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 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... |
ORPHA:90646 |
Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... |
OMIM:185800 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Treacher Collins Syndrome 2 |
|
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia |
OMIM:613717 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia |
ORPHA:1296 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... |
ORPHA:79113 |
Branchiootic Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... |
ORPHA:52429 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Fused... |
OMIM:184460 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankle, Atresia of ... |
ORPHA:2010 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Deafness, X-Linked 7 |
|
Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito... |
OMIM:301018 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Coxoauricular Syndrome |
|
Hip dislocation, Reduced bone mineral density, Microtia, Atresia of the external auditory canal, ... |
ORPHA:1508 |
Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... |
OMIM:609166 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Congenital sensorin... |
OMIM:157800 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... |
ORPHA:52368 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Congenital hip dislocation, Atresia of the external auditory canal |
OMIM:133705 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
Otofaciocervical Syndrome |
|
Delayed skeletal maturation, Protruding ear, Abnormal antihelix morphology, Atresia of the extern... |
ORPHA:2792 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:141400 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Atresia of the external audi... |
OMIM:243180 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
ORPHA:2213 |
X-Linked Mandibulofacial Dysostosis |
|
Cryptorchidism, Branchial anomaly, High palate, Pulmonic stenosis, Webbed neck, Abnormal mitral v... |
ORPHA:1131 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Hearing impairment |
OMIM:619981 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Facial palsy, Sensorineural hearing impairment, Elbow flexion contractu... |
OMIM:113620 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:300946 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive hearing impairment, Ste... |
OMIM:608257 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death |
OMIM:611890 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Abnormality of th... |
ORPHA:949 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology |
ORPHA:2849 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Reduced bone mineral density, Joint h... |
ORPHA:1488 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Cleft palate, Truncus arteriosus |
OMIM:615583 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Tarsal synostosis |
OMIM:617898 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Malformation of t... |
OMIM:208540 |
Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Abnormality of the middle ear o... |
ORPHA:2789 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Stapes ankylosis, Proximal/middle symphalangism of 5th toe, Tarsal synostosis,... |
OMIM:186500 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology, Polyhyd... |
ORPHA:199302 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:453499 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:239800 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Verloove Vanhorick-Brubakk Syndrome |
|
Microtia, Tarsal synostosis, Atresia of the external auditory canal, Low-set ears |
ORPHA:3429 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Lambotte Syndrome |
|
Macrotia, Atresia of the external auditory canal |
OMIM:245552 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Atresia of the external auditory canal |
OMIM:601356 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac... |
OMIM:166220 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Delayed sk... |
ORPHA:1435 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Simple ear, Delayed ossification of pubic rami, Hip dislocation, Atresia of the external auditory... |
OMIM:602471 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Hip contracture, Flexion contracture of finger, Recurrent fractures, Polyhydra... |
OMIM:193700 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy, Exaggerated sta... |
OMIM:616881 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Atopic dermatitis, Os... |
ORPHA:3240 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials |
OMIM:109120 |
Johnson Neuroectodermal Syndrome |
|
Facial palsy, Protruding ear, Microtia, Atresia of the external auditory canal, Conductive hearin... |
ORPHA:2316 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Skin rash, Abnormal auditory evoked potentials |
OMIM:617523 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Finger join... |
OMIM:166200 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Radioulnar synostosis, Low-set ears |
OMIM:614701 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Crouzon Syndrome |
|
Sagittal craniosynostosis, Keratitis, Optic atrophy, Conjunctivitis, Atresia of the external audi... |
OMIM:123500 |
Holoprosencephaly |
|
Encephalocele, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology,... |
ORPHA:2162 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Joint stiffness, Microtia, Atresia of the external auditory ca... |
ORPHA:245 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Wormian bones, Posteriorly rotated ears, Abnormality of the middle ear ossicles... |
OMIM:130720 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Intestinal malrotation, Cleft palate, Euthyroid goiter, High p... |
OMIM:113650 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Supernumerary... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Supernumerary... |
ORPHA:352665 |
Craniosynostosis And Dental Anomalies |
|
Stapes ankylosis, Prominent metopic ridge, Papilledema, Absent malleus, Sagittal craniosynostosis... |
OMIM:614188 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... |
OMIM:240300 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Cryptorchidism |
ORPHA:435938 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Low-set ears, Conduct... |
OMIM:613309 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Polyhydramnios, Osteoporosis, Atresia of the external auditory canal, Esophagitis, Re... |
OMIM:612562 |
Acrootoocular Syndrome |
|
Sensorineural hearing impairment, Delayed skeletal maturation, Abnormal earlobe morphology, Pseud... |
ORPHA:2980 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Delayed skeletal maturation, Optic disc pallor, Sensorineural hearing impairment, Abnormal audito... |
OMIM:619260 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Aplasia/Hypoplasia of the gallblad... |
ORPHA:2255 |
Feingold Syndrome |
|
Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Annular pancreas, Duoden... |
ORPHA:1305 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov... |
OMIM:610536 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Delayed skeletal maturation, Microtia, Atresia of the external... |
ORPHA:1770 |
Diamond-Blackfan Anemia 11 |
|
Radioulnar synostosis, Stenosis of the external auditory canal, Atresia of the external auditory ... |
OMIM:614900 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Atresia of the external ... |
OMIM:301022 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Abnormal pancreas morphology, Abnormal thalamic MRI signal intens... |
ORPHA:48818 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, High, narrow palate, Pyloric stenosis, Cleft palate... |
ORPHA:261330 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... |
OMIM:167800 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Neonatal death, Atrial septal defect, At... |
OMIM:265380 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, High palate, Atrial septa... |
OMIM:618162 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defect... |
OMIM:618175 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Wormian bones, Aganglionic megacolon, Recurrent pneumonia, Hypsarrhyth... |
ORPHA:798 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:105400 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Absent nipple, Aplasia of the thymus, Hypothyroidism, Congenital hyp... |
OMIM:620186 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis |
OMIM:615503 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears |
ORPHA:2328 |
Dextrocardia |
|
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... |
ORPHA:1666 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Cystic hygroma, Polysplenia, Polycystic liver disease |
OMIM:211890 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low poste... |
ORPHA:261337 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Chromosome 18Q Deletion Syndrome |
|
Joint laxity, Tremor, Sensorineural hearing impairment, Optic atrophy, Atopic dermatitis, Atresia... |
OMIM:601808 |
Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Joint stiffn... |
ORPHA:581 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Tracheoesophageal fis... |
ORPHA:861 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Wide cranial sutures, Tracheomalacia, Sensorineural hearing impairment,... |
OMIM:601390 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology |
ORPHA:412066 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Barber-Say Syndrome |
|
Abnormal pinna morphology, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1231 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ... |
OMIM:605039 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conductive hearing impairment, Conjunctivitis, Atresia of the external auditory canal, Blepharitis |
OMIM:106260 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis |
OMIM:617892 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Ventricular septal defect, Short neck, Dysplastic ao... |
ORPHA:508488 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Foot joint contracture, Tremor, Optic atrophy, Uveitis, Conj... |
ORPHA:90321 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Abnormality... |
ORPHA:51608 |
Trisomy 8P |
|
Multiple joint contractures, Posteriorly rotated ears, Aplasia/Hypoplasia of the tragus, Metopic ... |
ORPHA:264450 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Wide cranial sutures, Tracheomalacia, Sensorineural hearing impairment,... |
OMIM:615546 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Sensorineural hearing impairment, EEG abnormality, Atresia of the extern... |
ORPHA:261236 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal... |
OMIM:600001 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Pulmonary edema, Polyhydramnios, Edema, Sensorineural hearin... |
ORPHA:79330 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Anotia, Microtia, Atresia of the external auditory canal, Tracheomalacia, Hearin... |
ORPHA:268249 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:456312 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Neurofaciodigitorenal Syndrome |
|
External ear malformation, Abnormality of the elbow, Abnormal tragus morphology, Abnormal antitra... |
ORPHA:2673 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... |
ORPHA:2306 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Short neck, H... |
ORPHA:96149 |
Trisomy 10P |
|
Wide cranial sutures, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with bur... |
ORPHA:171929 |
Meier-Gorlin Syndrome 1 |
|
Joint laxity, Absent sternal ossification, Genu recurvatum, Aplasia/Hypoplasia of the patella, El... |
OMIM:224690 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Enlarged lacrimal glands... |
ORPHA:449432 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Clef... |
OMIM:263520 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Short neck, Hypoplasia of the small intesti... |
OMIM:200995 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Elbo... |
ORPHA:2554 |
Pancreatic Agenesis 2 |
|
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... |
OMIM:615935 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia,... |
ORPHA:564 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
Jacobsen Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Pyloric stenosis, Atrial septal defect, An... |
OMIM:147791 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... |
OMIM:229850 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased response to g... |
ORPHA:699 |
Jacobsen Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Spina bifida, Short neck, Cryptorchidism, Pylo... |
ORPHA:2308 |
Pfeiffer Syndrome Type 2 |
|
Tracheomalacia, Limitation of joint mobility, Atresia of the external auditory canal, Low-set ears |
ORPHA:93259 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Esophageal atresia, Tra... |
OMIM:227646 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... |
ORPHA:276244 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Large placenta, Splenomega... |
ORPHA:116 |
Campomelia, Cumming Type |
|
Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Abnormal intestine mor... |
ORPHA:1318 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Pituitary growth hormone cell ... |
ORPHA:730 |
Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate |
ORPHA:1190 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Steatorrhea, Hepatic fibros... |
OMIM:616263 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Posteriorly rotated ears, Delayed skeletal maturation, Cupped ear, Atresia o... |
ORPHA:264200 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Abnormal pericardium morphology, Pancreatic cyst... |
ORPHA:284 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Furrowed tongue, High palate... |
OMIM:616975 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... |
OMIM:610199 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic neuropa... |
ORPHA:909 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Inflammation of the large intes... |
OMIM:232220 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Cleft palate, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Bosma Arhinia Microphthalmia Syndrome |
|
Conductive hearing impairment, Abnormal pinna morphology, Atresia of the external auditory canal,... |
OMIM:603457 |
Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Tracheomalacia |
ORPHA:1393 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Bone Marrow Failure Syndrome 3 |
|
Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617052 |
Cockayne Syndrome A |
|
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve ... |
OMIM:216400 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Posteriorly rotated ears, Craniosynostosis, Optic atrophy, Atresia of the external auditory canal... |
OMIM:123790 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Microtia, Recurrent otitis media, Abnormality of the ankle, Progressive conductive ... |
ORPHA:529962 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormality of the neck... |
ORPHA:464329 |
Orofaciodigital Syndrome I |
|
Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Cleft palate, Abnormal heart morphology,... |
OMIM:311200 |
1P36 Deletion Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Abnormality of the spleen, Dilated cardiomyopath... |
ORPHA:1606 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:608627 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Esophageal varix, Periportal f... |
OMIM:263200 |
Acrofacial Dysostosis 1, Nager Type |
|
Posteriorly rotated ears, Aganglionic megacolon, Hip dislocation, Radioulnar synostosis, Atresia ... |
OMIM:154400 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Macronodular cirrhosis, Steato... |
OMIM:557000 |
Fraser Syndrome 2 |
|
Atresia of the external auditory canal, Low-set ears, Oligohydramnios |
OMIM:617666 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Optic atrophy, Congenital contracture, Microtia, Atresia of the external ... |
OMIM:236670 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis |
ORPHA:803 |
Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord |
ORPHA:79139 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impairment |
ORPHA:3186 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Recurrent otitis media, Lower-limb joint contracture, Abnormal Eustachian tube morphology, Trache... |
ORPHA:513456 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:154500 |
Monosomy 9P |
|
Limitation of joint mobility, Abnormal antihelix morphology, Anotia, Microtia, Atresia of the ext... |
ORPHA:261112 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Microtia, Atresia of the external auditory canal, Hearing impairment |
ORPHA:920 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hypothyroidism, Jaundice, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas... |
ORPHA:93111 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Pancreati... |
ORPHA:892 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Cryptorchidism, Anteriorly placed anus, Hypogonadism, High palate, Ann... |
OMIM:268400 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Ankyloglossia, Cleft palate |
ORPHA:488642 |
Pallister-Hall Syndrome |
|
Posteriorly rotated ears, Radial head subluxation, Hip dislocation, Microtia, Atresia of the exte... |
OMIM:146510 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis |
OMIM:615911 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Papilledema, Decreased nerve conduction velocity, Sensorineural hearing impairment,... |
ORPHA:580 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Unilateral cryptorchidism, Decreased response to growth hormone stimulation te... |
OMIM:613406 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Paraganglioma |
OMIM:193300 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia |
ORPHA:261265 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology |
OMIM:614298 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie... |
OMIM:619381 |
Fraser Syndrome 1 |
|
Abnormal pinna morphology, Cupped ear, Atresia of the external auditory canal, Low-set ears, Cond... |
OMIM:219000 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con... |
ORPHA:217093 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, High palate, Neonatal death, Type I diabet... |
OMIM:618500 |
Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Joint stiffness, Elbow dislocation, Sensorineural hearing impa... |
ORPHA:199 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, High palate, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia |
ORPHA:556955 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Branc... |
OMIM:164210 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Atresia of the external auditory ca... |
ORPHA:2052 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Syringomyelia, Myelitis |
ORPHA:1320 |
Doors Syndrome |
|
Polyhydramnios, Sagittal craniosynostosis, Optic atrophy, EEG abnormality, Atresia of the externa... |
ORPHA:79500 |
Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Radial head subluxation, Hip dislocation, Microtia, Distal art... |
ORPHA:672 |
Bladder Exstrophy |
|
Umbilical hernia, Intestinal malrotation, Abnormality of the anus |
ORPHA:93930 |