Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, 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 |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... |
OMIM:124490 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
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 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:108760 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... |
OMIM:185800 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Renal, Genital, And Middle Ear Anomalies |
|
Abnormality of the middle ear ossicles, Hearing impairment |
OMIM:267400 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media |
OMIM:221320 |
Lambert Syndrome |
|
Intrahepatic biliary atresia, Cholestasis, Ventricular septal defect, Branchial anomaly, Jaundice |
ORPHA:1296 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... |
ORPHA:79113 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... |
ORPHA:52429 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... |
OMIM:184460 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankles, Atresia of... |
ORPHA:2010 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Aural Atresia, Congenital |
|
Atresia of the external auditory canal, Conductive hearing impairment |
OMIM:607842 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
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 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Coxoauricular Syndrome |
|
Reduced bone mineral density, Microtia, Atresia of the external auditory canal, Hip dislocation, ... |
ORPHA:1508 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... |
OMIM:609166 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia |
OMIM:251800 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Congenital sensorineural hearing impairment, Carpal synostosis, Jo... |
OMIM:157800 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... |
ORPHA:3236 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... |
ORPHA:107 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Atresia of the external auditory canal, Conductive hearing impairment, Congenital hip dislocation |
OMIM:133705 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Otofaciocervical Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Atresia of the exte... |
ORPHA:2792 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Hemifacial Microsomia With Radial Defects |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
OMIM:141400 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
ORPHA:2213 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Atresia of the external auditory canal, Arthrogrypo... |
OMIM:243180 |
X-Linked Mandibulofacial Dysostosis |
|
High palate, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly,... |
ORPHA:1131 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2549 |
Smith-Magenis Syndrome |
|
Abnormality of the outer ear, Hearing impairment, EEG abnormality, Morphological abnormality of t... |
OMIM:182290 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... |
ORPHA:210122 |
Microtia |
|
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Branchiooculofacial Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Microtia, Overfolded helix, Hypo... |
OMIM:113620 |
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 |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology |
OMIM:611890 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Joint contracture of the hand, Stenosis of the external auditory c... |
OMIM:608257 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:949 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, High, narrow palate, Cryptorchidism |
ORPHA:2849 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Reduced bone mineral density, Campt... |
ORPHA:1488 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Conductive hearing impairment, Dislocated radial head, Flexion contracture, Delayed ossification ... |
OMIM:602471 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Tarsal synostosis |
OMIM:617898 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Bile duct pro... |
OMIM:208540 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Abnormal audit... |
OMIM:201050 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
Lateral Meningocele Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2789 |
Multiple Synostoses Syndrome 1 |
|
Conductive hearing impairment, Stapes ankylosis, Carpal synostosis, Dislocated radial head, Proxi... |
OMIM:186500 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology |
OMIM:613724 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Atrioventricular canal de... |
ORPHA:453499 |
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 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... |
ORPHA:1435 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
OMIM:239800 |
Isolated Cleft Lip |
|
Abnormal Eustachian tube morphology, Conductive hearing impairment, Chronic otitis media, Polyhyd... |
ORPHA:199302 |
Verloove Vanhorick-Brubakk Syndrome |
|
Atresia of the external auditory canal, Low-set ears, Tarsal synostosis, Microtia |
ORPHA:3429 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Lambotte Syndrome |
|
Atresia of the external auditory canal, Macrotia |
OMIM:245552 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... |
OMIM:602433 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Otosclerosis, Reduced bone mineral density, Bowing of limbs due to multiple ... |
OMIM:166220 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Wormian bones |
OMIM:601356 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Lateral Meningocele Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear ossicles, Sclerosis of skull base, W... |
OMIM:130720 |
Crouzon Syndrome |
|
Keratitis, Conductive hearing impairment, Coronal craniosynostosis, Atresia of the external audit... |
OMIM:123500 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Microtia, Atresia of the external auditory canal, ... |
ORPHA:2316 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Microtia, Atresia of the external auditory canal, ... |
OMIM:147770 |
Arthrogryposis, Distal, Type 2A |
|
Recurrent fractures, Hip contracture, Flexion contracture of finger, Joint dislocation, Joint con... |
OMIM:193700 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
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 |
Diamond-Blackfan Anemia 11 |
|
Stenosis of the external auditory canal, Atresia of the external auditory canal, Radioulnar synos... |
OMIM:614900 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Low-set ears, Radioulnar synostosis |
OMIM:614701 |
Osteogenesis Imperfecta, Type I |
|
Recurrent fractures, Otosclerosis, Osteopenia, Wormian bones, Increased susceptibility to fractur... |
OMIM:166200 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Intestinal atresia, Encephalocele, Panhypopituitarism, Short... |
ORPHA:2162 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology |
ORPHA:35689 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Low-set ears, Pseudopapilledema, Atresia of the external auditory canal, Hearing impairment, Dela... |
OMIM:264475 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Cryptorchidism |
ORPHA:435938 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Atopic dermatitis, Head titubation, Vestibular areflexia |
ORPHA:3240 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Craniosynostosis And Dental Anomalies |
|
Conductive hearing impairment, Stapes ankylosis, Coronal craniosynostosis, Papilledema, Prominent... |
OMIM:614188 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... |
OMIM:615710 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Paucity of anterior horn motor neurons |
OMIM:253310 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, C... |
OMIM:267010 |
Branchiootorenal Syndrome 1 |
|
High palate, Euthyroid goiter, Cleft palate, Intestinal malrotation, Branchial fistula, Bifid uvu... |
OMIM:113650 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Atrial septal defect, Supernumerary nipple, Cleft palate, High, narrow pal... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Supernumerary nipple, Cleft palate, High, narrow pal... |
ORPHA:352665 |
Nager Syndrome |
|
Joint stiffness, Microtia, Low-set, posteriorly rotated ears, Atresia of the external auditory ca... |
ORPHA:245 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Iridocyclitis, Chronic active hepatitis, Chronic oral candidiasis, Keratoconjunctivitis, Atrophic... |
OMIM:240300 |
Diamond-Blackfan Anemia 10 |
|
Low-set ears, Conductive hearing impairment, Microtia, Atresia of the external auditory canal, He... |
OMIM:613309 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Patent ductus arteriosus, High palate, Atrial septal defect |
OMIM:618162 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Osteoporosis, Atresia of the external auditory canal, Polyhydramnios, Esophagitis, Re... |
OMIM:612562 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Acrootoocular Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Pseudopapilledema, Atresia of th... |
ORPHA:2980 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Atresia of the external auditory canal, Delayed skeletal maturation, Low-set, posteriorly rotated... |
ORPHA:1770 |
Feingold Syndrome |
|
Annular pancreas, Duodenal atresia, Abnormality of the spleen, Patent ductus arteriosus, Esophage... |
ORPHA:1305 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Conductive hearing impairment, Microtia, Overfolded helix, Atresia of the external auditory canal... |
OMIM:610536 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Biliary atresia, Ventricular sept... |
ORPHA:2255 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Action tremor, Flexion contracture, Abnormal autonomic nervous ... |
ORPHA:99027 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Delayed skeletal maturation, Abnormal audito... |
OMIM:619260 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, High palate, Anal atresia, Webbed neck, Macroglossia, Branchial fistula... |
ORPHA:261337 |
Warburg-Cinotti Syndrome |
|
Conductive hearing impairment, Joint swelling, Flexion contracture of finger, Ankle flexion contr... |
OMIM:618175 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Tremor, Decreased nerve conduction velocity, Prol... |
ORPHA:206443 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Diabetes mel... |
OMIM:167800 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, High, narrow palate, Cleft palate, Branchial fistula, Ventricular septal de... |
ORPHA:261330 |
Kapur-Toriello Syndrome |
|
Atresia of the external auditory canal, Low-set ears, Posteriorly rotated ears |
ORPHA:2328 |
Schinzel-Giedion Syndrome |
|
Large earlobe, Sclerosis of skull base, Abnormal helix morphology, Infantile sensorineural hearin... |
ORPHA:798 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis |
OMIM:615503 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... |
ORPHA:101085 |
Dextrocardia |
|
Webbed neck, Intestinal malrotation, Abnormality of the spleen, Situs inversus totalis, Dextrocar... |
ORPHA:1666 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:105400 |
Mucopolysaccharidosis Type 3 |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Conductive hearing impa... |
ORPHA:581 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Cystic hygroma, Polysplenia, Pancreatic cysts |
OMIM:211890 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Aceruloplasminemia |
|
Torticollis, Abnormal pancreas morphology, Abnormal thalamic MRI signal intensity, Elevated hepat... |
ORPHA:48818 |
Treacher-Collins Syndrome |
|
High palate, Cleft palate, Encephalocele, Glossoptosis, Tracheoesophageal fistula, Hypoplasia of ... |
ORPHA:861 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Atresia of the external auditory canal, Conductive hearing impairment, Blepharitis, Conjunctivitis |
OMIM:106260 |
16P13.11 Microdeletion Syndrome |
|
Sensorineural hearing impairment, EEG abnormality, Camptodactyly of finger, Atresia of the extern... |
ORPHA:261236 |
Bohring-Opitz Syndrome |
|
Narrow palate, Atrial septal defect, Supernumerary nipple, Intestinal malrotation, Hyperechogenic... |
OMIM:605039 |
Barber-Say Syndrome |
|
Atresia of the external auditory canal, Hearing impairment, Abnormal pinna morphology |
ORPHA:1231 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... |
ORPHA:2470 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Van Maldergem Syndrome 2 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Microtia, Tracheomalacia, Osteop... |
OMIM:615546 |
Chromosome 18Q Deletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Stenosis of the external auditor... |
OMIM:601808 |
Trisomy 8P |
|
Conductive hearing impairment, Multiple joint contractures, Morphological abnormality of the midd... |
ORPHA:264450 |
Van Maldergem Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Microtia, Tracheomalacia, Osteop... |
OMIM:601390 |
Isotretinoin-Like Syndrome |
|
Microtia, Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Bi... |
ORPHA:2306 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Abnormality of peripheral nerve conduction, Optic atrophy, T... |
ORPHA:90321 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Generalized Arterial Calcification Of Infancy |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Hypophosphatem... |
ORPHA:51608 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
Trisomy 10P |
|
Flexion contracture of thumb, EEG with focal spikes, Abnormality of the ear, Wide cranial sutures... |
ORPHA:171929 |
Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Microtia, Anotia, Hydrops fetalis, Atresia of the external auditory canal, Hearin... |
ORPHA:268249 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... |
OMIM:600001 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Pulmonary edema, Optic atr... |
ORPHA:79330 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Optic atrophy, Hearing impairmen... |
ORPHA:206436 |
Meier-Gorlin Syndrome 1 |
|
Low-set ears, Genu recurvatum, Joint contracture of the hand, Flexion contracture, Microtia, Abse... |
OMIM:224690 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... |
ORPHA:456312 |
Distal Monosomy 12Q |
|
Annular pancreas, Pituitary adenoma, Congenital hypertrophy of left ventricle, Duodenal atresia, ... |
ORPHA:96149 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Torticollis, Hypoplasia of... |
OMIM:609136 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Neurofaciodigitorenal Syndrome |
|
External ear malformation, Atresia of the external auditory canal, Abnormal tragus morphology, Ab... |
ORPHA:2673 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Cleft palate, Intestinal malrotation, Pancreatic fibrosis, Ventricular sept... |
OMIM:263520 |
Igg4-Related Submandibular Gland Disease |
|
Abnormality of the thyroid gland, Abnormal pancreas morphology, Sialadenitis, Xerostomia, Abnorma... |
ORPHA:449432 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Encephalocele, Pancreatic fibrosis, Accessory spl... |
ORPHA:564 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Short neck, Hypoplasia of the small intesti... |
OMIM:200995 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Feingold Syndrome 1 |
|
Annular pancreas, High palate, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pat... |
OMIM:164280 |
Ear-Patella-Short Stature Syndrome |
|
Craniosynostosis, Camptodactyly of finger, Anotia, Atresia of the external auditory canal, Hearin... |
ORPHA:2554 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Fryns Syndrome |
|
Anal atresia, Duodenal atresia, Atrial septal defect, Cleft palate, Intestinal malrotation, Esoph... |
OMIM:229850 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Jacobsen Syndrome |
|
Annular pancreas, Atrial septal defect, Short neck, Ventricular septal defect, Pyloric stenosis, ... |
OMIM:147791 |
Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
Fraser Syndrome 1 |
|
Conductive hearing impairment, Abnormal pinna morphology, Hypoplastic superior helix, Cupped ear,... |
OMIM:219000 |
Pearson Syndrome |
|
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Hepatomegaly, Decre... |
ORPHA:699 |
Jacobsen Syndrome |
|
Annular pancreas, Ectopic anus, Duodenal atresia, Webbed neck, Aortic valve stenosis, Hypoplastic... |
ORPHA:2308 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
Pfeiffer Syndrome Type 2 |
|
Atresia of the external auditory canal, Low-set ears, Limitation of joint mobility, Tracheomalacia |
ORPHA:93259 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Patent ductus arteri... |
OMIM:227646 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, He... |
ORPHA:116 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Esophageal varix,... |
OMIM:263200 |
Campomelia, Cumming Type |
|
Hepatomegaly, Cleft palate, Abnormality of the pancreas, Cystic hygroma, Abnormal intestine morph... |
ORPHA:1318 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Delayed puberty... |
OMIM:616263 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Polycystic liver disease, Hepatic cysts, Mitral valve prol... |
ORPHA:730 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... |
ORPHA:276244 |
Acrofacial Dysostosis 1, Nager Type |
|
Conductive hearing impairment, Limited elbow extension, Radioulnar synostosis, Atresia of the ext... |
OMIM:154400 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Malrotation of colon, Cleft palate |
ORPHA:1190 |
Shwachman-Diamond Syndrome 2 |
|
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hyperechogenic pancreas |
OMIM:617941 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Hiatus hernia, Splenomegaly, Congenital hypothyroidism, Cholestasis, Pancreatic hyp... |
OMIM:610199 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Cupped ear, Atresia of the external auditory canal, Hearing impairment, Dela... |
ORPHA:264200 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Abnormal spleen morphology, Hepatic cysts, Liver abscess, Abnorm... |
ORPHA:284 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien... |
OMIM:260370 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, High palate, Duodenal atresia, Ventricular septal defect, Furrowed tongue, Pate... |
OMIM:616975 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:95494 |
Cerebrocostomandibular Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Tracheomalacia |
ORPHA:1393 |
Bosma Arhinia Microphthalmia Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Abnormal pinna morphology,... |
OMIM:603457 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Inflamma... |
OMIM:232220 |
8Q24.3 Microdeletion Syndrome |
|
Exocrine pancreatic insufficiency, Cleft maxillary alveolus, Atrioventricular canal defect, Short... |
ORPHA:508488 |
Nephronophthisis 13 |
|
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:614377 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... |
ORPHA:909 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas, Cleft palate, Cardiomegaly |
ORPHA:97297 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Hip contracture, Abnormal pinna morphology, Ivory epiphyses of ... |
OMIM:216400 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Ivory epiphyses of the phalanges of ... |
OMIM:133540 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Microtia, Abnormality of the ankles, Abnormality of the wrist, Cubitus valgus, Recu... |
ORPHA:529962 |
Kaposiform Lymphangiomatosis |
|
Abnormality of the neck, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morp... |
ORPHA:464329 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferation, Jaundic... |
OMIM:208500 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, High palate, Cleft palate, Hypothalamic hamartoma, Ovarian cyst, Bifid tongue, ... |
OMIM:311200 |
1P36 Deletion Syndrome |
|
Annular pancreas, Abnormal cardiac septum morphology, Abnormality of the anus, Abnormality of the... |
ORPHA:1606 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... |
OMIM:608189 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Steatorrhea, Pancreatic fibrosis,... |
OMIM:557000 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Atresia of the external auditory canal, Abnormality of the outer ear, Hearing impairment |
ORPHA:3186 |
Treacher Collins Syndrome 1 |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
OMIM:154500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Microtia, Optic nerve hypoplasia, Atresia of the external auditory canal, Optic atrophy, Low-set ... |
OMIM:236670 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Abnormal Eustachian tube morphology, Lower-limb joint contracture, Tracheomalacia, Recurrent otit... |
ORPHA:513456 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis |
ORPHA:803 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons |
ORPHA:79139 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, High palate, Delayed eruption of teeth, Anteriorly placed anus, Hypogonadism, C... |
OMIM:268400 |
Ablepharon Macrostomia Syndrome |
|
Atresia of the external auditory canal, Hearing impairment, Camptodactyly of finger, Microtia |
ORPHA:920 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypothyroidism,... |
ORPHA:93111 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Monosomy 9P |
|
Abnormal antihelix morphology, Microtia, Anotia, Atresia of the external auditory canal, Low-set ... |
ORPHA:261112 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Paraganglioma, Myocarditis, Elevated circulating catecholamine level, C... |
ORPHA:892 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Ankyloglossia, Cleft palate |
ORPHA:488642 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:608627 |
Pallister-Hall Syndrome |
|
Microtia, Atresia of the external auditory canal, Radial head subluxation, Hip dislocation, Poste... |
OMIM:146510 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Mucopolysaccharidosis Type 2 |
|
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Flexion contractur... |
ORPHA:580 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis |
OMIM:615911 |
Witteveen-Kolk Syndrome |
|
High palate, Type II diabetes mellitus, Decreased response to growth hormone stimulation test, Hi... |
OMIM:613406 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Paraganglioma, Pancreatic cysts |
OMIM:193300 |
Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Pancreatic cysts |
OMIM:613159 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Flexion contractur... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Flexion contractur... |
ORPHA:217093 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology |
OMIM:614298 |
Cornelia De Lange Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Joint stiffness, Blepharitis, Lo... |
ORPHA:199 |
Immunodeficiency 82 With Systemic Inflammation |
|
Joint swelling, Crohn's disease, Osteomyelitis, Gastritis, Colitis, Skin rash, Recurrent skin inf... |
OMIM:619381 |
17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus |
ORPHA:261265 |
Craniofacial Microsomia |
|
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Branchial... |
OMIM:164210 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... |
ORPHA:731 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Fraser Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, External ear malformation, Low-set,... |
ORPHA:2052 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Absent gallbladder, High palate |
ORPHA:556955 |
Doors Syndrome |
|
EEG abnormality, Aspiration pneumonia, Atresia of the external auditory canal, Polyhydramnios, Sa... |
ORPHA:79500 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Syringomyelia, Myelitis |
ORPHA:1320 |
Pallister-Hall Syndrome |
|
Auricular tag, Microtia, Low-set, posteriorly rotated ears, Atresia of the external auditory cana... |
ORPHA:672 |
Bladder Exstrophy |
|
Intestinal malrotation, Umbilical hernia, Abnormality of the anus |
ORPHA:93930 |