Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Aurocephalosyndactyly |
|
4-5 toe syndactyly, Craniosynostosis, Hearing impairment |
OMIM:109050 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Summitt Syndrome |
|
Syndactyly, Oxycephaly, Obesity, Craniosynostosis |
OMIM:272350 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Brachycephaly, Thi... |
ORPHA:178377 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Deafness, Autosomal Dominant 85 |
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Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Craniosynostosis, Adelaide Type |
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Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
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Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
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Sensorineural hearing impairment, Craniosynostosis |
ORPHA:2866 |
Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
Trigonocephaly With Short Stature And Developmental Delay |
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Small for gestational age, Posteriorly rotated ears, Sagittal craniosynostosis, Premature posteri... |
OMIM:314320 |
Deafness, Progressive, With Stapes Fixation |
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Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
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Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Craniosynostosis 3 |
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Hallux valgus, Sagittal craniosynostosis, Left unicoronal synostosis, Right unicoronal synostosis... |
OMIM:615314 |
Craniosynostosis 1 |
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Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
Craniosynostosis, Philadelphia Type |
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Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
Symphalangism, Distal |
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Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... |
OMIM:185700 |
Symphalangism, Proximal, 1A |
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Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:185800 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
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Low-set, posteriorly rotated ears, Small for gestational age, Fifth finger distal phalanx clinoda... |
ORPHA:3369 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... |
OMIM:184460 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, G... |
ORPHA:3210 |
Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
Craniosynostosis 5, Susceptibility To |
|
Craniosynostosis |
OMIM:615529 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
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Frontal bossing, Optic atrophy, Orbital craniosynostosis, Dolichocephaly |
ORPHA:1538 |
Kleeblattschaedel |
|
Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Craniosynostosis 6 |
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Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Sensorineural ... |
OMIM:616602 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Short metacarpal, Hitchhiker thumb, Hearing impairment, Capitate-hamate fusion, Radial head sublu... |
OMIM:614078 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... |
OMIM:241520 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... |
OMIM:123150 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Muenke Syndrome |
|
Broad hallux, Hearing impairment, Capitate-hamate fusion, Clinodactyly, Sensorineural hearing imp... |
OMIM:602849 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Broad hallux phalanx, Broad hallux, Craniosynostosis, Trigonocephaly, 1-3 toe sy... |
OMIM:175700 |
Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Craniosynostosis, Lower limb undergrowth |
OMIM:218650 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Opti... |
ORPHA:1528 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Osteopenia, Craniosynostosis, Joint hypermobility, Hearing impairment |
OMIM:616721 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preax... |
ORPHA:380 |
Hypophosphatasia, Childhood |
|
Frontal bossing, Bowing of the legs, Craniosynostosis, Dolichocephaly |
OMIM:241510 |
Carpenter Syndrome |
|
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... |
ORPHA:65759 |
Cranioectodermal Dysplasia |
|
Frontal bossing, Finger syndactyly, Brachydactyly, Craniosynostosis, Osteoporosis, Prominent occi... |
ORPHA:1515 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Craniosynostosis, Low-set ears, Dolichocephaly, Clinodactyly of the 5th finger, ... |
ORPHA:1516 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly |
OMIM:614416 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Wormian bones, Craniosynostosis, Unicoronal synostosis, Brachyceph... |
OMIM:604757 |
Acrocraniofacial Dysostosis |
|
Triphalangeal thumb, Abnormality of the malleus, Conductive hearing impairment, Spina bifida occu... |
ORPHA:949 |
Craniofrontonasal Dysplasia |
|
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Cr... |
ORPHA:1520 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Toe syndactyly, Bowing of the long bones, Craniosynostosis, Large fontanelles, Brac... |
ORPHA:171839 |
Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Craniosynostosis, Scaphocephaly, Hip dislocation, Clubbing, Recurrent otitis media, ... |
OMIM:618523 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Plagiocephaly, Slender long bone, Decreased calvarial ossification, Decreased b... |
OMIM:618265 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Low-set ears |
OMIM:614732 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Osteopetrosis, Autosomal Recessive 1 |
|
Frontal bossing, Increased bone mineral density, Osteomyelitis, Femur fracture, Facial palsy, Cra... |
OMIM:259700 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Craniosynostosis, Hearing impairment, Hip dislocation, C... |
OMIM:619451 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Craniosynostosis, Brachycephaly, Low-set ears, Macrotia |
ORPHA:314575 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Craniosynostosis, Split hand, Brachycephaly, Abnormal antihelix ... |
ORPHA:2145 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... |
OMIM:186500 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Brachycephaly, ... |
OMIM:618736 |
Hunter-Mcalpine Craniosynostosis Syndrome |
|
Craniosynostosis |
OMIM:601379 |
Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, La... |
ORPHA:436 |
Autosomal Recessive Omodysplasia |
|
Frontal bossing, Abnormal morphology of the radius, Posteriorly rotated ears, Craniosynostosis, E... |
ORPHA:93329 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Optic atrophy, Increased susceptibility to fractures,... |
ORPHA:561 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,... |
OMIM:201000 |
Muenke Syndrome |
|
Tarsal synostosis, Sensorineural hearing impairment, Brachycephaly, Plagiocephaly, Cone-shaped ep... |
ORPHA:53271 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Hypoplastic pubic bone, Decreased calvarial ossification, Short clavicles, Low-se... |
OMIM:614592 |
Osteoglosphonic Dysplasia |
|
Failure to thrive in infancy, Craniosynostosis, Protruding ear, Abnormal bone ossification, Brach... |
ORPHA:2645 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Optic atrophy, Brachycephaly, Multiple suture craniosynostosis, Co... |
ORPHA:207 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Frontal bossing, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosy... |
OMIM:616723 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis |
ORPHA:88643 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Abnormal occipital bone morphology, O... |
ORPHA:73 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Overfolding of the superior helices, Hypoplastic ischia, Bowing of the legs, Metopic ... |
ORPHA:313855 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Small for gestational age, Bilateral sensorineural hearing impairment, ... |
OMIM:616943 |
Craniosynostosis And Dental Anomalies |
|
Flat occiput, Brachycephaly, Coronal craniosynostosis, Conductive hearing impairment, Chronic oti... |
OMIM:614188 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Abnormality of the ear, Cox... |
ORPHA:457395 |
X-Linked Intellectual Disability, Cilliers Type |
|
Macrotia, Small hand, Clinodactyly of the 5th finger, Coronal craniosynostosis, Failure to thrive |
ORPHA:163971 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis |
ORPHA:2117 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
16P13.11 Microduplication Syndrome |
|
Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydactyly, Dolichocephaly |
ORPHA:261243 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly o... |
ORPHA:83 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Posteriorly rotated ears, Craniosynostosis, Wide anterior fontanel, Brachycephaly, ... |
OMIM:601853 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Short distal phalanx of finger, Lambdoidal craniosynostosis, Coxa valga |
OMIM:601370 |
Saethre-Chotzen Syndrome |
|
Brachycephaly, Triphalangeal thumb, Conductive hearing impairment, Clinodactyly of the 5th finger... |
ORPHA:794 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Wide anterior fon... |
OMIM:207410 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
X-Linked Intellectual Disability, Van Esch Type |
|
Clinodactyly of the 5th finger, Coronal craniosynostosis, Failure to thrive, Microtia |
ORPHA:163976 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Frontal bossing, Posteriorly rotated ears, Craniosynostosis, Cupped ear, Microtia, Low-set ears |
OMIM:619873 |
Macrocephaly-Developmental Delay Syndrome |
|
Frontal bossing, Craniosynostosis, Scaphocephaly, Abnormal speech discrimination, Clinodactyly of... |
ORPHA:397612 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Me... |
OMIM:600775 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... |
ORPHA:2872 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,... |
ORPHA:615 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Sensorineural hearing impairment, ... |
OMIM:603116 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
EEG with polyspike wave complexes, Limb joint contracture, Failure to thrive in infancy, Craniosy... |
ORPHA:284417 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... |
ORPHA:356961 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Obesity, Microtia, Low-set ears, Joint hypermobility, Hearing impairment |
OMIM:619056 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... |
ORPHA:89936 |
Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Craniosynostosis |
OMIM:201550 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Lowry-Maclean Syndrome |
|
Craniosynostosis |
OMIM:600252 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... |
ORPHA:503 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Increased susceptibility to fractures, Decreased calvarial ... |
OMIM:241500 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Lambdoidal ... |
OMIM:616294 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Small for gestational age, Posteriorly rotated ears, Craniosynosto... |
OMIM:613174 |
Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, Protruding ear, Clinodactyly of th... |
ORPHA:96148 |
Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d... |
OMIM:180750 |
Seckel Syndrome |
|
Sandal gap, Craniosynostosis, Cachexia, Abnormal earlobe morphology, Cone-shaped epiphysis, Joint... |
ORPHA:808 |
Cranioectodermal Dysplasia 4 |
|
Frontal bossing, Sagittal craniosynostosis, Protruding ear, Hip dysplasia, Cutaneous finger synda... |
OMIM:614378 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Underfolded helix, Abno... |
ORPHA:178303 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Clinodactyly,... |
OMIM:618577 |
Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Optic atrophy, Brachycephaly, Atresia of the external... |
OMIM:123500 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Posteriorly rotated ears, Elbow contracture, Craniosynostosis,... |
OMIM:178110 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Frontoocular Syndrome |
|
Trigonocephaly, Coronal craniosynostosis, Posteriorly rotated ears, Low-set ears |
OMIM:605321 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Frontal bossing, Recurrent fractures, Craniosynostosis, Joint hypermobility |
OMIM:147060 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Stapes ankylosis, Brachycephaly, Coxa vara, 2-3 toe syndactyly, Radioulnar synostosis... |
OMIM:614701 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Hip contracture, Flexion contracture of finger, Failure to thrive, Small for g... |
OMIM:193700 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty... |
OMIM:101200 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, External ear malformation, Con... |
ORPHA:254346 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder dislocation, Pr... |
OMIM:245600 |
Prognathism, Mandibular |
|
Craniosynostosis |
OMIM:176700 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... |
ORPHA:1553 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac... |
OMIM:166220 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Large fontanelles, Obesity, Biparietal narrowing, L... |
ORPHA:251038 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Overlapping fingers, Small for gestational age, Rocker bottom foot, Craniosynostosis, Coxa valga,... |
OMIM:301056 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Trigonocephaly 1 |
|
Metopic synostosis, Trigonocephaly, Craniosynostosis |
OMIM:190440 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... |
OMIM:305620 |
Coffin-Siris Syndrome 7 |
|
Posteriorly rotated ears, Sagittal craniosynostosis, Hearing impairment, Recurrent otitis media, ... |
OMIM:618027 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Pycnodysostosis |
|
Joint laxity, Frontal bossing, Increased bone mineral density, Persistent open anterior fontanell... |
ORPHA:763 |
Chromosome 10Q26 Deletion Syndrome |
|
Frontal bossing, Congenital hip dislocation, Toe syndactyly, Sandal gap, Craniosynostosis, Small ... |
OMIM:609625 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Optic disc pallor, Flexion contracture, Craniosynostosis, Hypsarrhythmia |
OMIM:619076 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Conductive hearing impairment, Sp... |
ORPHA:1826 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Frontal bossing, Recurrent fractures, Reduced bone mineral density, Wormian bones, Co... |
OMIM:112240 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Joint hypermobility |
OMIM:618906 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Flexion contracture, Dislocated radial head, Join... |
OMIM:130070 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Large for gestational age, Osteoporosis, Brachycephaly, Multi... |
OMIM:615398 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow... |
OMIM:166200 |
Enlarged Parietal Foramina |
|
Parietal foramina, Broad thumb, Short clavicles, Craniosynostosis |
ORPHA:60015 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... |
OMIM:166250 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Frontal bossing, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, C... |
ORPHA:2462 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Frontal bossing, Genu recurvatum, Arachnodactyly, Craniosynostosis, Dol... |
OMIM:182212 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Finger syndactyly, Broad toe, Progressive flexion contrac... |
ORPHA:93932 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee... |
OMIM:609945 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
EEG abnormality, Turricephaly, Craniosynostosis |
ORPHA:1496 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hip dislocatio... |
OMIM:109120 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:269920 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, Femoral bowing,... |
OMIM:600920 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Conductive hearing impairment, Sensorineural hearing impairment, Obesity, Hand ... |
ORPHA:261197 |
3Mc Syndrome |
|
Abnormal pinna morphology, Craniosynostosis, Hearing impairment, Hip dislocation, Large fleshy ea... |
ORPHA:293843 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Scaphocephaly, Small hand, Brachycephaly, Low-set ears, Camptodactyly,... |
ORPHA:459061 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Humeroradial synostosis, Forearm undergrowth, Low-... |
OMIM:251230 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Microvesicular hepatic steatosis, Cardiomyo... |
OMIM:212140 |
Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Cloverleaf skull, Broad hallux, Shortening of all middle phalanges... |
OMIM:101600 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... |
OMIM:256550 |
Schinzel-Giedion Syndrome |
|
Tibial bowing, Wide anterior fontanel, Hypsarrhythmia, Abnormal cochlea morphology, Sclerosis of ... |
ORPHA:798 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Frontal bossing, Short metacarpal, Brachydactyly, Metaphyseal dysplasia, Craniosynostosis, Metaph... |
OMIM:250410 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Clinodactyly of the 5t... |
ORPHA:2163 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Arachn... |
ORPHA:536467 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Frontal bossing, Short metacarpal, Craniosynostosis, Metaphyseal chondrodysplasia,... |
ORPHA:166035 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Large for gestational age, Sensorineural hearing impairment, Fl... |
ORPHA:314588 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepat... |
OMIM:600649 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Joint laxity, Craniosynostosis, Uplifted earlobe, Protruding ear, EEG abnormality, Low-set ears, ... |
ORPHA:412069 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Hamamy Syndrome |
|
Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Tapered finger, Down-slo... |
OMIM:611174 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Brachycephaly, Femoral bowing, Conductive hearing impairment, Abnormality of... |
ORPHA:95699 |
Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Cochlear malformation, Abnormal vestibular function |
OMIM:274600 |
Meier-Gorlin Syndrome 7 |
|
Joint laxity, 2-4 finger syndactyly, Craniosynostosis, Sagittal craniosynostosis, Aplasia/Hypopla... |
OMIM:617063 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Brachycephaly, Low-set ears, Coronal craniosynostosis, Calvarial skull defect |
ORPHA:228390 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Rocker bottom foot, Post... |
OMIM:619951 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Trigonocephaly, Scaphocephaly, Low-set ears, Sagittal craniosynostosis |
OMIM:616901 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Unde... |
ORPHA:50815 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Hepatocellular... |
OMIM:201475 |
Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Osteoporosis, Small anterior fontanelle, Widely patent coronal sutu... |
ORPHA:2409 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Small for gestational age, Craniosynostosis, Round ear, Low-set ears, Dolichocep... |
OMIM:614114 |
Slc39A8-Cdg |
|
Osteopenia, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contracture, Knee flexi... |
ORPHA:468699 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Frontal bossing, Tarsal synostosis, Aplastic clavicle, Parietal foram... |
ORPHA:85199 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... |
ORPHA:536471 |
Gorlin-Chaudhry-Moss Syndrome |
|
Brachycephaly, Abnormal metacarpal morphology, Conductive hearing impairment, Coronal craniosynos... |
ORPHA:2095 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Apla... |
ORPHA:2554 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Hypoplasia of the radius, Low-set ears, M... |
ORPHA:96097 |
Saethre-Chotzen Syndrome |
|
Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Clinodactyly of the 5... |
OMIM:101400 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Craniosynostosis, Hearing abnormality, Aplasia/Hypoplasia of the ... |
ORPHA:1555 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Brachycephaly, Patellar hypoplasia, Conductive hearing impairment, Spina ... |
OMIM:218600 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Broad finger |
OMIM:617523 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Posteriorly rotated ears, Rocker bottom foot, Craniosynostosis, Tapered ... |
ORPHA:1272 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Marshall-Smith Syndrome |
|
Large sternal ossification centers, Distal widening of metacarpals, Coxa vara, Prominent fingerti... |
OMIM:602535 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Trigonocep... |
OMIM:252500 |
15Q Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Turricephaly, Contracture of the proximal interphalangeal join... |
ORPHA:314585 |
Trisomy 10P |
|
Frontal bossing, Wide cranial sutures, Thumb contracture, Small for gestational age, Posteriorly ... |
ORPHA:171929 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... |
ORPHA:268 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Brachycephaly, Knee flexion contrac... |
ORPHA:3103 |
Hypomandibular Faciocranial Dysostosis |
|
Craniosynostosis, Optic disc coloboma, Brachycephaly, Low-set ears, Trigonocephaly, Midface retru... |
ORPHA:1790 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Hearing impairment |
OMIM:615269 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Low-set, posteriorly rotated ears, Craniosynostosis, Optic atrophy, Plagiocephaly, Brachydactyly |
ORPHA:457193 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Posteriorly rotated ears, Craniosynostosis, Contracture of the proximal interphalangeal joint of ... |
OMIM:618050 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy |
OMIM:616881 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
3Mc Syndrome 1 |
|
Single interphalangeal crease of fifth finger, Hearing impairment, Wide anterior fontanel, Conduc... |
OMIM:257920 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Irregular epiphyses, Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoke... |
OMIM:619260 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme... |
ORPHA:555874 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Sensorineural... |
ORPHA:576 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites |
OMIM:614702 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Upper limb undergrowth, Brachycephaly, Obesity, Multifocal epilepti... |
ORPHA:369837 |
9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly, Craniosynostosis |
ORPHA:531151 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad meta... |
OMIM:266920 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent joint dislocation, Craniosynostosis, Tapered finger,... |
ORPHA:2953 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia,... |
ORPHA:42 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Flat acetabular roof, Fibular h... |
OMIM:616300 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Aganglionic megacolon, Shortening of all distal phalanges of the fingers, Plagiocep... |
OMIM:614749 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Chronic... |
ORPHA:2314 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... |
OMIM:253250 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, Patchy reduction of bone mineral density, Synostosis of carpal bones, Low... |
ORPHA:221120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Toe syndactyly, Small for gestational age, Craniosynostosis, 4-5 toe syndactyly, 3-... |
OMIM:300707 |
Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Joint hyperflexibility, Short sternum, Craniosynostosis |
ORPHA:3134 |
Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, C... |
ORPHA:235 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial ... |
OMIM:616580 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Mixed hearing impairment, Optic disc pallor, Craniosynostosis, Joint st... |
ORPHA:309282 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Craniosynostosis, Plagiocephaly, Hip dysplasia, Abnormal aut... |
ORPHA:453499 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Optic disc coloboma |
OMIM:241310 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Nablus Mask-Like Facial Syndrome |
|
Frontal bossing, Small earlobe, Sandal gap, Posteriorly rotated ears, Craniosynostosis, Tapered f... |
OMIM:608156 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc... |
OMIM:618886 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Frontal bossing, Short metacarpal, Cloverleaf skull, Craniosynostosis, Limited elbow movement, Pr... |
ORPHA:508533 |
3Mc Syndrome 2 |
|
Craniosynostosis, Limited elbow movement, Hearing impairment, Hip dislocation, Radioulnar synosto... |
OMIM:265050 |
Mullegama-Klein-Martinez Syndrome |
|
Frontal bossing, Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Polydac... |
OMIM:301022 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Cloverleaf skull, Flat occiput, Overlapping toe, Craniosynostosis, Posteriorly rotated ears, Opti... |
OMIM:123790 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, 2-3 finger syndac... |
OMIM:601707 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Posteriorly rotated ears, Optic nerve hypoplasia, Proboscis, Craniosynostosis, P... |
OMIM:605627 |
Scarf Syndrome |
|
Posteriorly rotated ears, Short sternum, Low-set ears, Lambdoidal craniosynostosis, Coronal crani... |
OMIM:312830 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Prominent metopic ridge, Multiple joint... |
ORPHA:468631 |
Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Sensorineural hearing impairment, Spina bifida occulta, Small hand, Short foot, Cutan... |
OMIM:235510 |
Tatton-Brown-Rahman Syndrome |
|
Patellar subluxation, Talipes valgus, Optic nerve hypoplasia, Sagittal craniosynostosis |
OMIM:615879 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Frontal bossing, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 ... |
OMIM:614099 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Frontal bossing, Brachydactyly, Broad toe, Short humerus, Sagittal craniosynostosis... |
OMIM:218330 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid conte... |
ORPHA:565612 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Small for gestational age, Craniosynostosis, Tapered finger, Hearing impairment,... |
OMIM:309590 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Wide anterior fontanel, Long ... |
ORPHA:401973 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... |
ORPHA:667 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Joint hypermobility, Joint stiffness, Short long bone, Short palm, Tracheobronchomalacia, Bicoron... |
OMIM:619184 |
Choanal Atresia |
|
Tracheomalacia, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... |
ORPHA:99931 |
Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Coronal craniosynostosis, Small hand, Sagittal craniosynostosis |
OMIM:145420 |
Frontonasal Dysplasia 2 |
|
Craniosynostosis, Parietal foramina, Brachycephaly, Low-set ears, Anterior plagiocephaly, Calvari... |
OMIM:613451 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... |
OMIM:602782 |
Acrocephalopolydactylous Dysplasia |
|
Abnormal pinna morphology, Craniosynostosis, Postaxial hand polydactyly, Oxycephaly, Low-set ears |
OMIM:200995 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Hepat... |
ORPHA:465508 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Craniosynostosis, Long fingers, Brachycephaly, Obesity, Abnorm... |
ORPHA:96121 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
Arterial Tortuosity Syndrome |
|
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... |
ORPHA:3342 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Pediatric-Onset Graves Disease |
|
Small anterior fontanelle, Failure to thrive, Craniosynostosis |
ORPHA:525731 |
Carpenter Syndrome 2 |
|
Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion contracture, Protruding ear, Cutaneo... |
OMIM:614976 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Dilatated internal auditory c... |
OMIM:113650 |
Cockayne Syndrome B |
|
Small for gestational age, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrea... |
OMIM:133540 |
Craniofrontonasal Syndrome |
|
Joint laxity, Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Brachycephal... |
OMIM:304110 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis |
ORPHA:3240 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Craniosynostosis, Sagi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Craniosynostosis, Sagi... |
ORPHA:352665 |
Hyperlysinemia |
|
EEG with spike-wave complexes, Craniosynostosis, Hypoplasia of the antihelix, Hypoplastic helices... |
ORPHA:2203 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Posteriorly rotated e... |
OMIM:213980 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
1P31P32 Microdeletion Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:401986 |
Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Craniosynostosis, Elbow flexion contracture, Hip dislocation, ... |
ORPHA:3132 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Arboleda-Tham Syndrome |
|
Anteverted ears, Chronic otitis media, Small earlobe, Prominent antitragus, Genu varum, Short hal... |
OMIM:616268 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Sagittal craniosynostosis, Wide anterior fontanel, Sensorineural hearing impairment, ... |
OMIM:610199 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Joint dislocation, Prominent fingertip pads, Anomaly of lower limb diaphyses, Arach... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Joint dislocation, Prominent fingertip pads, Anomaly of lower limb diaphyses, Arach... |
ORPHA:363958 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long fingers, Scaphoce... |
OMIM:616914 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Frontal bossing, Posteriorly rotated ears, Optic nerve hypoplasia, Craniosynostosis, Low-set ears... |
OMIM:617506 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:1064 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Craniosynostosis, Obesity |
ORPHA:251004 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Intrahe... |
OMIM:614921 |
Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... |
ORPHA:33364 |
Noonan Syndrome 3 |
|
Frontal bossing, Posteriorly rotated ears, Thickened helices, Sagittal craniosynostosis, Scaphoce... |
OMIM:609942 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... |
OMIM:619259 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Frontal bossing, Syndactyly, Cloverleaf skull, Craniosynostosis, Simple ear, Postax... |
OMIM:613610 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Conductive hearing impairment, Congeni... |
OMIM:157800 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Failure to t... |
ORPHA:51608 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Craniosynostosis, Tapered finger, Scaphocephaly, Small hand, Hip dysplasia, Micr... |
OMIM:620005 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n... |
ORPHA:909 |
Cockayne Syndrome A |
|
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve ... |
OMIM:216400 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Turricephaly, Small for gestational age, Posteriorly rotated ears, Craniosynostosis, ... |
OMIM:612289 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Foot joint contracture, Macrotia, Optic atrophy, Failure to ... |
ORPHA:90321 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Osteoporosis, Anterior plagiocephaly, Bicoronal synostosis |
OMIM:619718 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Broad hallux phalanx, Low-set, posteriorly rotated ears, Sandal gap, Small for gestat... |
ORPHA:363611 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Upper limb undergrowth, Truncal obesity, Microtia, Br... |
ORPHA:529962 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Posteriorly rotated ears, Uplifted earlobe,... |
OMIM:607932 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Zttk Syndrome |
|
Frontal bossing, Craniosynostosis, Flexion contracture, Small hand, Optic atrophy, Protruding ear... |
OMIM:617140 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... |
ORPHA:158687 |
Hartsfield Syndrome |
|
Syndactyly, Posteriorly rotated ears, Craniosynostosis, Ectrodactyly, Low-set ears, Hypoplasia of... |
OMIM:615465 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertrophic cardiomyopathy, Ascites |
OMIM:616897 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... |
OMIM:617022 |
Treacher Collins Syndrome 2 |
|
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia |
OMIM:613717 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Roberts-Sc Phocomelia Syndrome |
|
Brachycephaly, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, ... |
OMIM:268300 |
Opitz Gbbb Syndrome |
|
Prominent metopic ridge, Posteriorly rotated ears, Craniosynostosis, Large fontanelles, Low-set e... |
ORPHA:2745 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Degcags Syndrome |
|
Osteopenia, Syndactyly, Toe syndactyly, Small for gestational age, Posteriorly rotated ears, Cran... |
OMIM:619488 |
Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, External ear malformation, Low-set ... |
ORPHA:2136 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Small for gestational age, Craniosynostosis, Posteriorly rotated ears,... |
ORPHA:506358 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Attached earlobe, Mixed hearing impairment, Craniosynostosis, U... |
ORPHA:1299 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prominent o... |
ORPHA:79330 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
22Q11.2 Deletion Syndrome |
|
Turricephaly, Arachnodactyly, Aganglionic megacolon, Conductive hearing impairment, Optic atrophy... |
ORPHA:567 |
Peters-Plus Syndrome |
|
Limited elbow movement, Proximal placement of thumb, Short metatarsal, Protruding ear, Square pel... |
OMIM:261540 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Joint stiffness, Metatarsus val... |
ORPHA:744 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Frontal bossing, Cloverleaf skull, Arachnodactyly, Tarsal synostosis, Craniosynostosis, Rocker bo... |
OMIM:201750 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Plagiocephaly, Syndactyly, Unilateral brachydactyly, Craniosynostosis |
ORPHA:1521 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Doors Syndrome |
|
Frontal bossing, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, A... |
ORPHA:79500 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Lipid accumul... |
OMIM:608836 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Renal tubular epithelial necrosis... |
ORPHA:228308 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ab... |
ORPHA:2463 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joi... |
ORPHA:83617 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Arthrogryposis mu... |
OMIM:608013 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Frontal bossing, Arachnodactyly, Failure to thrive in infancy, Sagittal craniosynostosis, Absent ... |
ORPHA:500150 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Craniosynostosis |
ORPHA:79396 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Otosclerosis, Decreased nerve conduction velocity, Conductive hearing impairment, Se... |
ORPHA:580 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Macroglossia |
OMIM:230000 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda... |
OMIM:610168 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... |
OMIM:618143 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Flexion contracture... |
ORPHA:581 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Congestive heart failure, Myopathy, ... |
ORPHA:14 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Camptodactyly |
OMIM:609192 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility |
ORPHA:60030 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia |
ORPHA:96191 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Otosclerosis, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Otosclerosis, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con... |
ORPHA:217093 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Microcytic anemia, Cardiomegaly, ... |
OMIM:256040 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Dolichocephaly, Osteoarthrit... |
OMIM:613795 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Craniosynostosis... |
ORPHA:821 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... |
OMIM:619991 |
Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Prominent metopic ridge, Large for gestational age, Wide anterior fontanel, Large f... |
ORPHA:116 |
Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Facial palsy, Proximal placement of thumb, Short thumb, Preaxial hand p... |
OMIM:113620 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Neonatal alloimmune thro... |
ORPHA:51 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis |
OMIM:601374 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Long toe, Broad hallux, Arachnodactyly, Aganglionic megacolon, Posteri... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Uplifted earlobe, Flexion contracture, Calcaneovalgus deformity, Long hallux, Long toe, Syndactyl... |
ORPHA:261552 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... |
ORPHA:904 |
Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Osteomyelitis, Otitis media |
ORPHA:2968 |
Norrie Disease |
|
Cachexia, Macrotia, Sensorineural hearing impairment, Optic atrophy, Protruding ear, EEG abnormal... |
ORPHA:649 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... |
ORPHA:3472 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Eunuchoid habitus, Congenital sensorineural hearing impairment, Generalized joint lax... |
ORPHA:432 |
Kallmann Syndrome |
|
Obesity, Sensorineural hearing impairment, Recurrent fractures, Reduced bone mineral density |
ORPHA:478 |