Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... |
OMIM:124490 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear |
ORPHA:3230 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... |
ORPHA:705 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Cleft palate, Overfolded helix, Underdeveloped tragus, Short nose,... |
ORPHA:79113 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Femoral-Facial Syndrome |
|
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Long penis, Short nose, Ve... |
ORPHA:1988 |
Monosomy 9P |
|
Abnormal antihelix morphology, High palate, Cleft palate, Abnormality of the dentition, Depressed... |
ORPHA:261112 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Convex nasal ridge, Abnormal reticulocy... |
ORPHA:2522 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Narr... |
ORPHA:3236 |
Ear-Patella-Short Stature Syndrome |
|
Cleft palate, Craniosynostosis, Anotia, Breast aplasia, Abnormal epiphysis morphology, Hypoplasia... |
ORPHA:2554 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Acrofacial Dysostosis, Cincinnati Type |
|
Flared lower limb metaphysis, Ablepharon, Cleft palate, Microtia, Retrognathia, Micrognathia, Fem... |
OMIM:616462 |
Acrootoocular Syndrome |
|
Pectus excavatum, Cutaneous syndactyly, Delayed eruption of teeth, Pseudopapilledema, Downslanted... |
ORPHA:2980 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Branchial fistula, Abnormality ... |
ORPHA:861 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Pectus excavatum, Delayed eruption of teeth, Pseudopapilledema, Downslanted palpebra... |
OMIM:264475 |
Van Maldergem Syndrome 2 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the corpus callosum, Hypoplasia o... |
OMIM:615546 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Narrow mouth, 2-3 toe syndactyly, Cleft palate, M... |
OMIM:239800 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Cryptorchidism, Cleft palate, Microtia, Micrognathia, Abnormalit... |
ORPHA:3429 |
Nager Syndrome |
|
Wide mouth, Cleft palate, Hypoplasia of the radius, Downslanted palpebral fissures, Sparse lower ... |
ORPHA:245 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2549 |
Van Maldergem Syndrome 1 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the corpus callosum, Hypoplasia o... |
OMIM:601390 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Bulbous nose, Absent eyebrow, Cleft palate, Microt... |
ORPHA:2316 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Absent eyebrow, Cleft palate, Microtia, Retrognath... |
OMIM:147770 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Bulbous nose, Cleft palate, Retrognathia, Microcephaly, Atresia of the external audit... |
OMIM:619981 |
Branchiootorenal Syndrome 1 |
|
High palate, Cleft palate, Branchial fistula, Congenital hip dislocation, Microdontia, Renal stea... |
OMIM:113650 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Abnormal lacrimal duct morphology, Renal hypoplasia/aplas... |
ORPHA:107 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, High palate, Bulbous nose, Flexion contracture, Everted lower li... |
OMIM:616549 |
Monosomy 22 |
|
High palate, Short neck, Open mouth, Joint swelling, Clinodactyly of the 5th finger, Retrognathia... |
ORPHA:96123 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Right aortic arch with mirror image branching, Pulmonary artery atresia |
OMIM:606217 |
Branchiooculofacial Syndrome |
|
Malrotation of colon, Cleft palate, Overfolded helix, Abnormality of the dentition, Broad nasal t... |
OMIM:113620 |
Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Depressed nasal bridge, Short philtrum, Short neck, Optic atrophy, Downslanted palp... |
OMIM:601808 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Meier-Gorlin Syndrome 1 |
|
High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Microdontia, Pectus carinatum, Ge... |
OMIM:224690 |
Lateral Meningocele Syndrome |
|
High palate, Pectus excavatum, Short neck, Downslanted palpebral fissures, Umbilical hernia, High... |
ORPHA:2789 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Abnormal antihelix morphology, Bulbous nose, Long nose, Thyroid hypoplasia, Thyroid agenesis, Neo... |
ORPHA:3047 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis, Hearing impairment |
OMIM:235740 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Conductive hearing impairment, Dislocated radial head, Narrow mouth, Flexion contrac... |
OMIM:602471 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Short nose, Enamel agenesis... |
OMIM:614701 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea |
OMIM:166780 |
Cardiospondylocarpofacial Syndrome |
|
Wide mouth, Bulbous nose, Cone-shaped epiphysis, Horseshoe kidney, Delayed skeletal maturation, H... |
OMIM:157800 |
Congenital Heart Defects, Multiple Types, 7 |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmonary collateral arte... |
OMIM:618780 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Nephrolithiasis, Abnormality of the kidney, Prominent metopic ridge, Short philtrum, Congenital h... |
ORPHA:521445 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ankyloblepharon, Cleft palate, Hypoplasia of the maxilla, Conical tooth, Selective tooth agenesis... |
OMIM:106260 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Dental malocclusion, Joint contracture of the hand, Malar flatteni... |
OMIM:608257 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Sensorineural hearing impairment, Aplasia of the inner ear, Supernumerary tooth, Hypodontia, Micr... |
ORPHA:90024 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Slender finger, Cleft palate, Overfolded helix, Downslanted palpebral fissures, Short nose, Micro... |
OMIM:610536 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Microtia, Abnormality of the ureter, Brachydactyly, Low-s... |
ORPHA:1770 |
Acrofacial Dysostosis 1, Nager Type |
|
Wide mouth, Absent thumb, Cleft palate, Hypoplasia of the radius, Polymicrogyria, Radioulnar syno... |
OMIM:154400 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Depressed nasal bridge, Congenital hip dislocation, Hypoplastic pelvis, Thyroid hypoplasia, Umbil... |
OMIM:308050 |
Mosaic Trisomy 14 |
|
High palate, Ectopic anus, Wide mouth, Narrow chest, Hypoplasia of penis, Cleft palate, Microtia,... |
ORPHA:1703 |
Pallister-Hall Syndrome |
|
Cleft palate, Decreased circulating cortisol level, Hemivertebrae, Depressed nasal bridge, Y-shap... |
OMIM:146510 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... |
OMIM:610706 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Malar flattening, Reduced bone mine... |
ORPHA:1488 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality |
OMIM:300425 |
Autism |
|
Motor stereotypy, EEG abnormality |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality |
OMIM:608636 |
Otofaciocervical Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, High palate, Renal ... |
ORPHA:2792 |
Warsaw Breakage Syndrome |
|
Hearing impairment, Cupped ear, Hypoplasia of the cochlea, Optic disc coloboma |
OMIM:613398 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Cleft palate, Short mandibular rami, Microtia, Oral cleft, Atresia... |
OMIM:141400 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Isotretinoin-Like Syndrome |
|
Thin anteverted nares, Cleft palate, Microtia, Upslanted palpebral fissure, Micrognathia, Microce... |
ORPHA:2306 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Cleft palate, Thyroid hypoplasia, Umbilical hernia, Encephalocele, Anal atresia, Hypoplasia of pe... |
ORPHA:2166 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... |
OMIM:265000 |
Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Short distal phalanx of... |
OMIM:609166 |
Pallister-Hall Syndrome |
|
Macrocephaly, Central adrenal insufficiency, Cleft palate, Depressed nasal ridge, Hemivertebrae, ... |
ORPHA:672 |
Mycophenolate Mofetil Embryopathy |
|
Microtia, Tracheomalacia, Micrognathia, Tracheoesophageal fistula, Anotia, Bifid nose, Agenesis o... |
ORPHA:268249 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Dental crowding, Wide mouth, Macrocephaly, Pectus excavatum, Triangular mouth, Hypoplastic sacrum... |
OMIM:268310 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Macrocephaly, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short... |
OMIM:213980 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus |
ORPHA:1455 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Acrocraniofacial Dysostosis |
|
Abnormal pinna morphology, Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal... |
ORPHA:949 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... |
OMIM:305620 |
Lambotte Syndrome |
|
Narrow mouth, Convex nasal ridge, Retrognathia, Microcephaly, Atresia of the external auditory ca... |
OMIM:245552 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Depressed nasal bridge, Macrodontia, Optic atrophy, Hypoplasia of the ... |
ORPHA:1106 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Renal hypoplasia/aplasia, Sprengel a... |
ORPHA:2345 |
Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Microtia, Upslanted p... |
OMIM:248910 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Hypoplastic sacrum, Cleft palate, Tracheoesophageal fistula, Depressed nasal tip, A... |
OMIM:614083 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Symphalangism affecting t... |
ORPHA:2990 |
Neurofaciodigitorenal Syndrome |
|
Low-set ears, Hypoplasia of the premaxilla, Pectus excavatum, Downslanted palpebral fissures, Epi... |
ORPHA:2673 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Abnormal nasolacri... |
ORPHA:52429 |
Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Macrocephaly, Pectus excavatum, Abnormality of the dentition, Short philtrum, Short n... |
ORPHA:1507 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Microcephaly, Crossed fused renal ectopia, Bifid nose, A... |
ORPHA:2213 |
Vacterl With Hydrocephalus |
|
Anal atresia, Renal hypoplasia/aplasia, Retrognathia, Hemivertebrae, Micrognathia, Anotia, Hypopl... |
ORPHA:3412 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Osteopenia, Short neck, Downslanted palpebral fissures, Vertebral segm... |
OMIM:611209 |
Sifrim-Hitz-Weiss Syndrome |
|
Macrocephaly, Tapered finger, Anteriorly placed anus, Short palpebral fissure, Hypogonadotropic h... |
OMIM:617159 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Pectus excavatum, Attached earlobe, Depressed nasal bridge, Pectus carinatum, Short ... |
ORPHA:1327 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Macrocephaly, Cleft palate, Depressed nasal bridge, Abnormality of the ureter, Short neck, Umbili... |
ORPHA:2311 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Velopharyngeal insufficiency, Malar flattening, Everted upper l... |
OMIM:182290 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
High palate, Macrocephaly, Depressed nasal bridge, Short philtrum, Pectus carinatum, Open mouth, ... |
OMIM:617796 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, Short neck, 11 pairs of rib... |
OMIM:108720 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude |
OMIM:613641 |
Schinzel-Giedion Syndrome |
|
High palate, Wide mouth, Abnormal clavicle morphology, Abnormal helix morphology, Infantile senso... |
ORPHA:798 |
Fraser Syndrome 1 |
|
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Cleft ala nasi, Abnormality of t... |
OMIM:219000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Horseshoe kidney, Patellar dislocation, Clinodactyl... |
ORPHA:3320 |
Kbg Syndrome |
|
Cleft palate, Cutaneous syndactyly, Short neck, Bilateral conductive hearing impairment, Finger c... |
ORPHA:2332 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
High palate, Osteopenia, Short neck, Hammertoe, Umbilical hernia, Cervical C2/C3 vertebral fusion... |
OMIM:618000 |
Crouzon Syndrome |
|
Conductive hearing impairment, Coronal craniosynostosis, Shallow orbits, Atresia of the external ... |
OMIM:123500 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Cervi... |
OMIM:214300 |
Aarskog-Scott Syndrome |
|
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... |
ORPHA:915 |
Middle Ear Neuroendocrine Tumor |
|
Sensorineural hearing impairment, Carcinoid tumor, Abnormality of the auditory canal, Neuroendocr... |
ORPHA:100084 |
Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Macrocephaly, Cleft palate, Depressed nasal bridg... |
ORPHA:485 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Depressed nasal bridge, Pectus carinatum, Radioulnar synostosis, Short nose, Um... |
ORPHA:171839 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
Craniodiaphyseal Dysplasia |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy |
ORPHA:1513 |
Deafness, Autosomal Dominant 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Vesicoureteral reflux |
OMIM:605192 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Optic disc coloboma, Renal dysplasia, Optic nerve dysplasia, Renal ... |
ORPHA:1475 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Apert Syndrome |
|
Ovarian neoplasm, Cleft palate, Depressed nasal bridge, Delayed eruption of teeth, Optic atrophy,... |
ORPHA:87 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Cleft palate, Bilateral conductive hearing impairment, Abnormality of the ankl... |
ORPHA:2010 |
Craniofacial Microsomia |
|
Wide mouth, Cleft palate, Hemivertebrae, Maxillozygomatic hypoplasia, Anotia, Underdeveloped trag... |
OMIM:164210 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Sprengel anomaly, Duodenal atresia, Butterfly vertebrae, Pectus excavatum, Retrognathia, Unilater... |
OMIM:619227 |
Koolen-De Vries Syndrome |
|
Bulbous nose, Pectus excavatum, Cleft palate, Overfolded helix, Abnormality of the dentition, Mic... |
ORPHA:96169 |
Au-Kline Syndrome |
|
High palate, Overlapping toe, Pectus excavatum, Cleft palate, Craniosynostosis, Microtia, Postaxi... |
OMIM:616580 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Conductive hearing impairment, Kyphosis, Clinodactyly of the 5th finger, Poster... |
ORPHA:1393 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment, Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231183 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Ectopic anus, Microretrognathia, Cleft palate, Microtia, Arachnod... |
ORPHA:2994 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, External ear malformation, Ectopic kidney |
OMIM:179280 |
14Q22Q23 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Delayed skeletal maturation, Clinodactyly of the 5th finger, Micr... |
ORPHA:264200 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Microcephaly, Broad nasal tip, Scoliosis, Optic atrophy, Fused cervical vertebrae, ... |
ORPHA:530983 |
Diamond-Blackfan Anemia 10 |
|
Low-set ears, Conductive hearing impairment, Steroid-responsive anemia, Malar flattening, Microti... |
OMIM:613309 |
Temple Syndrome |
|
High palate, Recurrent otitis media, Relative macrocephaly, Flexion contracture, Cleft palate, Ma... |
OMIM:616222 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Cleft palate, Ureteral obstruction, Limitatio... |
ORPHA:1826 |
Zttk Syndrome |
|
High palate, Macrocephaly, Sparse eyebrow, Craniosynostosis, Hemivertebrae, Abnormality of the de... |
OMIM:617140 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Narrow mouth, Macrocephaly, Cleft palate, Microtia, Micrognathia, ... |
ORPHA:398156 |
6Q16 Microdeletion Syndrome |
|
Bulbous nose, Macrocephaly, Thick eyebrow, Microtia, Retrognathia, Micrognathia, Depressed nasal ... |
ORPHA:171829 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Absent thumb, Cleft palate, Hypoplasia of the radius, Stenosis o... |
OMIM:614900 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Short phi... |
OMIM:186500 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment |
OMIM:184460 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Narrow mouth, Malar flattening, Prominence of the premaxilla, Depressed nasal ridge, Abnormality ... |
ORPHA:2412 |
Wolf-Hirschhorn Syndrome |
|
Cleft palate, Short philtrum, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Downslanted pa... |
ORPHA:280 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Spastic diplegia, Motor stereotypy, Hypsarrhythmia |
OMIM:617830 |
Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis |
OMIM:219050 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Anotia, Cleft palate, Microtia |
OMIM:243440 |
Doors Syndrome |
|
High palate, Bulbous nose, Macrodontia of permanent maxillary central incisor, Cleft palate, Hemi... |
ORPHA:79500 |
Kbg Syndrome |
|
Cutaneous syndactyly, Short neck, Macrodontia, Downslanted palpebral fissures, Tented upper lip v... |
OMIM:148050 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231169 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Macrocephaly, Slender finger, Depressed nasal bridge, Delayed eruption o... |
OMIM:619503 |
Aicardi Syndrome |
|
Hiatus hernia, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the cerebellum, Optic disc col... |
ORPHA:50 |
20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Macrocephaly, Malar flattening, Microtia, Depressed nasal bridge, Broad hallux phal... |
ORPHA:261295 |
Apert Syndrome |
|
Cleft palate, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Shallow orbits, Del... |
OMIM:101200 |
16P13.11 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Wide mouth, Cleft upper lip, Pectus excavatum, Cryptorchidism, ... |
ORPHA:261236 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Pectus excavatum, Short neck, Hypoplasia of the corpus callosum, Hypermobility of ... |
ORPHA:508498 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment |
OMIM:185800 |
Wilson-Turner Syndrome |
|
Thick eyebrow, Microtia, Small hand, Hypogonadotropic hypogonadism, Micrognathia, Broad nasal tip... |
ORPHA:3459 |
3Mc Syndrome 2 |
|
Cleft palate, Craniosynostosis, Depressed nasal tip, Radioulnar synostosis, Downslanted palpebral... |
OMIM:265050 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries |
OMIM:231060 |
8Q22.1 Microdeletion Syndrome |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Depressed nasal ridge, Craniosynostosis... |
ORPHA:178303 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Congenital hip dislocation, Short 5th finger, Atresia of the exter... |
OMIM:133705 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Microtia, Long philtrum, Delayed eruption of teeth, Mild microce... |
OMIM:618761 |
Marshall-Smith Syndrome |
|
High palate, Pectus excavatum, Short sternum, Accelerated skeletal maturation, Slender finger, Cr... |
OMIM:602535 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
Distal Monosomy 17Q |
|
Narrow mouth, Microtia, Abnormal hip bone morphology, Small hand, Prominent metopic ridge, Aplasi... |
ORPHA:1597 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormality of the dentition, Chro... |
OMIM:221320 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
High palate, Short neck, Tapered finger, Downslanted palpebral fissures, Long eyelashes, Limb joi... |
ORPHA:505237 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Broad nasal tip, Cranium bifidum occultum, Hypoplasia of the maxilla, Widely... |
OMIM:136760 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Bulbous nose, Macrocephaly, Sparse eyebrow, Tapered finger, Downslanted pa... |
ORPHA:544488 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Facial diplegia, Cryptorchidism, Cerebral atrophy, Retrognathia, Micrognat... |
OMIM:611890 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Cleft palate, Micrognathia, Prominent nose, Macrotia, Supernumerar... |
OMIM:221950 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Pectus excavatum, Cleft palate, Depressed nasal bridge, Short neck, Microdontia, Tapered finger, ... |
OMIM:616734 |
Meier-Gorlin Syndrome 8 |
|
Narrow mouth, Microtia, Micrognathia, Microcephaly, Renal hypoplasia, Thick vermilion border, Low... |
OMIM:617564 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Anomalous pulmonary venous return, Right ventricular hypertrophy, Dextrotransposition of the grea... |
ORPHA:860 |
Lateral Meningocele Syndrome |
|
High palate, Pectus excavatum, Short neck, Biconcave vertebral bodies, Downslanted palpebral fiss... |
OMIM:130720 |
Elsahy-Waters Syndrome |
|
High palate, Bulbous nose, Pectus excavatum, Impacted tooth, Delayed eruption of teeth, Downslant... |
OMIM:211380 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,... |
OMIM:118100 |
Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Absent thum... |
OMIM:609053 |
Cornelia De Lange Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Short 1st metacarpal, Depressed nasal bridge, Short ... |
ORPHA:199 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Zechi-Ceide Syndrome |
|
Abnormal helix morphology, Cleft palate, Short philtrum, Sandal gap, Mandibular prognathia, Short... |
ORPHA:217017 |
Holoprosencephaly 9 |
|
Cleft palate, Depressed nasal bridge, Short philtrum, Underdeveloped tragus, Hypoplasia of the ma... |
OMIM:610829 |
Renpenning Syndrome |
|
Pectus excavatum, Cleft palate, Short philtrum, Macrodontia, Mandibular prognathia, Sprengel anom... |
ORPHA:3242 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:108760 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Abnormal metaphysis morphology, Irregular ... |
ORPHA:93316 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal cyst, Renal hypoplasia, Neonatal death, Abnormal pinna morphology |
OMIM:228940 |
Fraser Syndrome |
|
High palate, Depressed nasal bridge, Cleft ala nasi, Umbilical hernia, Encephalocele, Subglottic ... |
ORPHA:2052 |
Cerebrofaciothoracic Dysplasia |
|
Wide mouth, Macrocephaly, Cleft palate, Hemivertebrae, Short neck, Hypoplasia of the corpus callo... |
ORPHA:1394 |
Coxoauricular Syndrome |
|
Abnormality of femur morphology, Reduced bone mineral density, Microtia, Atresia of the external ... |
ORPHA:1508 |
Robinow Syndrome |
|
Macrocephaly, Triangular mouth, Broad alveolar ridges, Hemivertebrae, Broad nasal tip, Depressed ... |
ORPHA:97360 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism, Primary amenorrhea, Hearing... |
OMIM:244200 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Frontometaphyseal Dysplasia 2 |
|
High palate, Abnormal pinna morphology, Pectus excavatum, Cleft palate, Broad nasal tip, Short ph... |
OMIM:617137 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
OMIM:256690 |
Oocyte Maturation Defect 10 |
|
Female infertility, Miscarriage |
OMIM:619176 |
Diastrophic Dysplasia |
|
Macrocephaly, Abnormal clavicle morphology, Cleft palate, Overfolded helix, Depressed nasal bridg... |
ORPHA:628 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Sprengel anomaly, Neutropenia, Cleft palate, Osteopenia, Scoli... |
OMIM:612562 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Bulbous nose, Depressed nasal bridge, Short philtrum, Short neck, Downslanted palpebral fissures,... |
OMIM:618622 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... |
ORPHA:98807 |
Mullegama-Klein-Martinez Syndrome |
|
Sensorineural hearing impairment, Bulbous nose, Clinodactyly of the 5th finger, Cleft palate, Mic... |
OMIM:301022 |
19P13.3 Microduplication Syndrome |
|
Cleft palate, Short philtrum, Downslanted palpebral fissures, Hip subluxation, Precocious puberty... |
ORPHA:447980 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Intestinal malrotation, Atresia of the external aud... |
OMIM:243180 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Protruding ear, Widely-spaced incisors, Bulbous nose, Thick eyebrow, Upslanted palpebral fissure,... |
OMIM:618737 |
Lujan-Fryns Syndrome |
|
High palate, Protruding ear, Macrocephaly, Pectus excavatum, Arachnodactyly, Micrognathia, Campto... |
ORPHA:776 |
Ohdo Syndrome |
|
Sparse eyebrow, Depressed nasal bridge, Short nose, Proteinuria, Hypoplasia of teeth, Clinodactyl... |
OMIM:249620 |
Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, D... |
OMIM:201000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft palate, Hypoplasia of the corpus callosum, Polymicrogyria, Optic atrophy, Agyria, Pachygyri... |
OMIM:236670 |
Pfeiffer Syndrome Type 2 |
|
High palate, Cleft palate, Depressed nasal bridge, Short nose, Anal atresia, Tracheomalacia, Broa... |
ORPHA:93259 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Delayed proximal femoral epiphyseal ossification, De... |
ORPHA:226307 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Optic disc coloboma... |
OMIM:607872 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Unilateral renal agenesis, Low-set ears, Chronic kidney disease, Renal hypoplasia |
OMIM:617661 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Convex nasal ridge, Cleft palate, Hypoplasia of the ear cartilage, Micr... |
ORPHA:3305 |
Holoprosencephaly 2 |
|
Malar flattening, Microcephaly, Scoliosis, Bifid uvula, Proboscis, Cerebellar hypoplasia, Bilater... |
OMIM:157170 |
Barber-Say Syndrome |
|
Wide mouth, Abnormal pinna morphology, Bulbous nose, Ablepharon, Ectropion, Aplasia/Hypoplasia of... |
ORPHA:1231 |
Femoral-Facial Syndrome |
|
Abnormal pinna morphology, Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synos... |
OMIM:134780 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Convex nasal ridge, Malar flattening, Craniosynostosis, Microtia, ... |
ORPHA:2145 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Thick eyebrow, Cryptorchidism, High, narrow palate, Tracheomalac... |
OMIM:616368 |
Urban-Rogers-Meyer Syndrome |
|
Overfolded helix, Abnormality of the ureter, Short neck, Abnormal epiphysis morphology, Hypogonad... |
ORPHA:3409 |
Ravine Syndrome |
|
Ataxia, Spasticity, Abnormal auditory evoked potentials |
ORPHA:99852 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, High ... |
OMIM:618500 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
High palate, Downslanted palpebral fissures, Short nose, Long eyelashes, Hip subluxation, Horsesh... |
ORPHA:444077 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Macrocephaly, Platyspondyly, Shortening of all metacarpals, Wormian bones... |
OMIM:601356 |
Baller-Gerold Syndrome |
|
High palate, Cleft palate, Hypoplasia of the radius, Polymicrogyria, Hypoplasia of the ulna, Opti... |
OMIM:218600 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Temporomandibular joint ankylosis, Cryptorchidism, Slender finger, Micropenis, High, narrow palat... |
ORPHA:2872 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Wide mouth, Pectus excavatum, Limited pronation/supination of forearm, Depressed nasal bridge, Sh... |
ORPHA:163654 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Conductive hearing impairment, Wide mouth, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear |
OMIM:251800 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
High palate, Protruding ear, Clinodactyly of the 5th finger, Bulbous nose, Sparse eyebrow, Microt... |
OMIM:618829 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
3-Hydroxyisobutyric Aciduria |
|
Cerebral cortical atrophy, Microtia, Cerebral calcification, Hypogonadotropic hypogonadism, Micro... |
ORPHA:939 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Azoospe... |
OMIM:601076 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Narrow chest, Limited pronation/s... |
ORPHA:1724 |
Trisomy 8P |
|
Multiple joint contractures, Cleft palate, Short fourth metatarsal, Clinodactyly of the 4th toe, ... |
ORPHA:264450 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Short neck, Pectus carinatum, Abnormal epiphysis morphology, Mandi... |
ORPHA:3082 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Round ear, Deviation of finger, Epicanthus, Anteverted nares, Short no... |
ORPHA:1450 |
Craniosynostosis And Dental Anomalies |
|
High palate, Depressed nasal bridge, Delayed eruption of teeth, Broad hallux, Downslanted palpebr... |
OMIM:614188 |
Ablepharon Macrostomia Syndrome |
|
Wide mouth, Ablepharon, Cryptophthalmos, Hypoplasia of penis, Absent eyebrow, Microtia, Thin verm... |
ORPHA:920 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, D... |
ORPHA:794 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Type II diabetes mellitus, Narrow mouth, Splenomegaly, Upslanted palpe... |
ORPHA:1133 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Macrocephaly, Cleft palate, Abnormality of the ankles, Microdontia, Hypoplasia of th... |
ORPHA:1307 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Abnormal pinna morphology, Macrocephaly, Microretrognathia, Microtia, Short philtrum, Downslanted... |
OMIM:613603 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Facial diplegia, Cortical sclerosis, Macrocephaly, Diaphyseal sclerosis, Elevated... |
OMIM:122860 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Protruding ear, Macrocephaly, Camptodactyly of finger, Microcephaly, Tapered finger,... |
ORPHA:85279 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Trisomy 20P |
|
Abnormal antihelix morphology, Abnormality of the dentition, Abnormality of the ureter, Short nec... |
ORPHA:261318 |
Craniometaphyseal Dysplasia |
|
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Abnormal cranial n... |
ORPHA:1522 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Cleft palate, Severe B lymphocytopenia, B lymphocytopenia, Pancreatic hypoplasia,... |
ORPHA:83617 |
Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Cleft palate, Craniofacial asymmetry, Malrotation of small bowel, Shor... |
OMIM:194190 |
Cog1-Cdg |
|
High palate, Osteopenia, Short neck, Downslanted palpebral fissures, Short long bone, Vertebral s... |
ORPHA:263508 |
Chromosome 22Q11.2 Duplication Syndrome |
|
High palate, Abnormal pinna morphology, Velopharyngeal insufficiency, Depressed nasal ridge, Micr... |
OMIM:608363 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Hor... |
OMIM:274000 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the ulna, Aplasia/hypoplasia of the humerus, Upper limb phocomelia, Radial ... |
ORPHA:3312 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Delaye... |
OMIM:210720 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Rib fusion, Macrocephaly, Cleft ... |
ORPHA:261197 |
Sweeney-Cox Syndrome |
|
High palate, Cleft palate, Overfolded helix, Cutaneous syndactyly, Short philtrum, Bilateral cryp... |
OMIM:617746 |
Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Stenosis of the external a... |
OMIM:616367 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Macrocephaly, Upslanted palpebral fissure, Panhypopituitarism, Depr... |
OMIM:610828 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed... |
OMIM:616331 |
Arnold-Chiari Malformation Type I |
|
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abnormality of the twelfth ... |
ORPHA:268882 |
Bresek Syndrome |
|
Protruding ear, Optic nerve hypoplasia, Hypoplasia of the bladder, Neonatal death, Renal dysplasi... |
ORPHA:85284 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Sensorineural hearing impairment, Thick corpus callosum, Abnormality of the endocrine system, Gin... |
ORPHA:464288 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Vascular ring, Knee flexion contracture |
OMIM:603387 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism, Cerebral atrophy, Retrognathia, Finger clinodactyly, Osteoporosis, Epicanthus, Pa... |
ORPHA:2958 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Horseshoe kidney, Pal... |
OMIM:607323 |
Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, R... |
OMIM:615993 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Short mandibular rami, Microtia, Delayed eruption of teeth, Horner... |
OMIM:141300 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Depressed nasal bridge, Short neck, Downslanted palpebral fissures, HbH hemoglobin, ... |
OMIM:141750 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Hypoplastic nasal septum, Microtia, Aplasia/hypoplasia involvin... |
ORPHA:40366 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Micrognathia, Retrognathia, Glossoptosis, Bilateral cond... |
OMIM:615706 |
20Q11.2 Microduplication Syndrome |
|
Pectus excavatum, Depressed nasal bridge, Pectus carinatum, Downslanted palpebral fissures, Short... |
ORPHA:363659 |
Burn-Mckeown Syndrome |
|
Cleft palate, Short philtrum, Mandibular prognathia, Cleft upper lip, Short palpebral fissure, Un... |
OMIM:608572 |
Tarp Syndrome |
|
High palate, Pectus excavatum, Short sternum, Cleft palate, Hypoplasia of the radius, Cutaneous s... |
OMIM:311900 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Sparse eyebrow, Craniosynostosis, Abnormality of the dentition, Depressed nasal brid... |
OMIM:608156 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Macrocephaly, Cleft palate, Cerebral calcification, Delayed eruption of teeth, Abnormal metaphysi... |
ORPHA:2780 |
Acrocephalopolydactyly |
|
Genu recurvatum, Depressed nasal ridge, Microtia, Hepatosplenomegaly, Short neck, Brachydactyly, ... |
ORPHA:221054 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Malar flattening, Microtia, Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia ... |
ORPHA:357175 |
Trisomy 13 |
|
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... |
ORPHA:3378 |
Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Cleft palate, Absent proximal finger flexion creases, Short palpebral ... |
ORPHA:2839 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Myoclonus, Renal dysplasia, Tongue fasciculations, Renal cyst, Renal hypo... |
OMIM:614922 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Ataxia, Abnormality of s... |
ORPHA:320401 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Malar flattening, Microtia, Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia ... |
OMIM:615162 |
Moebius Syndrome |
|
High palate, Facial diplegia, Abnormal pinna morphology, Abnormality of the dentition, Depressed ... |
OMIM:157900 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... |
OMIM:263540 |
Bosma Arhinia Microphthalmia Syndrome |
|
High palate, Conductive hearing impairment, Abnormal pinna morphology, Dental malocclusion, Lacri... |
OMIM:603457 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Ureteral obstruction, Downslante... |
ORPHA:90652 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Malar flattening, Microtia, Cleft palate, Micrognathia, Downslante... |
OMIM:248390 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Metaphyseal dysplasia, Relative macrocephaly, Decreased response to growth hormone stimulation te... |
OMIM:618336 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Hearing impairment, Pseudopapilledema, Abnormality of the outer ear |
OMIM:314600 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Macrocephaly, Cleft palate, Upslanted palpebral fissure, Microceph... |
ORPHA:1797 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter, Short neck, Abnormality of the spleen, Low-set, posterior... |
ORPHA:2487 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Wide mouth, Narrow mouth, Malar flattening, Microtia, Cleft palate... |
OMIM:154500 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Microtia, Micrognathia, Camptodactyly of finger, Hydroureter, Abnormality of... |
ORPHA:2547 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Patent ductus arteriosus, Vascular ring |
OMIM:601927 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Abnormality of the middle ear, Supernumerary nipple, Malar flatten... |
ORPHA:246 |
Fg Syndrome Type 1 |
|
High palate, Wide mouth, Malrotation of colon, Macrocephaly, Craniosynostosis, Limited elbow exte... |
ORPHA:93932 |
Fibrodysplasia Ossificans Progressiva |
|
Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... |
OMIM:135100 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:613854 |
Chromosome 16Q22 Deletion Syndrome |
|
High palate, Depressed nasal bridge, Short neck, Broad hallux, Short palpebral fissure, Micrognat... |
OMIM:614541 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Low-set ears, Cerebral atrophy, Cleft palate, Brachydactyly, Hypo... |
OMIM:614261 |
Axial Mesodermal Dysplasia Spectrum |
|
Tracheoesophageal fistula, Abnormality of the ureter, Short neck, Vertebral segmentation defect, ... |
ORPHA:1834 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent thumb, Cleft palate, Sparse eyebrow, Hemivertebrae, Short philtrum, Depressed nasal bridge... |
ORPHA:500150 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Motor stereotypy, Low-set, posteriorly rotated ears, Hypogonadism |
ORPHA:3306 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia |
OMIM:619150 |
Schilbach-Rott Syndrome |
|
2-3 toe cutaneous syndactyly, Narrow mouth, Microtia, 3-4 finger cutaneous syndactyly, Micrognath... |
OMIM:164220 |
Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Multiple pterygia, Joint dislocation, Flexion contracture, Cleft palate, Thin ri... |
OMIM:312150 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Microretrognathia, Upslanted palpebral fissure, Hypospadias, Abnorm... |
ORPHA:276422 |
Kapur-Toriello Syndrome |
|
Bulbous nose, Dysplastic corpus callosum, Hypoplasia of penis, Pachygyria, Intestinal malrotation... |
ORPHA:2328 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Wide mouth, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Microdontia, Short nose, Long eye... |
OMIM:156200 |
Cri-Du-Chat Syndrome |
|
High palate, Abnormal pinna morphology, Short philtrum, Short neck, Optic atrophy, Downslanted pa... |
OMIM:123450 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Low-set ears, S... |
OMIM:236500 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Kyphosis, Abnormal dental enamel morphology, Hypoplastic vertebral... |
ORPHA:2916 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... |
OMIM:619110 |
X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Clinodacty... |
ORPHA:163976 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormality of the urinary system, Abnormal peripheral ... |
ORPHA:90117 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Accelerated skeletal maturation, Elevated circulating parathyroid hormone level, D... |
ORPHA:439822 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Bulbous nose, Short philtrum, Depressed nasal tip, Primary microcephaly, Thick nasal alae, Abnorm... |
ORPHA:293725 |
Cohen Syndrome |
|
Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... |
ORPHA:193 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Protruding ear, Microcephaly, Broad eyebrow, Hypoplasia of the maxilla, Narrow palpebral fissure,... |
OMIM:618302 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment, Clinodactyly of the 5th finger |
ORPHA:3023 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Microtia, Open mouth, Broad nasal tip, Microcephaly, Recurrent upper respiratory tra... |
ORPHA:293939 |
Martsolf Syndrome 1 |
|
High palate, Pectus excavatum, Finger joint hypermobility, Broad nasal tip, Short philtrum, Depre... |
OMIM:212720 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Microtia |
|
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Abnormality of the dentition, Microcephaly, Scolio... |
ORPHA:3268 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, Facial diplegia, 2-3 toe syndactyly, Decreased sensory nerve conduction velocity, Fl... |
OMIM:218000 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Bulbous nose, Overfolded helix, Thoracic kyphoscoliosis, Pectus carinatum, Broad hal... |
ORPHA:481152 |
Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Pectus excavatum, Depressed nasal bridge, Broad finger, Delayed eruption... |
ORPHA:192 |
Smith-Magenis Syndrome |
|
Cleft palate, Depressed nasal bridge, Abnormality of the ureter, Short philtrum, Short nose, Tent... |
ORPHA:819 |
Deafness And Myopia |
|
Conductive hearing impairment, Profound hearing impairment, Hematuria, Proteinuria |
OMIM:221200 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
High palate, Convex nasal ridge, Hypoplasia of the ear cartilage, Arachnodactyly, Abnormality of ... |
ORPHA:1035 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Diabetic Embryopathy |
|
Vertebral segmentation defect, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Microtia, ... |
ORPHA:1926 |
Otopalatodigital Syndrome Type 1 |
|
Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Sandal gap, Bowing of the l... |
ORPHA:90650 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal pinna morphology, Protruding ear, Clinodactyly of the 5th finger, Hypoplasia of penis, A... |
ORPHA:3068 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Macroglossia... |
ORPHA:90674 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Sprengel anomaly, Bulbous nose, Macrocephaly, Malar flattening, Hemivertebrae, Depre... |
ORPHA:2180 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Short philtrum, Radioulnar synostosis, Hypoplasia of the ulna, Downslan... |
ORPHA:3258 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Hyperechogenic kidneys |
OMIM:617914 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal agenesis, Hearing impairment, Renal hypoplasia, Hydronephrosis, Recurrent otitis media, Low... |
OMIM:618494 |
Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Torus palatinus, Clavicular sclerosis, Abnormal form of the ver... |
ORPHA:2790 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Broad hallux, Genu valgum, Contracture of the proximal interphalangeal joint of the 5th finger, A... |
ORPHA:293967 |
Auriculocondylar Syndrome |
|
Abnormal pinna morphology, Abnormality of the crus of the helix, Macrocephaly, Cleft palate, Mand... |
ORPHA:137888 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sensorineural hearing impairment, Truncal ataxia, Kinetic tremor, Renal hypoplasia, Gait ataxia, ... |
OMIM:616817 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Abnormality o... |
ORPHA:96170 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia |
OMIM:618845 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Malabsorption, Coombs-positive hemolytic anemia... |
ORPHA:83471 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Stroke, Arterial fibromuscular dysplasia |
OMIM:135580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, High palate, Macrocephaly, Pectus excavatum, Furrowed tongue, Hypoplasia of the m... |
OMIM:300534 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Split-Hand/Foot Malformation 3 |
|
High palate, Abnormal pinna morphology, Narrow mouth, Microretrognathia, Cleft palate, Camptodact... |
OMIM:246560 |
Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... |
ORPHA:1435 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Hypsarrhythmia |
OMIM:616341 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Abnormal rib cage morphology, Unilateral renal agenesis, Hemivertebrae, Posteri... |
OMIM:608406 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Craniosynostosis, Osteopenia, Femoral bowing, Short neck, Platyspondyly, Depressed nasal bridge, ... |
OMIM:616723 |
Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Narrow mouth, Aplasia/Hypoplasia involving the nose, Lacrimal d... |
ORPHA:1529 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia, Upslanted palpebral fissure, Microcephaly, Hypoplasia of the maxilla, Decreased tes... |
ORPHA:93950 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy, EEG abnormality |
OMIM:300495 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Low-set, po... |
ORPHA:2972 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Hypogonadism |
OMIM:618681 |
Warburg-Cinotti Syndrome |
|
High palate, Flexion contracture of finger, Symblepharon, Osteolytic defects of the phalanges of ... |
OMIM:618175 |
Meier-Gorlin Syndrome 5 |
|
Cryptorchidism, Microtia, Micropenis, Micrognathia, Prominent metopic ridge, Microcephaly, Long p... |
OMIM:613805 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
High palate, Wide mouth, Pectus excavatum, Down-sloping shoulders, Downslanted palpebral fissures... |
OMIM:227330 |
1P36 Deletion Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Pyloric stenosis, Optic atrophy,... |
ORPHA:1606 |
Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Prolinuria, Motor stereotypy, Ataxia, Hyperglycinuria, EEG abnormality, Hyperp... |
OMIM:239500 |
Even-Plus Syndrome |
|
High palate, Epiphyseal dysplasia, Anal atresia, Dysplastic corpus callosum, Hypodontia, Depresse... |
OMIM:616854 |
Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Micrognathia, Hyperplasia of the maxilla, Depressed nasal bridge, Hypo... |
OMIM:617616 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Cleft palate, Microtia, Micrognathia, Downslanted palpebral fissur... |
OMIM:613717 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Cleft palate, Thin ribs, Micrognathia,... |
OMIM:253290 |
Koolen-De Vries Syndrome |
|
High palate, Bulbous nose, Pectus excavatum, Slender finger, Prominent fingertip pads, Cleft pala... |
OMIM:610443 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
High palate, Bulbous nose, Pectus excavatum, Short philtrum, Short neck, Tented upper lip vermili... |
ORPHA:247262 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Otitis media, Splenomegaly, Aplasia of the thymus, Eosinophilia, Abnormally low T ce... |
OMIM:602450 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Isotretinoin Syndrome |
|
Cleft palate, Microtia, Micrognathia, Depressed nasal bridge, Spina bifida occulta, Abnormality o... |
ORPHA:2305 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Aicardi Syndrome |
|
Hiatus hernia, Cleft palate, Hemivertebrae, Optic disc coloboma, Polymicrogyria, Optic atrophy, B... |
OMIM:304050 |
Cleft Velum |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Recurrent... |
ORPHA:99772 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Abnormal pinna morphology, Pectus excavatum, Craniosynostosis, Osteopenia, Shallow o... |
OMIM:182212 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Cleft palate, Overfolded helix, Radioulnar synostosis, Downslanted palpebral fissures, Abnormalit... |
ORPHA:436003 |
Ciliary Dyskinesia, Primary, 40 |
|
Congenitally corrected transposition of the great arteries, Right aortic arch, Patent ductus arte... |
OMIM:618300 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aor... |
ORPHA:3400 |
15Q Overgrowth Syndrome |
|
High palate, Macrocephaly, Craniosynostosis, Downslanted palpebral fissures, Horseshoe kidney, Ab... |
ORPHA:314585 |
Cleidocranial Dysplasia |
|
Macrocephaly, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping sh... |
ORPHA:1452 |
Asymmetric Short Stature Syndrome |
|
Convex nasal ridge, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae, Dental crowding |
OMIM:108450 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Anteriorly placed anus,... |
ORPHA:314679 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Bulbous nose, Cleft palate, Small finger, Hypoplasia of the maxilla, Delayed skeleta... |
OMIM:170390 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Pectus excavatum, Horizontal sacrum, Depressed nasal bridge, Pectus carinatum, Short... |
OMIM:211910 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal palate morphology, Conductive hearing impairment, Convex nasal ridge, Malar flattening, ... |
ORPHA:93262 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Conductive hearing impairment, Supernumerary tooth, Thick eyebrow, Prominent fingert... |
OMIM:617412 |
Malan Syndrome |
|
Gingival overgrowth, Narrow mouth, Macrocephaly, Accelerated skeletal maturation, Pectus excavatu... |
OMIM:614753 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Pectus excavatum, Cleft palate, Short neck, Downslanted palpebral fissures, S... |
OMIM:305400 |
Cousin Syndrome |
|
Cleft palate, Microtia, first degree, Absent proximal finger flexion creases, Clinodactyly of the... |
OMIM:260660 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Macrocephaly, Flexion contracture, Microtia, Neonatal death, Congenital pyloric atresia, Antevert... |
OMIM:612138 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Distal Tetrasomy 15Q |
|
Hydrocele testis, High palate, Abnormal helix morphology, Craniosynostosis, Horseshoe kidney, Fle... |
ORPHA:314588 |
Carey-Fineman-Ziter Syndrome 2 |
|
Protruding ear, Velopharyngeal insufficiency, High, narrow palate, Micrognathia, Scoliosis, Long ... |
OMIM:619941 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hemivertebrae, Depressed nasal bridge, Tapered finger, Short nose, HbH hemoglobin, Umbilical hern... |
OMIM:301040 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Macrocephaly, Pectus excavatum, Cleft palate, Overfolded helix, Broad ribs, Delayed ... |
OMIM:300373 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Convex nasal ridge, Cryptorchidism, Decreased response to growth hormone stimulation test, Microp... |
OMIM:241410 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Limb ataxia, Limb hypertonia, Hyperechogenic kidneys, Optic atrop... |
OMIM:617595 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the dentition, Abnormality of the ureter, Carious teeth, Downslanted palpebral fis... |
ORPHA:3253 |
Toluene Embryopathy |
|
Protruding ear, Cryptorchidism, Short palpebral fissure, Thin vermilion border, Micrognathia, Mic... |
ORPHA:1920 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Macroglossia, Delaye... |
ORPHA:90673 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Postaxial polydactyly, Micr... |
ORPHA:404440 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Abnormal pinna morphology, Absence of renal corticomedullary differentiation, Micropenis, Unilate... |
OMIM:617641 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Cleft palate, Craniosynostosis, Hemivertebrae, Barrel-shaped chest, Short neck, Pectus carinatum,... |
OMIM:178110 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Prominent nasal tip, Craniosynostosis, Microtia, Micrognathia, Cupped ear, Short philtrum, Upslan... |
OMIM:619873 |
Aminopterin Syndrome Sine Aminopterin |
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High palate, Macrocephaly, Cleft palate, Umbilical hernia, Micrognathia, Clinodactyly, Rudimentar... |
OMIM:600325 |
Megalocornea-Mental Retardation Syndrome |
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Large fleshy ears, High palate, Macrocephaly, Genu recurvatum, Cerebral cortical atrophy, Arachno... |
OMIM:249310 |
Codas Syndrome |
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Overfolded helix, Depressed nasal bridge, Congenital hip dislocation, Crumpled ear, Delayed erupt... |
ORPHA:1458 |
Aortic Aneurysm, Familial Thoracic 4 |
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Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... |
OMIM:132900 |
Short Stature And Facioauriculothoracic Malformations |
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High palate, Cleft upper lip, Pectus excavatum, Cleft palate, Microtia, Overfolded helix, Cupped ... |
OMIM:609654 |
Distal Monosomy 10P |
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Ectopic anus, Joint stiffness, Anal atresia, Clinodactyly of the 5th finger, Convex nasal ridge, ... |
ORPHA:1580 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Abnormal helix morphology, Joint contracture of the hand, Aminoaciduria, Cleft palate, Stippled c... |
OMIM:214110 |
Simpson-Golabi-Behmel Syndrome |
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Wide mouth, Macrocephaly, Abnormal helix morphology, Accelerated skeletal maturation, Cleft palat... |
ORPHA:373 |
Zimmermann-Laband Syndrome |
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High palate, Wide mouth, Bulbous nose, Cleft palate, Short neck, Downslanted palpebral fissures, ... |
ORPHA:3473 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
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Abnormal antihelix morphology, Conductive hearing impairment, Nephrogenic diabetes insipidus, Sup... |
ORPHA:3145 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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High palate, Macrocephaly, Pectus excavatum, Long nose, Short philtrum, Hypoplasia of the maxilla... |
OMIM:309520 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Sinusitis, Lymphopenia, Diffuse mesangial sclerosis, Aplasia of the thymus, Splenomegaly, Horizon... |
OMIM:102700 |
Kagami-Ogata Syndrome |
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Kyphoscoliosis, Short palpebral fissure, Flexion contracture, Microtia, Retrognathia, Micrognathi... |
OMIM:608149 |
17Q24.2 Microdeletion Syndrome |
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Short philtrum, Short neck, Abnormality of the ankles, Upper limb undergrowth, Downslanted palpeb... |
ORPHA:529962 |
Jeavons Syndrome |
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EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
Distal Monosomy 7Q36 |
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Wide mouth, Bulbous nose, Clinodactyly of the 5th finger, Pectus excavatum, Hypoplasia of penis, ... |
ORPHA:1636 |
Orofaciodigital Syndrome Xvii |
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Hearing impairment, Low-set ears, Renal hypoplasia, Micropenis |
OMIM:617926 |
Meier-Gorlin Syndrome 6 |
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Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Downslanted palpebral fissures, Shor... |
OMIM:616835 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Platyspondyly, Short ne... |
ORPHA:93267 |
Cree Mental Retardation Syndrome |
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Pectus excavatum, Cryptorchidism, Micrognathia, Hypospadias, Downslanted palpebral fissures, Apla... |
OMIM:606851 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Cholelithiasis, Renal tubular dysfunction, Wide anterior fontanel, Cerebral atrophy, Prominence o... |
OMIM:614886 |
Acrocallosal Syndrome |
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High palate, Wide mouth, Abnormal pinna morphology, Macrocephaly, Triangular mouth, Cleft palate,... |
OMIM:200990 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
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High palate, Frontal cortical atrophy, Attached earlobe, Short philtrum, Tapered fin |