricle dilatat... |
OMIM:616602 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Mic... |
OMIM:114300 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Branchio-Oculo-Facial Syndrome |
|
Broad nasal tip, Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Wide nasal brid... |
ORPHA:1297 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Micrognathia, Bulbous nose,... |
OMIM:614437 |
Emanuel Syndrome |
|
Broad jaw, Congenital hip dislocation, Dental crowding, Intestinal malrotation, Delayed eruption ... |
OMIM:609029 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Prominent fingertip pads, Anteverted nares, Sanda... |
OMIM:612863 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Dextrocardia, Abnormality of the dentition, Malabsor... |
ORPHA:2315 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Recurrent upper respiratory tract infections, Cor pulm... |
OMIM:263000 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Tented upper lip vermilion, Dental crowding, Shoulder flex... |
OMIM:620369 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Sandal gap, ... |
OMIM:612651 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Atrial septal defect, Fused thoracic vertebrae, S... |
ORPHA:97360 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Long phil... |
ORPHA:228396 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
Schilbach-Rott Syndrome |
|
Prominent nose, Long nose, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palat... |
OMIM:164220 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent nose, Tapered finger, Long fingers, Thick lower lip vermilion, Joint contracture of the... |
OMIM:614407 |
Walker-Warburg Syndrome |
|
Retinal detachment, Ventriculomegaly, Hypoplasia of penis, Retinal dystrophy, Chorioretinal dyspl... |
ORPHA:899 |
Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Neonatal wrinkled skin of hands and feet, Coxa vara, High palate, Mic... |
OMIM:278250 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow pa... |
ORPHA:435638 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Chorioretinal atrophy, Aortic valve stenosis, Dandy-Walk... |
OMIM:220220 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Anteverted nares, Ventricular septal defect, Clinodactyly, Pierre-Robin se... |
OMIM:619980 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc... |
OMIM:618727 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Cleft palate, O... |
OMIM:613823 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Prominent nose, Metaphyseal sclerosis, Flat acetabular roof, ... |
ORPHA:2976 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Shor... |
ORPHA:1770 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Apnea, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypop... |
OMIM:602483 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Optic Pathway Glioma |
|
Precocious puberty, Papilledema, Hydrocephalus, Optic atrophy |
ORPHA:2086 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Abnormal cardiac septum morphology, Malabsorption |
ORPHA:99811 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Genu valgum, Lateral ventricle d... |
ORPHA:300570 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Cleft upper lip, Broad nasal tip, Bifid nasal tip, Preaxial polydactyl... |
OMIM:603671 |
Alexander Disease |
|
Facial palsy, Sudden cardiac death, Aqueductal stenosis, Precocious puberty, Hydrocephalus, Hyper... |
ORPHA:58 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Nasal congestion, Pol... |
ORPHA:137914 |
Trisomy 18 |
|
Microretrognathia, Ventricular septal defect, Choanal atresia, Camptodactyly of finger, Spina bif... |
ORPHA:3380 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Micrognathia, Tapered ... |
ORPHA:251071 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Micrognathia, Overtubulated long bones, Atrial septal defect... |
OMIM:275210 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Anteverted nares, Depressed nasal bridge, Micrognathia, Submucous cleft hard palat... |
OMIM:222765 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Subp... |
OMIM:264700 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Hypothalamic hamartoma, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Cerebellar-Facial-Dental Syndrome |
|
Anteverted nares, Ventricular septal defect, Micrognathia, Tapered finger, Dental malocclusion, A... |
ORPHA:444072 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Hydrocephalus, Optic atrophy, Colpocephaly, Distal arthrogryposis, Acetabular... |
OMIM:619833 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... |
OMIM:613091 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Depressed nasal bridge, Anteverted nares, Large tarsal bon... |
OMIM:215150 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Cutis marmorata, Ventricular septal defect, Protruding tongue, Alveolar ridge o... |
OMIM:612938 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Micrognathia, Wide nasal b... |
OMIM:247200 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos... |
OMIM:614815 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor... |
OMIM:615219 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... |
OMIM:234100 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate, Plantar flexion contracture |
OMIM:620011 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Micro... |
ORPHA:404440 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Hypoplastic ilia, Wide anter... |
ORPHA:2347 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced t... |
OMIM:617865 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Anteverted nares, Depressed nasal bridge, Short columella, T... |
OMIM:617180 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Patellar apl... |
OMIM:613804 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Upper limb peromelia, Anteriorly placed anus, D... |
ORPHA:1299 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Proximal... |
OMIM:261540 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate... |
OMIM:268305 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Underdeveloped nas... |
OMIM:209885 |
Neu-Laxova Syndrome 1 |
|
Swollen lip, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal death, Ptery... |
OMIM:256520 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Gapo Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Choan... |
ORPHA:2067 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm... |
ORPHA:93958 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Death in infancy |
OMIM:272300 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Aplasia/Hypoplasia of the n... |
ORPHA:2095 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... |
OMIM:309350 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Depressed nasal bridge, Wide anterior fontanel, Femoral bowi... |
OMIM:616482 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia |
OMIM:601809 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Larsen Syndrome |
|
Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta, Vertebral fusion,... |
OMIM:150250 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Prematurely aged appearance, Ara... |
ORPHA:3342 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia |
ORPHA:261102 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Brachydactyly, Anteverted nar... |
OMIM:101800 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Junctional ectopic tachycardia, Hydrocep... |
OMIM:309801 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Anosmia, Cleft palate, Finger joint hypermobility, Hyposmia |
OMIM:244200 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Optic atrophy, Lateral ventricle dilatation |
OMIM:614219 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Multiple rib fractures, Bowing of the long bones, Short femur, Micrognathia... |
OMIM:613848 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276556 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Amyloid deposition in the vitreous humor, Cardiomyopathy, Impotence, Abnormal autonomic nervous s... |
OMIM:105210 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Secundum atrial septal defect, Downturned corners of... |
OMIM:616268 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Ventricular septal defect, Ham... |
OMIM:174300 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Raine Syndrome |
|
Mandibular prognathia, Micrognathia, High palate, Choanal stenosis, Neonatal death, Microdontia, ... |
OMIM:259775 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Increased CSF protein concentr... |
OMIM:245200 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Pierre-Robin sequence, Hip dislocation, Cleft palat... |
OMIM:183900 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High... |
OMIM:617402 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Protruding tongue, Persistence of primary t... |
OMIM:610253 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lo... |
OMIM:616462 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Pterygium, Short phalanx of fing... |
OMIM:263650 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hydrocephalus, Hip dislocation, Agenesis of corpus callosum,... |
OMIM:109120 |
Shprintzen-Goldberg Syndrome |
|
Bowing of the long bones, Anteverted nares, Camptodactyly of finger, Craniosynostosis, Micrognath... |
ORPHA:2462 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Anteverted nares, Occipital en... |
OMIM:619879 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Recurren... |
OMIM:619769 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus |
OMIM:300886 |
Marden-Walker Syndrome |
|
Anteverted nares, Dextrocardia, Arachnodactyly, Micrognathia, High, narrow palate, Pyloric stenos... |
OMIM:248700 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... |
ORPHA:199302 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Short lingual frenulum, Dental crowding, Micrognathia, Osteo... |
ORPHA:740 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Cleft upper lip, Anosmia, Pr... |
OMIM:147250 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Volvulus, Short nose |
OMIM:617802 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig... |
OMIM:123500 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal sept... |
OMIM:303600 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Cubitus valgus, Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion... |
ORPHA:363444 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Flexion contracture, Agenesis of corpus callosum, Retinal degeneration |
OMIM:615249 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia... |
OMIM:618300 |
Hec Syndrome |
|
Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele, Cardiomyopa... |
ORPHA:2119 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia, Sudden episodic ... |
ORPHA:466722 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276575 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Absent nares... |
ORPHA:990 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Cardiomegaly, Finger joint hypermobility, Atrial sep... |
ORPHA:363705 |
Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Prominent superficial veins, Underdeveloped nasal ... |
OMIM:269880 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Increased CSF protein concentration, Optic neuropathy, Increased CSF lactate, Subependymal cysts,... |
ORPHA:478029 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Atrial ... |
OMIM:139210 |
Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, High palate, ... |
OMIM:612292 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276580 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Vulval varicose vein, Syncope, A... |
ORPHA:71273 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa m... |
OMIM:305100 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Abnormality of the knee, Respiratory distress, Hypoventilation, Neonatal r... |
ORPHA:98915 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal dystrophy, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Optic... |
ORPHA:49827 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th f... |
ORPHA:373 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... |
OMIM:300952 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed ... |
ORPHA:798 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, Camptodactyly of toe, 2-3 finger syndactyly, Cl... |
ORPHA:158687 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious te... |
ORPHA:1051 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct... |
ORPHA:97355 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Down-sloping shoulders, Abnormality of the dentition, Bifid nasal t... |
OMIM:304110 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Camptodactyly of finger, Arachnodactyly, Nar... |
ORPHA:83 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis, Micrognathia, D... |
ORPHA:85199 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Cleft palate, Gl... |
OMIM:618021 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Respiratory distress, Tapered finger, Hip dysplasia, Hypodontia, Finger join... |
ORPHA:544503 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Long nose, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Sho... |
ORPHA:221016 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Depressed nasal bridge, Myofiber disarray, High palate, H... |
OMIM:604377 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Miscarriage, Micrognathia, Bowing of the legs, Hypoplastic ilia,... |
ORPHA:1865 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Hydrocephalus, Craniosynostosis |
ORPHA:1516 |
Pitt-Hopkins Syndrome |
|
Short metatarsal, Finger clinodactyly, Short philtrum, Acrocyanosis, Hyperventilation, Anteverted... |
ORPHA:2896 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... |
OMIM:157170 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Progeroid facial appearance, Hypo... |
OMIM:231070 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Pure Autonomic Failure |
|
Impotence, Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology |
ORPHA:441 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Anteverted nares, ... |
OMIM:272460 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Apnea, Conical tooth, Long nose, Micrognathia, Oligodont... |
OMIM:612313 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Cerebral ischemia, Arrhythmia, Ventricu... |
ORPHA:60040 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Ventricular septal defect, Tapered finger, Hypopla... |
OMIM:609460 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Micrognathia, S... |
OMIM:105650 |
1Q44 Microdeletion Syndrome |
|
Prominent metopic ridge, Optic disc hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Ventr... |
ORPHA:238769 |
Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Femoral retroversion, Cleft palate, Cleft upper lip |
OMIM:607371 |
Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Ectodermal dysplasi... |
ORPHA:1811 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Syndactyly, Micrognathia, Bilateral choanal atresia/stenosis,... |
ORPHA:314679 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Polydactyly |
OMIM:615993 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... |
OMIM:619950 |
Isotretinoin Syndrome |
|
Spina bifida occulta, Depressed nasal bridge, Cleft palate, Micrognathia |
ORPHA:2305 |
Holoprosencephaly |
|
Deep philtrum, Depressed nasal ridge, Absent nares, Encephalocele, Aplasia/Hypoplasia involving t... |
ORPHA:2162 |
7Q31 Microdeletion Syndrome |
|
Prominent fingertip pads, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Asthma, Cl... |
ORPHA:251061 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Bifid uvula, Cleft palate, Micrognathia |
OMIM:606164 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocephalus, Large fontanelles, Radioulnar synos... |
ORPHA:171839 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly, Retrognathia |
OMIM:619981 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Respiratory distress, Knee contracture, Respiratory fail... |
OMIM:620278 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosi... |
ORPHA:2414 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia |
ORPHA:596 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Dental crowding, Selective tooth agenesis, Abnormal finger fle... |
OMIM:210600 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Aplasia/Hypop... |
OMIM:613803 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, ST segment elevation, Ventricular tachycardia, Right bundle branc... |
ORPHA:263297 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Depressed nasal bridge, Wide anterior fontanel, Jaundice, Neonatal death |
OMIM:231680 |
47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Az... |
ORPHA:8 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca... |
OMIM:147891 |
Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... |
ORPHA:1209 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ... |
OMIM:119500 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
Nail-Patella Syndrome |
|
Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Patellar aplasia, Antecubital pterygium,... |
OMIM:161200 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Anteverte... |
OMIM:600373 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cleft upper lip, Rib fusion, Cleft palate, Wide mouth, Bifid ribs, Short nose, Broad p... |
ORPHA:1394 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br... |
ORPHA:93260 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu... |
ORPHA:505248 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Sinusitis, Sandal gap, Choanal atresia, Cleft upper l... |
OMIM:251260 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia |
ORPHA:99742 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Asthma, Esophageal stricture, Hypodontia, Enamel hypoplasia |
OMIM:616029 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Atrial septal defect, Broad hallux, Supernumerary tooth, ... |
ORPHA:353281 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Depressed nasal ridge, Orofacial cleft, High palate, Atrial septal defect,... |
OMIM:607872 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Dia... |
OMIM:259710 |
Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Anteverted nares, Depressed nasal bridge... |
ORPHA:50945 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Facial palsy, Hydrocephalus, Osteoarthritis, Optic atrophy, Genu valgum, Arthr... |
ORPHA:53 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Mandibular prognathia, Congenital hip dislocation, Depressed nasal bri... |
OMIM:268400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Hydrocephalus, Flexion contracture, Optic atrophy, Dilated car... |
OMIM:253800 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Depressed nasal bridge, Delayed epiphyseal ossification, Macroglossia, Abno... |
ORPHA:226313 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ... |
OMIM:619752 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
Bamforth-Lazarus Syndrome |
|
Retrognathia, Choanal atresia, Cleft palate |
ORPHA:1226 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Depressed nasal bridge, Wide nose, Cleft upper lip... |
OMIM:242840 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Hypoplastic iliac wing, Broad ribs, Depressed nasal bridge, Split hand, Res... |
OMIM:253200 |
Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Chorioretinal coloboma |
ORPHA:163961 |
Holoprosencephaly 4 |
|
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med... |
OMIM:142946 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect, Choanal atresia, Micrognathia, Cleft palate, Sup... |
OMIM:613309 |
Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Muscular ventricular septal defect, Submucous cle... |
OMIM:619227 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Depressed nasal bridge, Wide nasal bridge |
OMIM:167730 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Limited elbow movement, Micrognathia, Proximal placement of thumb, Downtur... |
OMIM:610759 |
Focal Facial Dermal Dysplasia Type Iv |
|
Cleft palate, Cleft upper lip |
ORPHA:398189 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Unde... |
ORPHA:453499 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Congenital foot contractu... |
ORPHA:565624 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Abnormal rib morpho... |
OMIM:602196 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Cutaneous fi... |
OMIM:606851 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia |
ORPHA:2309 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Micrognathia, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, ... |
OMIM:227270 |
Opitz Gbbb Syndrome |
|
Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Recurrent aspiration pneum... |
ORPHA:2745 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Depressed nasal bridge, Sho... |
OMIM:100800 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Short toe, Asthma, Cone-shaped epiphyses of the phalanges of the hand, La... |
OMIM:619269 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Atrial septal defect, Clinodactyly of... |
OMIM:274000 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia |
OMIM:614381 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Impotence, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension... |
OMIM:169500 |
Distal Deletion 19P |
|
Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Sho... |
ORPHA:96129 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Micrognathi... |
OMIM:615065 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Decreased testicula... |
ORPHA:85284 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus |
OMIM:260500 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo... |
ORPHA:2136 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Delayed closure... |
ORPHA:2962 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Abnormal autonomic nervous system physiology, Ventriculomegaly |
OMIM:617903 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia, Concave nasal ridge, Small placenta, Clinodactyly of the... |
ORPHA:73272 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Faciocardiomelic Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide mouth, Slender ... |
OMIM:612731 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Depressed nasal ridge, Tetraphocomelia, Hyp... |
OMIM:215140 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft pal... |
ORPHA:1790 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micrognathia, Wide nasal bridge, Respiratory i... |
OMIM:224410 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Pulmonic stenosis, Camptodactyl... |
OMIM:619123 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... |
OMIM:243180 |
Naxos Disease |
|
Cardiomyopathy, Cleft upper lip |
ORPHA:34217 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Mandibular prognathia, Hyperextensibility of the finger joints, Short ... |
OMIM:135500 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Wide nose, Metaphyseal widening, Recurrent pneumonia, Clubbing, Wide nasal ... |
OMIM:617303 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Pierre-Robin sequence... |
OMIM:620183 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... |
ORPHA:1427 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Depressed nasal bridge, Malar prominence, Abnormality of the dentition,... |
ORPHA:231226 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Hypoxemia, Submucous cleft ... |
ORPHA:2282 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Aspirati... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Aspirati... |
ORPHA:353277 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Advanced ossification of c... |
OMIM:269250 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Abnormality of the philtrum, Abnormal he... |
ORPHA:280 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Depressed nasa... |
OMIM:300990 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial f... |
OMIM:249000 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Oligozoospermia, Hypog... |
OMIM:602668 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Acalvaria |
|
Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, ... |
OMIM:613680 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Abnormal rib morphology, Cardiac f... |
ORPHA:77301 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Erythermalgia, Primary |
|
Palpitations, Abnormal autonomic nervous system physiology |
OMIM:133020 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Micrognathia, Submucous cleft hard palate, Cleft pal... |
OMIM:301043 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate, Short distal phalanx of ... |
OMIM:609166 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly, Retinal degeneration, Genu valgum |
OMIM:615630 |
Infantile Neuroaxonal Dystrophy |
|
Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of ... |
ORPHA:35069 |
Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Cyanosis, Intestinal malrotation, Choanal atresia, Ventr... |
ORPHA:1199 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cle... |
ORPHA:63862 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Distal Deletion 3P |
|
Anteverted nares, Micrognathia, Postaxial hand polydactyly, Cleft palate, Downturned corners of m... |
ORPHA:1620 |
Focal Dermal Hypoplasia |
|
Cleft ala nasi, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly pla... |
OMIM:305600 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Conical tooth, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl... |
OMIM:113300 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l... |
ORPHA:289157 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Abnormal dental enamel morphology, Prominent nasal bridg... |
ORPHA:96169 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Atrial septal defect, Exaggerate... |
OMIM:312870 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... |
ORPHA:3320 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Ventricular septal defect, Arachnodactyly, Micrognathia, Cleft lip, Partial duplic... |
OMIM:618348 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ... |
ORPHA:521445 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus, Abnormality of the elbow, Pulmonic stenosis, Hypertrophic cardiomy... |
ORPHA:2701 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:129900 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea... |
OMIM:211530 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Neonatal respiratory distress, Ventricular septal de... |
ORPHA:457193 |
Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Ventricular septal defect, Hypoplasia of the maxilla, Narrow palate, Aort... |
OMIM:277600 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Ectodermal dysplasia, Abnormality of the dentition, Cleft upper lip |
OMIM:273400 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele, Optic atrophy |
ORPHA:1914 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Atrial septal defect,... |
OMIM:194190 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Slender long bone, Miscarriage, Cleft palate, Cleft upper lip |
ORPHA:96181 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Wide nose, Left ventricular hypertrophy, Apnea, Cardiomega... |
ORPHA:79330 |
Neural Tube Defects, Susceptibility To |
|
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta |
OMIM:182940 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Umbilical hernia, Hydrocephalus, Shoulder dislocation |
ORPHA:2181 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... |
ORPHA:85443 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Wide nose, Atrial septal defect, Dent... |
ORPHA:769 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Radial bowing, Depressed nasal bridge, Dumbbell-shaped long bone, Hypoplast... |
OMIM:151210 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Micrognathia, Wide anterior fontanel, Clino... |
ORPHA:3338 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt... |
OMIM:614643 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Premature thelarche, Optic atrophy, Ventricular tachycardia, Torsade de pointes, ... |
OMIM:616878 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High... |
OMIM:614188 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... |
OMIM:143095 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Hydrocephalus, Optic atrophy, Telangiecta... |
ORPHA:93400 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Depressed nasal bridge, Ventricular septal defect, Hypoplasia of the maxilla, E... |
OMIM:608328 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypogonadotropic hypogonadism, Optic atrophy, Autonomic bladder dysfunction |
ORPHA:447896 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Atrial septal defect, Advanced eruption of teeth, Atri... |
ORPHA:818 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Concave nasal ridge, Short philtrum, Cleft palate |
OMIM:617337 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Pterygium, Hydranencephaly, Joint contracture, Dandy-Walker malformation, Agenesis... |
OMIM:225790 |
Porphyria Variegata |
|
Hypertension, Tachycardia, Scarring, Abnormal autonomic nervous system physiology |
ORPHA:79473 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis... |
OMIM:604292 |
Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Increased CSF protein concentration, Abnormal autonomic nervous system phys... |
ORPHA:282166 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short toe, Short metatarsal,... |
OMIM:103580 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Sh... |
ORPHA:436003 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... |
ORPHA:238468 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Asthma... |
OMIM:309900 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Neonatal... |
OMIM:609638 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Retinal coloboma, Agenesi... |
ORPHA:220493 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Tracheomalacia, Abnormality of the dentition, Underdeveloped nasal ... |
ORPHA:2108 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Clinodactyly, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Depressed nasa... |
OMIM:280000 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Ve... |
ORPHA:1465 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum,... |
ORPHA:3301 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Ventriculomegaly, Retinal atrophy, Occipital encephalocele, Optic nerve hypop... |
OMIM:236670 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch... |
OMIM:219000 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Depressed nasal ridge, Clef... |
OMIM:253290 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Clubbing of fingers, Gingival bleeding, Left ventricular hypertrophy, Volvulus, Bruisin... |
ORPHA:335 |
Zttk Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Craniosynostosis, Abnormality of the dentition... |
OMIM:617140 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Abnormal autonomic nervous system physiology |
OMIM:109150 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft lip,... |
ORPHA:1335 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Deep philtrum, Non... |
ORPHA:647 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Wide nose, Short femur, Sandal gap, Short humerus... |
OMIM:607143 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri... |
ORPHA:447788 |
Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy... |
OMIM:171300 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Abnormality of... |
OMIM:115150 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Retrognathia, Brachyd... |
OMIM:618265 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Encephalocele, S... |
OMIM:108720 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Isosexual precocious puberty, Abnormal vitreous humor morphology, Exudative r... |
ORPHA:2788 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Sagittal craniosynostosis, Hydrocephalus, Camptodactyly, Aortic valve stenosis, ... |
ORPHA:459061 |
16P12.1P12.3 Triplication Syndrome |
|
Bilateral cryptorchidism, Tachycardia |
ORPHA:485405 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f... |
ORPHA:508498 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Hypoplastic ischia, Micrognathia, Bowing of the legs, Gingival overgrowth, Metopic d... |
ORPHA:313855 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Craniosynostosis |
OMIM:612247 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb ... |
OMIM:616730 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Dumbbell-shaped long bone, Micrognathia, Metaphyseal widening,... |
ORPHA:440354 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r... |
ORPHA:2399 |
Odontoonychodermal Dysplasia |
|
Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spac... |
OMIM:257980 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Mitral regurgitation |
ORPHA:83473 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Proximal placement of thumb, Spina bifida, Abnormal thum... |
ORPHA:1120 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:860 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Short philtrum, Wormian bones, Umbilical hernia |
OMIM:617237 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Sandal gap, Carious te... |
OMIM:619229 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Depressed nasal bridge, Malar prominence, Abnormality of the dentition,... |
ORPHA:231214 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short metatarsal, Enamel hyp... |
OMIM:612462 |
Tularemia |
|
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Cough, P... |
ORPHA:3392 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Nasal polyposis, Dextrocardia, Situs inversus totalis, Bronchiec... |
OMIM:606763 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat... |
OMIM:619503 |
Joubert Syndrome 14 |
|
Encephalocele, Morning glory anomaly, Hydrocephalus, Meningocele, Optic atrophy, Intracranial hem... |
OMIM:614424 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Phoco... |
OMIM:268300 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Bulbous nose, Dilated cardiomyopa... |
OMIM:603736 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
Holt-Oram Syndrome |
|
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... |
ORPHA:392 |
Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Ventriculome... |
OMIM:617281 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Respiratory distress |
OMIM:616974 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Hernia, Ventriculomegaly |
OMIM:602501 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Tapered finger, Thick lower lip vermilion, Abnormal he... |
ORPHA:261652 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Cutaneous photosensitivity, Eclabion, Meckel divert... |
OMIM:616395 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, J... |
OMIM:182250 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Atrial septal defect... |
OMIM:620186 |
Floating-Harbor Syndrome |
|
Enlarged joints, Long nose, Hypoplasia of the maxilla, Oligodontia, Humeral pseudarthrosis, Short... |
ORPHA:2044 |
Congenital Heart Block |
|
Cyanosis, Crackles, Pericardial effusion, Endocardial fibroelastosis, Pleural effusion, Patent fo... |
ORPHA:60041 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Hip contracture, Broad nasal tip, Prominent crus of helix, Broad distal... |
OMIM:619194 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... |
ORPHA:79126 |
Trichothiodystrophy 2, Photosensitive |
|
Cutaneous photosensitivity, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Tarp Syndrome |
|
Atrial septal defect, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, ... |
OMIM:311900 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia |
OMIM:614653 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the ... |
OMIM:300166 |
Trisomy 20P |
|
Inguinal hernia, Hypospadias, Camptodactyly of finger, Spina bifida, Cryptorchidism, Abnormal aut... |
ORPHA:261318 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Short... |
ORPHA:1519 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Microdontia, Advanced erupt... |
OMIM:615873 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... |
ORPHA:249 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Desmosterolosis |
|
Depressed nasal bridge, Intestinal malrotation, Abnormality of the nose, Micrognathia, Metatarsus... |
ORPHA:35107 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... |
OMIM:265120 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Retinal detachment, Genu recurvatum, Hydrocephalus, Polycystic ovari... |
ORPHA:2969 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradia... |
OMIM:251230 |
Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Non-midline cleft lip, Abn... |
ORPHA:887 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft upper lip, Cleft palate, Chylothorax, Tetralogy of... |
OMIM:153400 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, High palate |
OMIM:271225 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... |
ORPHA:60032 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia, Optic atrophy |
ORPHA:1764 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Progeroid facial appearance, Widely spa... |
ORPHA:90322 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Ectodermal dysplasia |
OMIM:129550 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue nodules, Postaxial foot pol... |
OMIM:258850 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Serotonin Syndrome |
|
Abnormality of the autonomic nervous system, Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Mend Syndrome |
|
Broad hallux, Prominent nasal bridge, Overlapping toe, Asymmetry of the mouth, Micrognathia, Wide... |
ORPHA:401973 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Long philtrum, Short nose, Adducted thumb |
ORPHA:50810 |
Trisomy 1Q |
|
Omphalocele, Small scrotum, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchid... |
ORPHA:261344 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Sinusitis, Nasal polyposis, Cutis marmorata, Abnormal pericardium morphol... |
ORPHA:183 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Broad nasal tip, Submucous cleft hard palate, Wide nasal brid... |
OMIM:618106 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Inguinal hernia, Progressive flexion contractures, Optic ... |
ORPHA:93932 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Ectodermal dysplasia, Hypodontia |
OMIM:601345 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Dextrocardia, High palate, Short philtrum, Long... |
OMIM:618929 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... |
ORPHA:2834 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Nasu-Hakola Disease |
|
Hydrocephalus, Abnormal adipose tissue morphology, Ventriculomegaly |
ORPHA:2770 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upper lip, Long finger... |
OMIM:614294 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculom... |
OMIM:618476 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... |
ORPHA:464 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Ventricular septal defect,... |
ORPHA:513456 |
Fraser Syndrome |
|
Cleft ala nasi, Dental crowding, Orofacial cleft, High palate, Encephalocele, Death in infancy, F... |
ORPHA:2052 |
Isolated Arrhinia |
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Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... |
ORPHA:1134 |
Peters Plus Syndrome |
|
Micrognathia, Bicuspid pulmonary valve, Widely spaced teeth, Clinodactyly of the 5th finger, Spin... |
ORPHA:709 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile cilia, Respiratory... |
OMIM:614874 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Prominent nose, Long nose, Micrognathia, Bulb... |
ORPHA:3047 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Wide nasal bridge, Localized hypoplasia of dental enamel, Clin... |
ORPHA:73223 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Velopharyngeal insufficiency, Submucous cle... |
OMIM:192430 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Short... |
OMIM:616894 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hernia |
ORPHA:251046 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Aortic valve stenosis |
OMIM:615599 |
Angelman Syndrome |
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Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv... |
OMIM:615287 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Inguinal hernia, Persistent open anterior fontanelle, Congenital hip di... |
ORPHA:357058 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
Amelogenesis Imperfecta, Type Ic |
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Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Buratti-Harel Syndrome |
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Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Hig... |
OMIM:619314 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Flexion contracture, Impotence, Abn... |
ORPHA:99027 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Postaxial polydactyly... |
OMIM:258860 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Ventricular septal defect, Prominent nasal bridge, Cleft soft palate, Underdevelop... |
ORPHA:268261 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... |
ORPHA:2916 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Inguinal hernia, Congenital hip dislocation, Hydrocephalus, Large fontanelles, Wormian bones, Age... |
OMIM:612940 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventric... |
OMIM:615996 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Atelosteogenesis Type Ii |
|
Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Short metacarpal... |
ORPHA:56304 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Cle... |
OMIM:200610 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati... |
ORPHA:1675 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormal heart valve morphology, Abnormal morphology of... |
ORPHA:1340 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:231550 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Charge Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Abnormal sof... |
ORPHA:138 |
Chime Syndrome |
|
Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplas... |
ORPHA:3474 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal br... |
ORPHA:3404 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short lingual frenulum, Partial anosmia, Total anosmia, Midgut malrotation, Dilated car... |
ORPHA:2326 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hydrocephalus |
OMIM:269920 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Prominent nasal bridge, Broad nasal tip, Carious teeth, Mi... |
OMIM:223370 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Wide cranial sutures, Short femur, Depressed nasal bridge, Anteverted nares... |
OMIM:618188 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Microdontia, Atrial... |
OMIM:135900 |
Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Depressed nasal bridge, Broad hallux, Sandal gap,... |
ORPHA:404448 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Colpocephaly, Congenital contracture, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
Myopathy, Centronuclear, X-Linked |
|
Facial palsy, Cryptorchidism, Hydrocephalus, Flexion contracture, Dandy-Walker malformation |
OMIM:310400 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... |
ORPHA:922 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... |
ORPHA:542306 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Congenital hip dislocation, Prominent nose, Abnormal periodontium morpholog... |
ORPHA:480880 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate |
ORPHA:2165 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... |
OMIM:610978 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Prominent nose, Cardiomegaly, High, narrow palate, Widely spaced teeth, Short ph... |
OMIM:300967 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Semilobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Proboscis, Abnormal pattern of respiration, Depressed nasal ridg... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Proboscis, Abnormal pattern of respiration, Depressed nasal ridg... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Median cleft lip, Proboscis, Abnormal pattern of respiration, Depressed nasal ridg... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Proboscis, Abnormal pattern of respiration, Depressed nasal ridg... |
ORPHA:93924 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Micrognathia, P... |
ORPHA:83617 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Neuropathic arthropathy, Abnormal autonomic n... |
OMIM:256800 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Spina bifida, Micrognathia, Trismus, Submucous cleft hard palate, De... |
ORPHA:2671 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place... |
OMIM:612289 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial... |
OMIM:304120 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, U... |
ORPHA:1101 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Optic nerve hypoplasia, Hydrocephalus, Aplasia of the v... |
ORPHA:457284 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia, Neuropathic arthropathy |
OMIM:223900 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Abnormality of peripheral nerv... |
ORPHA:585 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertr... |
ORPHA:444013 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of m... |
ORPHA:3107 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial ... |
ORPHA:439 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... |
OMIM:271640 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Telangiectasia of the skin, Abnormal dental en... |
ORPHA:2909 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... |
ORPHA:26793 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Immotile cilia, Absent inner and outer dynein arms |
OMIM:618801 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Ventriculomegaly |
OMIM:618321 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, Right ... |
OMIM:619472 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped... |
ORPHA:920 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... |
OMIM:610910 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, Hyposmia, Failure... |
ORPHA:2250 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Broad hallux,... |
OMIM:615948 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D... |
ORPHA:534 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Hydrocephalus |
ORPHA:254516 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia... |
OMIM:263520 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Ventriculomegaly |
ORPHA:348 |
Noonan Syndrome 2 |
|
Atrial septal defect, Mitral stenosis, Ventricular septal defect, Micrognathia, Cardiomyopathy, H... |
OMIM:605275 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Knee flexion contracture, Downturned corners of mouth, High palate, Intercrural pte... |
OMIM:265000 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Short metacarpal, Abnormal dental enamel morphology, Abnormality of th... |
ORPHA:221008 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Flexion contracture, Optic atrophy, Dandy-Walker malformation... |
OMIM:304340 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of c... |
ORPHA:77298 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Osteopetrosis, Autosomal Recessive 1 |
|
Facial palsy, Craniosynostosis, Hydrocephalus, Optic atrophy, Facial paralysis |
OMIM:259700 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing... |
ORPHA:2636 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
Hemangioblastoma |
|
Retinal capillary hemangioma, Hydrocephalus |
ORPHA:252054 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Hydrocephalus, Flexion contracture, Decreased testicular size |
OMIM:616222 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, High, narrow palate, Clinodactyly, Short philtrum, High palate, Shor... |
OMIM:613406 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ... |
ORPHA:250999 |
Pontocerebellar Hypoplasia, Type 7 |
|
Cryptorchidism, Hydrocephalus, Optic atrophy, Ambiguous genitalia, Micropenis, Ventriculomegaly |
OMIM:614969 |
Acute Transverse Myelitis |
|
Increased CSF protein concentration, Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocy... |
ORPHA:139417 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Abnormal autonomic nervous system phy... |
ORPHA:94093 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
Encephalocraniocutaneous Lipomatosis |
|
Subcutaneous lipoma, Cryptorchidism, Hydrocephalus, Multiple central nervous system lipomas, Lipo... |
OMIM:613001 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cardiomyopathy, Cough, Left ventricular hypertrophy |
ORPHA:86812 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Apnea, Abnormal pulmonary valve morphology, ... |
ORPHA:667 |
Ogden Syndrome |
|
Inguinal hernia, Delayed cranial suture closure, Cryptorchidism, Cardiogenic shock, Arrhythmia, V... |
ORPHA:276432 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Depressed nasal bridge, Small abnormally formed scapu... |
ORPHA:140 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Posterior rib fusion, Atrial septal ... |
OMIM:265380 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Native American Myopathy |
|
Micrognathia, Cleft palate, Respiratory insufficiency, Downturned corners of mouth, High palate, ... |
ORPHA:168572 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Hydrocephalus, Rod-cone dystrophy, Abnormal sperm motility,... |
ORPHA:244 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micrognathia, Osteoarthritis, Abnormal tibia morphology, Abnormal fe... |
ORPHA:666 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Flexion contracture, Brad... |
OMIM:613327 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Rodrigues Blindness |
|
Narrow nasal bridge, Ectodermal dysplasia, Tooth malposition, Nasal flaring |
OMIM:268320 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Cleft soft palate, Ventricular septal defect, Micrognathia, Absent thumb,... |
ORPHA:124 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Congenital diaphragmatic hernia, Epispadias, Vitritis, Retinal dysplasia... |
ORPHA:2556 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Retinal dystrophy, Hydrocephalus, Optic disc col... |
OMIM:608091 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial nerve morpho... |
ORPHA:247234 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Camptodactyly of finger, Spina bifida, Hydrocephalus, Retinal coloboma, Hydr... |
ORPHA:2839 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Prominent metopic ridge, Agenesis of corpus callosum, Noncommunicating hydrocephalus |
OMIM:619320 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Hereditary Coproporphyria |
|
Atypical scarring of skin, Tachycardia |
ORPHA:79273 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Pulmonary embolism, Abnormal retinal vascular mo... |
ORPHA:3205 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Prominent metopic ridge, Congenital hip dislocation, Retinal dystrophy, Aqueductal stenosis, Cryp... |
OMIM:619512 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Wide mouth |
ORPHA:1231 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Downturned corners of mouth, Genu varum, Long toe, A... |
OMIM:264090 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Bicuspid aortic valve, Prominent nose, Micrognathia, De... |
OMIM:150230 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Optic atrophy, Cardiomyopathy, Hypogonadism, Abnormal autonomic nerv... |
ORPHA:3463 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
Cole-Carpenter Syndrome 2 |
|
Wide cranial sutures, Hydrocephalus, Lambdoidal craniosynostosis, Wormian bones, Coronal craniosy... |
OMIM:616294 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Papilledema, Arthropathy, Premature thelarche, Sclerotic cranial sutures, Atrioventr... |
ORPHA:371428 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, Abnormality of the uterus, Ventricul... |
ORPHA:59315 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Fasciitis, Tachycardia, Myocarditis, Capillary leak, Arthritis, Hypotension, Cellulitis, S... |
ORPHA:36234 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Ectodermal dysplasia |
OMIM:300291 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Cleft palate, Abnormal heart morphology, Wide m... |
OMIM:154500 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia... |
ORPHA:1855 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Microret... |
ORPHA:672 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ... |
ORPHA:1826 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Flexion contracture, Hip dislocation, Genu valgum, Genu varum |
OMIM:613330 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of the proximal ... |
ORPHA:314585 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly, Retinal degeneration |
OMIM:272200 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Chorioretinal coloboma |
ORPHA:2318 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Delayed cranial suture closure, Optic atroph... |
ORPHA:2135 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
3Mc Syndrome 3 |
|
Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly |
OMIM:248340 |
Graft Versus Host Disease |
|
Tachycardia, Fasciitis, Lipodystrophy, Dupuytren contracture, Limited elbow movement, Arthritis |
ORPHA:39812 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Cutis marmorata, Ventricular septal defect,... |
OMIM:100300 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Narrow nasal ridge, Micrognathi... |
ORPHA:280365 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Epididymitis, Hemop... |
ORPHA:99827 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Optic atrophy, Enamel hypoplasia, Ventriculomegaly |
OMIM:614576 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
Craniopharyngioma |
|
Papilledema, Hypogonadotropic hypogonadism, Myocardial infarction, Hydrocephalus, Optic atrophy, ... |
ORPHA:54595 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Wormian bones, Coronal craniosynostosis, Dentinogenes... |
OMIM:112240 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Reduced respiratory ciliary beating frequency, Absent central microtubular pair... |
OMIM:617091 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atrioventricular block... |
ORPHA:398124 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micrognathia, Downturned corners of mouth, Widely spaced teeth, High... |
ORPHA:199 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Lipoatrophy, Craniosynostosis... |
OMIM:616914 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morphology, Cryptorchidism, Hydrocep... |
ORPHA:1812 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Prominent nose, Micrognathia, Cleft lip, Bulbou... |
OMIM:301022 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Dural Sinus Malformation |
|
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar ... |
ORPHA:97339 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Fused cervical vertebrae, Joint swelling, Flaring of rib cage, Stomatitis, ... |
OMIM:612852 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla |
ORPHA:3044 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Hydranencephaly, Ventricular septal defect, Spin... |
ORPHA:1393 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... |
ORPHA:100050 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Tapered finger, Submucous clef... |
OMIM:619680 |
Peho Syndrome |
|
Hydrocephalus, Flexion contracture, Optic atrophy, Arthrogryposis multiplex congenita, Ventriculo... |
ORPHA:2836 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Impotence, Abnormal autonomic nervous system physiology, Hypotension |
ORPHA:93256 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala... |
OMIM:616835 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Craniosynostosis, Large joint dislocati... |
ORPHA:503 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Large posterior fontanelle, Bradycardia, Delayed cranial suture closure |
ORPHA:95717 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Abnormal autonomic nervous system physiology |
ORPHA:83601 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Inguinal hernia, Congestive heart failure, Hydrocephalus, Optic atrophy, Herni... |
ORPHA:579 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Aganglionic megacolon |
ORPHA:220497 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
H Syndrome |
|
Hallux valgus, Malabsorption, Cleft upper lip, Recurrent pharyngitis, Gingival overgrowth, Bronch... |
ORPHA:168569 |
Hurler Syndrome |
|
Angina pectoris, Camptodactyly of finger, Hydrocephalus, Abnormality of the elbow, Cardiomyopathy... |
ORPHA:93473 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Male sexual dysfunction, Abnormal autonomic nervous system physiology |
ORPHA:2828 |
Hurler Syndrome |
|
Aortic regurgitation, Inguinal hernia, Hydrocephalus, Flexion contracture, Cardiomyopathy, Mitral... |
OMIM:607014 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Dravet Syndrome |
|
Limited knee extension, Cyanotic episode, Tibial torsion |
ORPHA:33069 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Cardiomegaly, Pericardial effusion,... |
ORPHA:555874 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism, Vertebral fusion |
ORPHA:377 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Prominent nose, Micrognathia, Submucous cleft hard palate, Wide nasal bridge, Car... |
OMIM:618971 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Depressed nasal bridge, Cortical subperiosteal resorption of humeral m... |
ORPHA:94089 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Hydrocephalus, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Protruding tongue |
OMIM:619580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Cleft upper lip, Cleft palate, Macroglossia |
OMIM:613150 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Abnormality of th... |
ORPHA:3206 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Micrognathia, Widely spaced teeth, Short philtrum... |
OMIM:619841 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Cam... |
OMIM:601803 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation |
OMIM:612301 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology |
ORPHA:363722 |
Metatropic Dysplasia |
|
Hydrocephalus, Camptodactyly of finger |
ORPHA:2635 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor... |
ORPHA:1328 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Micrognathia, Single naris, Cleft palate, Hypoplastic pelvis, A... |
OMIM:273395 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth, Hypertrophic cardiomyopathy |
ORPHA:2348 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostosis, Postaxial p... |
OMIM:605627 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Tetrasomy 9P |
|
Joint dislocation, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short... |
ORPHA:3310 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Micrognathia, Trismus, Bulbous nose, Recurrent pneumonia |
OMIM:616271 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Erythema, Urticaria, Arthritis, Recurrent aphthous stomatitis, Acrocyanos... |
ORPHA:343 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Bacterial end... |
ORPHA:2038 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common at... |
OMIM:616749 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Optic disc hypoplasia, Hydrocephalus, Hypogonadism, Micropenis, V... |
OMIM:300514 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmona... |
ORPHA:3427 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Abnormal tricuspid val... |
ORPHA:199276 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Anencephaly, Cleft palate, ... |
OMIM:612284 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Abnormal auditory evoked p... |
OMIM:216400 |
Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Toe syndactyly... |
ORPHA:1512 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum, Atrial septal defect, Emp... |
ORPHA:500150 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly |
ORPHA:391428 |
Unilateral Ocular Duplication |
|
Encephalocele, Median cleft lip, Cleft palate |
ORPHA:3374 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Tenorio Syndrome |
|
Ventriculomegaly, Raynaud phenomenon, Hydrocephalus, Syncope, Delayed cranial suture closure |
OMIM:616260 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Mitral regurgitation, Ventriculomegaly, Knee flexion contracture |
OMIM:603387 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Hypoplasia o... |
OMIM:214800 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Telangiectasia of the skin, Abnormality of the dentition, Carious teeth, Mal... |
ORPHA:1775 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
Mgat2-Cdg |
|
Respiratory distress, Brachydactyly, Dental crowding, Ventricular septal defect, Abnormal heart m... |
ORPHA:79329 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Branchiooculofacial Syndrome |
|
Short thumb, Depressed nasal bridge, Preaxial hand polydactyly, Proximal placement of thumb, Abno... |
OMIM:113620 |
Ogden Syndrome |
|
Large posterior fontanelle, Inguinal hernia, Congenital hip dislocation, Prominent metopic ridge,... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Sepsis In Premature Infants |
|
Abnormality of the anterior fontanelle, Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Micrognathia, Situs inversus to... |
ORPHA:2461 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Overriding aorta, Miss... |
ORPHA:3186 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Cyanosis, Increased pulmonary vascular resistance, Nonproductive coug... |
ORPHA:60025 |
Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... |
ORPHA:3092 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pericardial effusion, Dyspnea, Hemothorax, Hypoxemia, Clubbing of fingers, Elevated pul... |
ORPHA:199241 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Dandy... |
ORPHA:1647 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Hydrocephalus, Pericarditis |
ORPHA:163596 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Microretrognathia, Curved middle phalanx of the 4th toe, Depressed nasal br... |
ORPHA:276413 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella, Ciliary dyskinesia |
OMIM:620197 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Abnor... |
ORPHA:3353 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Widely spaced teeth, Short philtrum, Atrial septal ... |
OMIM:301044 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Depressed nasal bridge, Dysp... |
ORPHA:79444 |
Coccidioidomycosis |
|
Pericarditis, Abnormal retinal morphology, CSF pleocytosis, Hydrocephalus, Vasculitis, Abnormalit... |
ORPHA:228123 |
Lead Poisoning |
|
Delayed eruption of teeth, Asthma, Miscarriage, Abnormal respiratory system physiology |
ORPHA:330015 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Wide anterior fontanel, Hydrocephalus, Flexion contracture, Humeroradial synostosis, Hypoplastic ... |
OMIM:207410 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms, Ciliary dyskinesia |
OMIM:612444 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus... |
ORPHA:3412 |
Multiple System Atrophy 1, Susceptibility To |
|
Impotence, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... |
ORPHA:747 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Split hand, Clubbing, Cleft palate, Death in childhoo... |
OMIM:600460 |
Bloom Syndrome |
|
Syndactyly, Prominent nose, Recurrent upper respiratory tract infections, Bronchiectasis, Agenesi... |
OMIM:210900 |
Chand Syndrome |
|
Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm... |
ORPHA:1401 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial g... |
OMIM:261740 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology |
OMIM:614575 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:220210 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Recurrent... |
ORPHA:209905 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Wide nose, Depressed nasal bridge, Cleft upper lip, Micrognathia, Esophageal atresia,... |
ORPHA:93271 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic card... |
OMIM:212140 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms, Immotile cilia, Respiratory insufficiency d... |
OMIM:614935 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Prominent nose, Micrognathia, Knee flexion contracture, Anteriorly pl... |
OMIM:606170 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Elbow flexion contracture, Knee flexion contracture, Pulmonary arterial hyperten... |
OMIM:601559 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Respiratory distress |
OMIM:616733 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Art... |
ORPHA:3452 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly |
OMIM:616355 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Abnormality of the dentition, Progeroid... |
ORPHA:90321 |
Muenke Syndrome |
|
Carpal synostosis, Hydrocephalus, Tarsal synostosis, Coronal craniosynostosis |
ORPHA:53271 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... |
ORPHA:791 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Hydrocephalus, Optic atrophy |
OMIM:618590 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli... |
ORPHA:1848 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Retinal dystrophy, Ventriculomegaly |
OMIM:616538 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Hypospadias, Cryptorchidism, Wide anterior fontanel, Wormian bones |
OMIM:614541 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Ectopia cordis |
OMIM:217100 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micrognathia, Aplasia of the ulna, High, narrow palate, ... |
ORPHA:2879 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Ch... |
OMIM:613717 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Choanal atresia, Camptodactyly of finger, Mic... |
ORPHA:1662 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Joint dislocation, Subdural hemorrhage, Retinal hemorrhage, Subepend... |
ORPHA:25 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Ambiguous genitalia... |
OMIM:257300 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricula... |
ORPHA:99646 |
Trisomy 17P |
|
Prominent metopic ridge, Hypoplasia of penis, Hydrocephalus, Flexion contracture, Aortic valve st... |
ORPHA:261290 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Short philtrum, Clinodactyly of the 5th finger, Median cleft palate, Bifid... |
ORPHA:1449 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Rib fusio... |
OMIM:134780 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... |
ORPHA:308552 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth |
ORPHA:98805 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar... |
OMIM:614921 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Cl... |
ORPHA:99106 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Postaxial hand polydactyly, Abnormal rib morphol... |
ORPHA:2519 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Stromme Syndrome |
|
Retinal vascular tortuosity, Hydrocephalus, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:243605 |
Culler-Jones Syndrome |
|
Postaxial polydactyly, Cleft palate, Cleft upper lip |
OMIM:615849 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Pneumonia, Carious teeth, Metaphyseal chondrodysplasia, Abn... |
ORPHA:811 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventr... |
ORPHA:210122 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Congenital hip dislocation, Wide cranial sutures, Cryptorchidism, Large fontanel... |
OMIM:219150 |
Haddad Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Clef... |
OMIM:301091 |
Potocki-Shaffer Syndrome |
|
Wormian bones, Micropenis |
OMIM:601224 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, M... |
OMIM:260400 |
Lymphedema-Distichiasis Syndrome |
|
Cleft palate, Cleft upper lip |
ORPHA:33001 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Prominent metopic ridge, Retinal atrophy, Ulnar deviation of the wrist, Optic ... |
ORPHA:97297 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Flexion contracture, Abnormal ovarian morphology, Micropenis, Abnormality of ... |
ORPHA:95699 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Monosomy 18Q |
|
Left-to-right shunt, Abnormal retinal morphology, Bilateral cryptorchidism, Congestive heart fail... |
ORPHA:1600 |
Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac... |
OMIM:314390 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Craniosynostosis, Hydrocephalus, Flexion contracture, Hydrocele test... |
ORPHA:314588 |
Degcags Syndrome |
|
Tachycardia, Hypospadias, Craniosynostosis, Hiatus hernia, Cryptorchidism, Genu valgum, Chordee, ... |
OMIM:619488 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, High palate, Patent foramen ovale, Anteverted nares, Depressed nasal bridge, Short ... |
OMIM:619325 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn... |
ORPHA:2131 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Death in childhood, Clinodactyl... |
OMIM:309500 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... |
ORPHA:1926 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cleft lip, Cli... |
ORPHA:1724 |
Desmosterolosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ambiguous genitalia, female, Ambiguous ge... |
OMIM:602398 |
Fatal Familial Insomnia |
|
Abnormal autonomic nervous system physiology |
OMIM:600072 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Wiedemann-Rautenstrauch Syndrome |
|
Congenital malformation of the left heart, Downturned corners of mouth, Short philtrum, Premature... |
ORPHA:3455 |
Rett Syndrome |
|
Abnormal autonomic nervous system physiology, Increased CSF lactate |
ORPHA:778 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Chorioretinal coloboma |
ORPHA:268249 |
Holoprosencephaly 14 |
|
Median cleft lip, Anteverted nares, Ventricular septal defect, Proboscis, Cleft lip, Aortic valve... |
OMIM:619895 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Unicoronal synostosis, Lipomyelomeningocele, Wormian bones, Occipital menin... |
OMIM:601707 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Recurre... |
ORPHA:508542 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Ramon Syndrome |
|
Delayed eruption of teeth, Angiokeratoma, Gingival fibromatosis, Narrow palate, Telangiectasia, J... |
OMIM:266270 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Micropenis, Bicoronal synostosis |
OMIM:619951 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Inguinal hernia, Portal hypertension, Hydrocephalus, Optic disc coloboma... |
ORPHA:1454 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Craniosynostosis, Malabsorption, Abnormal sacroiliac joint morphology,... |
ORPHA:289176 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Dilated cardiomyopathy, Esophageal varix, Respiratory insufficiency, Abnorm... |
ORPHA:367 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Flexion contracture, Optic atrophy, Clitoral hypoplas... |
OMIM:147791 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Retinal coloboma, Occipital meningoc... |
OMIM:616546 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy |
ORPHA:79312 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Communicating hydrocephalus, Absent outer dynein arms, Immotile cilia, Ciliary ... |
OMIM:244400 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Reduced subcutaneous adipose tissue, Prematurely aged appear... |
OMIM:133540 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition... |
ORPHA:1461 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
Thoracoabdominal Syndrome |
|
Cleft upper lip, Anencephaly, Cleft palate, Transposition of the great arteries, Ectopia cordis |
OMIM:313850 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, At... |
OMIM:617660 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Prematurely aged appearance, Phalangeal dislocation, ... |
ORPHA:287 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Heart block, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis of corpus callosum, Ventriculome... |
ORPHA:228308 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Depressed nasal bridge, Broa... |
ORPHA:79443 |
Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus, Delayed cranial suture closure, Abnormal cranial nerve morp... |
ORPHA:616 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Ventriculome... |
OMIM:613603 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti... |
OMIM:180500 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Craniosynostosis, Cryptorchidism, ... |
ORPHA:96121 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:254913 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1946 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Pericarditis, Prominent metopic ridge, Delayed cranial suture closure, Congenita... |
ORPHA:1272 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Cryptorchidism, Hydrocephalus, Meningocele, Umbilical hernia, ... |
OMIM:130720 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Cardiomegaly, Abnormality of the dentition |
ORPHA:349 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Tapered finger, Alveolar ridge overgrowth, Gingival overgrowth, Widely... |
OMIM:301072 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Hydrocephalus, Agenesis of corpus callosum, Arrhythmia |
ORPHA:157 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Cardiomegaly, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiecta... |
ORPHA:980 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Bifid nasal tip, Bifid nose, Median cleft lip and palate |
ORPHA:2213 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Orthostatic hypotension, Orthostatic tachycardia, CSF pleocytosis, Abnormal aut... |
ORPHA:217253 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Hypogonadotropic hypogonadism, Cryptorchidism, Flat acetabular roof, Fused cervica... |
OMIM:617159 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Ventricular septal defect, Cleft upper lip, Hypoplasia ... |
OMIM:164210 |
Hardikar Syndrome |
|
Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Jaundice, P... |
OMIM:301068 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... |
ORPHA:93325 |
Knobloch Syndrome |
|
Retinal detachment, Occipital encephalocele, Hydrocephalus, Abnormal vitreous humor morphology, M... |
ORPHA:1571 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Calcaneovalgus ... |
ORPHA:261537 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, Short toe, Recurrent upper respiratory tract infec... |
ORPHA:333 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficie... |
OMIM:252010 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Tapered finger, Abnormal heart morphology, Short finger, Acrocyanosis |
ORPHA:1867 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Exaggerated cupid's bow, Spina bifida, Broad nasal tip, Tapered finger, Wide nasal bridge, Dermat... |
OMIM:619480 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip... |
ORPHA:79404 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Abnormal dental enamel morphology |
ORPHA:2180 |
Primary Hyperoxaluria |
|
Cutis marmorata, Abnormality of the dentition, Rootless teeth, Cardiomyopathy, Abnormal dental pu... |
ORPHA:416 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, A... |
ORPHA:580 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Subdu... |
ORPHA:79282 |
Lambert-Eaton Myasthenic Syndrome |
|
Impotence, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic... |
ORPHA:43393 |
Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Micropenis, Dand... |
OMIM:617822 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Thick lower lip vermili... |
ORPHA:2785 |
Thanatophoric Dysplasia Type 1 |
|
Wide anterior fontanel, Hydrocephalus, Abnormal sacroiliac joint morphology, Ventriculomegaly |
ORPHA:1860 |
Achondroplasia |
|
Hip joint hypermobility, Wide anterior fontanel, Hydrocephalus, Flat acetabular roof, Knee joint ... |
ORPHA:15 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Knee contracture, Normal p... |
OMIM:620351 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Decreased ... |
OMIM:619608 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Flexion contracture, Hypogonadism, Micropenis, Dilated third ventr... |
ORPHA:500055 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Optic atrophy, Ventriculomegaly |
ORPHA:395 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Flexion contracture, Optic atrophy, Gen... |
OMIM:619321 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Calcaneovalgus ... |
ORPHA:2152 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular arrhythmia, Achi... |
ORPHA:98855 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus, Optic nerve compression, Hypogonadotropic hypogonadism |
ORPHA:91350 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Dandy-Walker malformation |
OMIM:147800 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Dyspnea, Muscu... |
OMIM:115197 |
Mucopolysaccharidosis Type 3 |
|
Ventriculomegaly, Inguinal hernia, Hydrocephalus, Flexion contracture, Optic atrophy, Atrioventri... |
ORPHA:581 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decreased heart rate variabi... |
OMIM:209880 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys... |
ORPHA:141083 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Conical tooth, Erythema, Oligodontia, Hypodontia, Supernumerary ribs |
OMIM:308300 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular arrhythmia, Achi... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular arrhythmia, Achi... |
ORPHA:98853 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca... |
OMIM:619657 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Hydrocephalus, Abnormal mo... |
ORPHA:1834 |
Primrose Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Anteverted nares, Depressed nasal brid... |
OMIM:259050 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Ankle swelling, Swelling of proximal interphalangeal joint... |
ORPHA:3260 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Retinopathy, Hydrocephalus, Optic atrophy |
ORPHA:220295 |
Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Large posterior fontanelle, Bradycardia, Delayed cranial suture closure |
ORPHA:95716 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Overlapping toe, Partial anomalous pulmona... |
OMIM:617478 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Tick-Borne Encephalitis |
|
Facial palsy, CSF pleocytosis, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic ner... |
ORPHA:297 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Calcaneovalgus ... |
ORPHA:261552 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Pigmentary retinopathy, Hypertension, Hypoplasia of the ovar... |
ORPHA:110 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Hip subluxation, Ventriculomegaly |
OMIM:259720 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Intracranial hemorrha... |
OMIM:617053 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Asthma, Nasal fl... |
ORPHA:466943 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Dental crowding, Aganglionic megacolon, Bicuspid aortic valve, Cleft upper lip, Down-... |
OMIM:309800 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Arrhythmia, Spina bifida occulta, Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Large fontanelles, Flat acetabular roof, Hypertension, Wormian bones, Pulmonary arterial hyperten... |
OMIM:613320 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Wide nasal bridge, Mitral v... |
ORPHA:500 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Ventricular septal defect, Abnormal stomach morphology, Neonatal ... |
ORPHA:141127 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Abnormal reproductive system morphology, Hydrocephalus,... |
ORPHA:1666 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Carious teeth, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative colitis, Gout, Inflam... |
ORPHA:79259 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular arrhythmia, Achi... |
ORPHA:98863 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension, Chondrocalcinosis |
OMIM:263800 |
Cryptococcosis |
|
Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Prostatiti... |
ORPHA:1546 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Subarachnoid hemorrhage, Cranial n... |
ORPHA:2356 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Trisomy 8P |
|
Multiple joint contractures, Cryptorchidism, Hydrocephalus, Metopic suture patent to nasal root, ... |
ORPHA:264450 |
Grant Syndrome |
|
Joint dislocation, Wormian bones, Large fontanelles |
ORPHA:2097 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Retinal detachment, Joint dislocation, Tricuspid regurgitation, Scarring, D... |
OMIM:601776 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, A... |
ORPHA:99104 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Broad hallux, Accessory oral frenulum, Hamartoma of... |
ORPHA:434179 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, Camptodactyl... |
ORPHA:284984 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Wormian bones, Abnormality of the knee, Abnormality of the ankle |
ORPHA:970 |
Cardiac Diverticulum |
|
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart... |
ORPHA:1686 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Apnea, Orofacial cleft, Polydactyly, Hypertroph... |
ORPHA:17 |
Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Multiple lipomas, Lateral ventricle dilatation, Hypertension, Supravent... |
OMIM:181270 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Orchitis, Hypovolemia, Capillary leak, Subconjunctival hemorrha... |
ORPHA:99826 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Anteverted nares, Depressed nasal bridge, Central hypoventilation, Cel... |
ORPHA:293987 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Small anterior fontanelle, Macular hypoplasia, Aortic valve stenos... |
OMIM:300960 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Aganglionic megacolon |
ORPHA:475 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aort... |
ORPHA:2299 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Choanal atresia, Proboscis, Abnorma... |
ORPHA:141099 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Multiple gastric polyps, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Pet... |
OMIM:225750 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Holoprosencephaly, Micrope... |
OMIM:270400 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Genu valgum |
ORPHA:488627 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Inguinal hernia |
ORPHA:250989 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Hypospadias, Testicular neoplasm, Spina bifida, Precocious puberty, Cryptorchi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Hypospadias, Testicular neoplasm, Spina bifida, Precocious puberty, Cryptorchi... |
ORPHA:363958 |
Parkinson Disease, Late-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:168600 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Precocious puberty, Cryptorchidism, Hydrocephalus, Genu valg... |
ORPHA:636 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Acute Intermittent Porphyria |
|
Hypertension, Tachycardia |
ORPHA:79276 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Spina bifida, Hydrocephalus, Myelomeningocele, Aplasia of th... |
ORPHA:2437 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Congenital diaphragmatic hernia, Rectovaginal fistula, Cervical C2/C... |
ORPHA:1780 |
Scimitar Syndrome |
|
Respiratory distress, Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous ... |
ORPHA:185 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Ambiguous genitalia |
ORPHA:1237 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Dental crowding, Delayed eruption of primary teeth, Widely spaced teeth, Hyperventilation |
OMIM:617799 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Wormian bones, Apnea, Abnormality of the dentition, Malabsorption, Elbow dislo... |
ORPHA:285 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Congenital diaphragmatic hernia, Craniosynostosis, Hydrocephalus, Multiple joint... |
OMIM:245600 |
Choreoacanthocytosis |
|
Dilated cardiomyopathy, Arthritis, Lateral ventricle dilatation, Abnormal autonomic nervous syste... |
ORPHA:2388 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Osteogenesis Imperfecta, Type V |
|
Wormian bones, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronation/sup... |
OMIM:610967 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation, Camptodactyly |
OMIM:614846 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy, Rod-cone dystrophy |
OMIM:616084 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Hydrocele testi... |
OMIM:613776 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Ventricular septal defect, Pyloric stenosis, Su... |
OMIM:235730 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Eosinophilic Fasciitis |
|
Arthritis, Acrocyanosis |
ORPHA:3165 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Dental malocclusion, Anosmia, Cleft palat... |
OMIM:603457 |
Eisenmenger Syndrome |
|
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... |
ORPHA:97214 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Ocular albinism |
ORPHA:2720 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture |
OMIM:617239 |
Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr... |
ORPHA:91347 |
Meckel Syndrome |
|
Encephalocele, True hermaphroditism, Abnormal chorioretinal morphology, Cryptorchidism, Hydroceph... |
ORPHA:564 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Atrial fibrillation, Hypergonadotropic hypogonadism, Prolonged QRS complex... |
ORPHA:273 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Ankle clonus, Atrial septal defect, Talipes valgus, Narrow nose |
OMIM:618891 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Parkinsonian-Pyramidal Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:171695 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Advanced ossification of carpal bones, Camptodactyly, Joint contrac... |
OMIM:224400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Cardiomegaly, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:365 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Bradycardia, U... |
ORPHA:226307 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Transient ischemic attack, Optic disc coloboma, Large fontanelles, Retin... |
ORPHA:2995 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Retinal hamartoma, Hydrocephalus, Optic atrophy, Abnormal morphology... |
ORPHA:538 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Flexion contr... |
OMIM:608612 |
Lessel-Kreienkamp Syndrome |
|
Wide cranial sutures, Pulmonic stenosis |
OMIM:619149 |
Gardner Syndrome |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:79665 |
Isolated Exencephaly |
|
Depressed nasal bridge, Abnormal facial skeleton morphology, Hypoplasia of the frontal bone |
ORPHA:563612 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Tapered finger, Patent foramen ovale, S... |
OMIM:619539 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Telangiectasia of the skin, Hydrocephalus, Flexion contracture, Hip d... |
OMIM:616007 |
Fanconi Anemia |
|
Aganglionic megacolon, Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, ... |
ORPHA:84 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Inguinal hernia, Aganglionic megacolon, Abnormal dental enamel morph... |
ORPHA:567 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Prominent metopic ridge, Shoulder flexion contracture, Elbow dislocation, Crypto... |
OMIM:210710 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Optic disc pallor, Flexion contracture |
OMIM:300232 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Pulmonary arteria... |
ORPHA:974 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... |
ORPHA:423 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Hydrocephalus |
OMIM:277400 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Infantile Krabbe Disease |
|
Ankle clonus, Respiratory failure, Respiratory distress |
ORPHA:206436 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Wormian bones, Dentinogenesis imperfecta |
ORPHA:166277 |
Silver-Russell Syndrome 1 |
|
Testicular seminoma, Hypospadias, Delayed cranial suture closure |
OMIM:180860 |
Bruck Syndrome 2 |
|
Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Wormia... |
OMIM:609220 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:733 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Flexion contracture, Genu valgum, Cardiomyopathy, Umbilical hernia, Acetabular dys... |
OMIM:253220 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
OMIM:613686 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion |
ORPHA:292 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones |
OMIM:259410 |
Cousin Syndrome |
|
Hydrocephalus, Ambiguous genitalia, female, Humeroradial synostosis, Ambiguous genitalia, male, C... |
OMIM:260660 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus, Tarsal synostosis, Abnormality of the wrist |
ORPHA:2378 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Optic disc colob... |
ORPHA:261337 |
Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Congestive heart failure, Pulmonary insufficiency, Large fontanelles |
OMIM:166210 |
Leprosy |
|
Testicular mass, Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous ... |
ORPHA:548 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Gomez-Lopez-Hernandez Syndrome |
|
Wormian bones, Wide anterior fontanel, Craniosynostosis |
OMIM:601853 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Umbilical hernia, Bruising susceptibility, Cleft soft palate |
OMIM:614557 |
Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Cryptorchidism, Meningocele, Wormian bones, Umbilical h... |
ORPHA:2789 |
Poems Syndrome |
|
Pericardial effusion, Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Re... |
ORPHA:2905 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... |
OMIM:212093 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cardiomyopathy |
OMIM:251000 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Lipoatrophy, Limited elbow movement, Delayed closure of the anterior fontan... |
OMIM:614008 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Jaundice, Dilated cardiomyopathy,... |
OMIM:619573 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy, External genital hypoplasia |
OMIM:600151 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Knee dislocation, Inlet ventricular s... |
OMIM:619534 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Hypoplasia of the retina, Retina... |
OMIM:253280 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Contracture of the distal interphalangeal joi... |
OMIM:617072 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Myocarditis, Nonproductive cough, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Hernia of the abdominal wall |
ORPHA:2184 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Optic disc pallor, Aortic regurgitation, Craniosynostosis, Genu valg... |
ORPHA:309282 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Wide anterior fontanel, Wormian bones, Pulmonary arterial hypertension, Dent... |
OMIM:259420 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Craniosynostosis |
ORPHA:1064 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Hip dislocation, Hernia, Wormian bones, Delayed cranial suture closure |
OMIM:616603 |
Osteogenesis Imperfecta, Type Ix |
|
Wormian bones, Dentinogenesis imperfecta |
OMIM:259440 |
Japanese Encephalitis |
|
Respiratory distress, Genu recurvatum, Elbow flexion contracture, Respiratory paralysis, Abnormal... |
ORPHA:79139 |
Neurooculorenal Syndrome |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Agen... |
OMIM:620305 |
Q Fever |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... |
ORPHA:781 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Elbow dislocation, Large fontanelles, Delayed cranial suture closure |
ORPHA:2249 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... |
OMIM:209900 |
Meningioma |
|
Papilledema, Hypogonadotropic hypogonadism, Facial palsy, Cerebral hemorrhage, Hydrocephalus, Imp... |
ORPHA:2495 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
White-Sutton Syndrome |
|
Wormian bones, Rod-cone dystrophy, Optic nerve hypoplasia, Congenital diaphragmatic hernia |
OMIM:616364 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Short tibia |
OMIM:620306 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Rheumatoid arthritis |
ORPHA:589 |
Gaucher Disease |
|
Joint dislocation, Hydrocephalus, Osteoarthritis, Abnormal macular morphology, Pulmonary arterial... |
ORPHA:355 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Delayed cranial suture closure, Crypto... |
ORPHA:1606 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition... |
ORPHA:99050 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failu... |
ORPHA:85450 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Hypospadias, Optic atrophy, Knee flexion contracture, Minimal subcutaneous fat, ... |
OMIM:210730 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Hydrocephalus, Genu valgum, Crowded carpal bones, W... |
OMIM:102500 |
Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Facial palsy, Left bundle branch block, Ventricular bigeminy |
OMIM:610131 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Tachycardia, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorch... |
OMIM:618280 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... |
ORPHA:813 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Malabsorption, Intestinal perforation, Erythema, Tracheoesophageal fistula,... |
ORPHA:537 |
Listeriosis |
|
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Jaundice, Endocarditis, ... |
ORPHA:533 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture |
OMIM:618733 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Anteverted nares, Small hand, Short foot, Open mouth |
OMIM:615273 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Micropenis, Agenesis of corpus cal... |
OMIM:227646 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Scarring, Facial palsy, Abnormal cerebrospinal fluid morph... |
ORPHA:797 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Umbilical hernia, Hydrocephalus, Congenital hip dislocation |
OMIM:104350 |
Yunis-Varon Syndrome |
|
Wide cranial sutures, Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Renovascular h... |
ORPHA:3472 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet... |
ORPHA:191 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Micropenis |
OMIM:602361 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Osteogenesis Imperfecta, Type Xxii |
|
Wormian bones, Dentinogenesis imperfecta |
OMIM:619795 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel |
OMIM:601356 |
Grant Syndrome |
|
Wormian bones |
OMIM:138930 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Spontaneous, recurrent epistaxis, Hydrocephalus, Azoospermia, Pulmonary arterial hyp... |
ORPHA:2072 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, High-output congestive heart failure, Hydrocephalus, Congestive heart failure, Telangi... |
ORPHA:137667 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Large posterior fontanelle, Bradycardia, Macroorchidism, Umbilical hernia, Delayed cranial suture... |
ORPHA:90674 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Urticaria, Interstitial pneumon... |
ORPHA:37042 |
D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Large fontanelles, Delayed cranial suture closure, Ventricul... |
OMIM:261515 |
Truncus Arteriosus |
|
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Ab... |
ORPHA:3384 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Iniencephaly |
|
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Hydrocephalus, Myelome... |
ORPHA:63259 |
Cdags Syndrome |
|
Hypospadias, Sagittal craniosynostosis, Large fontanelles, Rectovaginal fistula, Lambdoidal crani... |
OMIM:603116 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Limited elbow movement, Sagittal craniosyno... |
ORPHA:221120 |
Menkes Disease |
|
Intracranial hemorrhage, Wormian bones |
OMIM:309400 |
Oeis Complex |
|
Omphalocele, Congenital hip dislocation, Bifid uterus, Cryptorchidism, Hydrocephalus, Myelomening... |
OMIM:258040 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Dilated cardiomyopathy, Facial diplegia, Reduced left ventricu... |
ORPHA:254892 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:248370 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... |
ORPHA:2255 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Inguinal hernia, Hypospadias, Cubitus valgus, Premature osteoarthritis, Lar... |
OMIM:611962 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Mitral stenosis, Hypospadias, Hydrocephalus, Patellar dislocation, Hernia, Wormi... |
ORPHA:955 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Ulnar deviation of the wrist, Elbow contracture, Knee flexion contracture |
OMIM:618162 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Adipose tissue loss, Oligozoospermia, Telangie... |
ORPHA:125 |
Costello Syndrome |
|
Limited elbow movement, Wide anterior fontanel, Achilles tendon contracture, Hydrocephalus, Hyper... |
OMIM:218040 |
Bruck Syndrome |
|
Wormian bones, Arthrogryposis multiplex congenita, Pterygium |
ORPHA:2771 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Gastrointestinal stroma tumor, Myocarditis, Erythema, R... |
ORPHA:221 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi... |
ORPHA:2322 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Dysplast... |
OMIM:620067 |
Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Wormian bones, Umbilical hernia, Limitation of knee mobility, Dislocat... |
OMIM:614856 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Abnormality of the knee, Respiratory distress, Calcification of the auri... |
ORPHA:51608 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion |
OMIM:617300 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Abnormal heart morphology |
ORPHA:268943 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Prominent nose, Erythema, Respiratory acidos... |
OMIM:614748 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Heart murmur, Intracranial hemorrhage, Micropenis |
ORPHA:163979 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Bifid scrotum, Hypospadias, Congestive heart failure, Hydrocephalus, Large ... |
OMIM:619475 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Inguinal hernia, Shoulder flexion contracture, Protrusio acetabuli, Elbow disloc... |
ORPHA:800 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Retinal hamartoma, Noncommunicating hydrocephalus, Hypertension, Ch... |
ORPHA:805 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate mor... |
OMIM:620294 |
Biotinidase Deficiency |
|
Respiratory distress, Myelopathy, Apnea, Hyperventilation |
ORPHA:79241 |
Icf Syndrome |
|
Communicating hydrocephalus, Umbilical hernia |
ORPHA:2268 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Bifid scrotum, Inguinal hernia, Spina bifida, Bifid uterus, Cryptorchidism, Hydrocep... |
ORPHA:322 |
Plague |
|
Tachycardia, Hematemesis, Abnormality of the elbow, Arthritis, Hypotension, Arrhythmia |
ORPHA:707 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... |
ORPHA:31204 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Sotos Syndrome |
|
Hip contracture, Aganglionic megacolon, Ventricular septal defect, Ankle flexion contracture, Abn... |
ORPHA:821 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Inguinal hernia |
ORPHA:2306 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones |
OMIM:619638 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Genu valgum, Hypertension |
OMIM:162200 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Peripapill... |
OMIM:175780 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus, Mitral stenosis |
OMIM:231005 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Ovarian neoplasm |
ORPHA:65285 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Hypoplastic labia minora, Metopic suture patent to nasal root, Hypopl... |
OMIM:269150 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus tract, Sacral lipoma |
OMIM:600145 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Large fontanell... |
ORPHA:2211 |
Pmm2-Cdg |
|
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Respiratory distress, Anteverted n... |
ORPHA:79318 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:256810 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Cardiomegaly, Arthritis, Prolonged neonatal jaundice, Hypertrophic cardiomyopath... |
ORPHA:51 |
Trisomy 10P |
|
Wide cranial sutures, Abnormal auditory evoked potentials, Rectovaginal fistula, Camptodactyly, A... |
ORPHA:171929 |
Alg9-Cdg |
|
Omphalocele, Prominent metopic ridge, Tricuspid regurgitation, Lipodystrophy, Wide anterior fonta... |
ORPHA:79328 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Premature thelarche, Cryptorchidism, Hydrocephalus... |
OMIM:147920 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Elbow contracture, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Conge... |
OMIM:208150 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Inguinal hernia, Cryptorchidism, Heart murmur, Micropenis, Delayed cranial suture closure |
OMIM:618653 |
Fraser Syndrome 3 |
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Hydrocephalus, Hypoplasia of penis, Small scrotum |
OMIM:617667 |
Methylmalonic Aciduria, Cblb Type |
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Respiratory distress |
OMIM:251110 |
Osteootohepatoenteric Syndrome |
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Hydrocephalus |
OMIM:619377 |
Colchicine Poisoning |
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Respiratory distress, Myocarditis, Cardiorespiratory arrest |
ORPHA:31824 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Delayed cranial suture closure |
ORPHA:93324 |
Postinfectious Vasculitis |
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Palpable purpura, Cutis marmorata, Pneumonia, Arthritis, Cardiomyopathy, Vasculitis in the skin, ... |
ORPHA:48435 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Hypoplasminogenemia |
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Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... |
ORPHA:722 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Craniosynostosis, Portal hypertension, Cryptorchidism, Absence of subcutaneous fat, Pulmonary art... |
OMIM:620005 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, M... |
OMIM:107480 |
Methylmalonic Aciduria, Cbla Type |
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Respiratory distress |
OMIM:251100 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Respiratory distress, Death in infancy, Jaundice |
OMIM:617156 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Apnea, Dyspnea, Dilated cardiomyopathy, Episodic respiratory distress, Hypertrophic cardiomyopath... |
ORPHA:255210 |
Osteogenesis Imperfecta, Type Xi |
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Protrusio acetabuli, Wormian bones, Dentinogenesis imperfecta |
OMIM:610968 |
Autosomal Recessive Cutis Laxa Type 1 |
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Inguinal hernia, Abnormal cardiac ventricular function, Congestive heart failure, Wide anterior f... |
ORPHA:90349 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
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Wormian bones, Atrophic scars, Joint subluxation, Hip dislocation |
OMIM:617821 |
Legius Syndrome |
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Paroxysmal atrial tachycardia, Ovarian neoplasm, Multiple lipomas, Vestibular schwannoma, Male ur... |
ORPHA:137605 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
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Delayed cranial suture closure |
ORPHA:1129 |
Fanconi Anemia, Complementation Group L |
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Hydrocephalus, Aplasia of the uterus, Micropenis |
OMIM:614083 |
Osteogenesis Imperfecta, Type Xviii |
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Wormian bones, Umbilical hernia |
OMIM:617952 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Hypogonadism |
ORPHA:3042 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
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Arthropathy, Arthritis, Wormian bones, Large fontanelles |
OMIM:259100 |
Heterotaxy, Visceral, 5, Autosomal |
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Right atrial isomerism, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Partial ... |
OMIM:270100 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Micropenis, Metopic synostosis, Ventriculomegaly |
ORPHA:457359 |
Gitelman Syndrome |
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Pericardial effusion, Chondrocalcinosis, Respiratory distress, Gout |
ORPHA:358 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Wormian bones, Wide anterior fontanel |
ORPHA:85184 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid stern... |
ORPHA:63260 |
Menkes Disease |
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Gastrointestinal hemorrhage, Inguinal hernia, Tarsal synostosis, Atypical scarring of skin, Intra... |
ORPHA:565 |
Goodpasture Syndrome |
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Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Limb Body Wall Complex |
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Ventral hernia, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Hydrocephalus, Myel... |
ORPHA:2369 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Osteogenesis Imperfecta, Type Xxi |
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Wormian bones |
OMIM:619131 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
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Delayed cranial suture closure |
OMIM:613038 |
Occipital Horn Syndrome |
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Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Large fontanelles, Hip dislocation, Gen... |
ORPHA:198 |
Cystinosis, Nephropathic |
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Male infertility, Retinal pigment epithelial mottling, Genu valgum, Pigmentary retinopathy, Male ... |
OMIM:219800 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Wormian bones, Flexion contracture, Large fontanelles |
ORPHA:90153 |
Autosomal Dominant Cutis Laxa |
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Aortic regurgitation, Inguinal hernia, Genu recurvatum, Congestive heart failure, Hip dislocation... |
ORPHA:90348 |
Loeys-Dietz Syndrome 1 |
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Hydrocephalus, Craniosynostosis, Camptodactyly |
OMIM:609192 |
Osteogenesis Imperfecta, Type Xvi |
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Wormian bones |
OMIM:616229 |
Split Cord Malformation |
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Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening... |
ORPHA:573278 |
Osteogenesis Imperfecta, Type Xx |
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Wormian bones |
OMIM:618644 |
Frank-Ter Haar Syndrome |
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Wormian bones, Wide anterior fontanel, Delayed cranial suture closure, Camptodactyly |
OMIM:249420 |
Osteogenesis Imperfecta, Type Viii |
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Wormian bones, Wide anterior fontanel, Inguinal hernia, Dentinogenesis imperfecta |
OMIM:610915 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Loeys-Dietz Syndrome 2 |
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Inguinal hernia, Protrusio acetabuli, Craniosynostosis, Hydrocephalus, Camptodactyly, Umbilical h... |
OMIM:610168 |
Heterotaxy, Visceral, 8, Autosomal |
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Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Hydrocephalus, Genu valgum, Mitral regurgitation, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:363700 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Tricuspid regurgitation, Flexion contracture, Genu valgum, Generalized lipodystrophy, Mitral regu... |
OMIM:619127 |
Alström Syndrome |
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Respiratory distress, Abnormality of dental color, Dorsocervical fat pad, Short toe, Recurrent up... |
ORPHA:64 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypospadias, Cervical C2/C3 vertebral fusion, Congestive heart failure, Wormian bones, Pulmonary ... |
ORPHA:444077 |
Osteogenesis Imperfecta, Type Iv |
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Wormian bones, Dentinogenesis imperfecta |
OMIM:166220 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Leptospirosis |
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Respiratory distress, Pericarditis, Jaundice, Cough, Pleural effusion |
ORPHA:509 |
Osteogenesis Imperfecta, Type I |
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Wormian bones, Dentinogenesis imperfecta |
OMIM:166200 |
Osteogenesis Imperfecta, Type Vii |
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Wide cranial sutures, Protrusio acetabuli, Wide anterior fontanel, Wormian bones, Dentinogenesis ... |
OMIM:610682 |
Holoprosencephaly 1 |
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Single ventricle, Aplasia of the nose, Proboscis, Median cleft lip and palate |
OMIM:236100 |
Ayme-Gripp Syndrome |
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Radioulnar synostosis, Pericarditis, Delayed cranial suture closure, Camptodactyly |
OMIM:601088 |
Noonan Syndrome 1 |
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Male infertility, Hypospadias, Cryptorchidism, Synovitis, Hypogonadism, Pulmonic stenosis, Cubitu... |
OMIM:163950 |
Yunis-Varon Syndrome |
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Wide cranial sutures, Congenital hip dislocation, Hypospadias, Cryptorchidism, Hip dislocation, L... |
OMIM:216340 |