| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
| Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
| Pendred Syndrome |
|
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... |
OMIM:274600 |
| Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Feeding difficulties |
OMIM:617787 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
| Deafness, Autosomal Dominant 75 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormal circ... |
ORPHA:2843 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... |
OMIM:616515 |
| Deafness, Autosomal Recessive 35 |
|
Abnormal ear morphology, Sensorineural hearing impairment |
OMIM:608565 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
| Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
| Pendred Syndrome |
|
Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg... |
ORPHA:705 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Impaired pain sensation, Hand tremor, Sensorineural hearing impairment, Steppage gait, Impaired d... |
OMIM:300905 |
| Deafness, Autosomal Recessive 2 |
|
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600060 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Deafness, Autosomal Recessive 67 |
|
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... |
OMIM:610265 |
| Deafness, Autosomal Recessive 100 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618422 |
| Deafness, Autosomal Recessive 31 |
|
Absent vestibular function, Sensorineural hearing impairment |
OMIM:607084 |
| Deafness, Autosomal Recessive 57 |
|
Abnormal vestibular function, Hearing impairment, Sensorineural hearing impairment |
OMIM:618003 |
| Deafness, Autosomal Recessive 89 |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:613916 |
| Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614944 |
| Deafness, Autosomal Recessive 18B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614945 |
| Auditory Neuropathy, Autosomal Dominant 2 |
|
Abnormal speech discrimination, Sensorineural hearing impairment |
OMIM:620384 |
| Deafness, Autosomal Dominant 40 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616357 |
| Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Recessive 117 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619174 |
| Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
| Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
| Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
| Deafness, Autosomal Dominant 66 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
| Deafness, Autosomal Recessive 113 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618410 |
| Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
| Deafness, Autosomal Recessive 99 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618481 |
| Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
| Deafness, Autosomal Dominant 53 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:609965 |
| Deafness, Autosomal Dominant 25 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:605583 |
| Deafness, Autosomal Recessive 15 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... |
OMIM:601869 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment, Ataxia |
OMIM:212850 |
| Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
| Deafness, Autosomal Dominant 76 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618787 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
| Deafness, Autosomal Dominant 4B |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:614614 |
| Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
| Deafness, Autosomal Recessive 13 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 29 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 20 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:604060 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
| Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
| Deafness, X-Linked 4 |
|
High-frequency hearing impairment, Sensorineural hearing impairment |
OMIM:300066 |
| Autism |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:607373 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Distal se... |
OMIM:300614 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... |
ORPHA:52368 |
| Dystonia 4, Torsion, Autosomal Dominant |
|
Hemidystonia, Generalized dystonia, Slender build, Limb dystonia, Gait ataxia, Torticollis, Torsi... |
OMIM:128101 |
| Deafness, Autosomal Recessive 37 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:607821 |
| Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... |
OMIM:301101 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism, Hearing impairment |
OMIM:228355 |
| Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
| Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
| Usher Syndrome, Type I |
|
Absent vestibular function, Sensorineural hearing impairment |
OMIM:276900 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
| Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| Ravine Syndrome |
|
Spasticity, Abnormal auditory evoked potentials, Failure to thrive, Anorexia, Decreased body weig... |
ORPHA:99852 |
| Usher Syndrome Type 1 |
|
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Sub... |
ORPHA:231169 |
| Deafness-Infertility Syndrome |
|
Abnormal vestibular function, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sp... |
OMIM:611102 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| Dystonia 30 |
|
Arm dystonia, Leg dystonia, Diffuse cerebral atrophy, Aggressive behavior, Oromandibular dystonia... |
OMIM:619291 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, Ataxia |
ORPHA:231183 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Abnormality of somatosensory evoked potentials, Dysdiadochokinesis, Impaired vibration sensation ... |
ORPHA:101007 |
| Autosomal Recessive Spastic Paraplegia Type 24 |
|
Scissor gait, Tip-toe gait, Sensorineural hearing impairment |
ORPHA:101004 |
| Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology, Sensorineural hearing impairment |
ORPHA:3465 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:136600 |
| Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Laryngeal dystonia, Limb dystonia, Axial dystonia, Craniofacial dystonia, Lingual dystonia, Torti... |
ORPHA:329466 |
| Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
EEG with parietal sharp waves, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Wr... |
ORPHA:163727 |
| Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
| Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
| Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
| Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
| Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
| Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
| Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
| Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
| Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
| Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
| Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia |
|
Elevated circulating creatine kinase concentration, Hearing impairment, Sensorineural hearing imp... |
OMIM:310490 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Hearing impairment, Sensorineural hearing impairment, Profound sensorineural hearing impairment, ... |
OMIM:619196 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility, Sensorineural hearing impairment |
OMIM:608653 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hearing impairment, Hypotonia, Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity... |
OMIM:620270 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... |
OMIM:303110 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Vertigo, Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Dysphagia, Progressive cerebell... |
OMIM:611694 |
| Fragile X Syndrome |
|
Abnormal head movements, Recurrent hand flapping, Periventricular heterotopia, Macroorchidism, po... |
OMIM:300624 |
| Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia |
OMIM:117210 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
| Striatonigral Degeneration, Infantile |
|
Optic atrophy, Spasticity, Failure to thrive, Dystonia, Dysphagia, Choreoathetosis |
OMIM:271930 |
| Spastic Paraplegia 90A, Autosomal Dominant |
|
Failure to thrive, Appendicular spasticity, Sensorineural hearing impairment, Spastic gait, Dysto... |
OMIM:620416 |
| Primary Dystonia, Dyt13 Type |
|
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... |
ORPHA:98807 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spinocerebellar atrophy, Mildly elevate... |
ORPHA:95433 |
| 7Q31 Microdeletion Syndrome |
|
Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge... |
ORPHA:251061 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Ataxia, Dystonia, Dysphagia |
ORPHA:1171 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... |
ORPHA:320401 |
| Nathalie Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2663 |
| Deafness, Autosomal Recessive 121 |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:620551 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Hearing impairment, Limb ... |
ORPHA:319199 |
| Spastic Paraplegia 90B, Autosomal Recessive |
|
Failure to thrive, Appendicular spasticity, Sensorineural hearing impairment, Dystonia, Dysphagia... |
OMIM:620417 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Cerebral cortical atrophy, Spasticity, Gait ataxia, Dysmetria, Spastic ataxia, Bilateral sensorin... |
ORPHA:314603 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Generalized hypotonia, Dyst... |
OMIM:617899 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... |
OMIM:601382 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Ataxia |
OMIM:208750 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Type ... |
OMIM:274300 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Spasticity, Bruxism, Hypotonia, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... |
ORPHA:90646 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy, Hearing impairment, Progressive hearing impairment, Sensorineural hearing impairme... |
OMIM:614296 |
| Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Cogwheel rigidity, Decreased body weight, Attention deficit hyperactivity disorder, Hypertonia, S... |
OMIM:618284 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... |
ORPHA:52901 |
| Deafness, X-Linked 2 |
|
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... |
OMIM:304400 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Spasticity, Gait ataxia, Rigidity, Hyperactivity, Dystonia, Dysphagia, Impulsivity |
OMIM:620448 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Hearing impairment, Hypotonia, ... |
OMIM:617954 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... |
OMIM:142623 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... |
OMIM:609425 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Hand tremor, Difficulty walking, Decreased nerve conduction velocity, Impaired vibration sensatio... |
ORPHA:352675 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... |
ORPHA:3216 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy |
OMIM:617270 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Absent internal auditory canal, Self-injurious behavior, Profound sensorineural hearing impairmen... |
OMIM:620469 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... |
OMIM:612567 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300495 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b... |
ORPHA:100973 |
| Dystonia 32 |
|
Laryngeal dystonia, Limb dystonia, Torticollis, Dysphagia, Brain atrophy |
OMIM:619637 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
| Lichtenstein-Knorr Syndrome |
|
Vestibular hypofunction, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia,... |
OMIM:616291 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hype... |
OMIM:618718 |
| Dystonia 25 |
|
Limb dystonia, Lingual dystonia, Torticollis, Laryngeal dystonia |
OMIM:615073 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... |
ORPHA:363710 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hearing impairment, Head... |
OMIM:613724 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Branchiootic Syndrome 1 |
|
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... |
OMIM:602588 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Hypothyroidism, Testicular a... |
OMIM:222300 |
| Dystonia 33 |
|
Spasticity, Limb dystonia, Axial dystonia, Dystonia, Axial hypotonia |
OMIM:619687 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Inflexible adherence to routines, Hypotonia, EEG abnormality, Truncal ataxi... |
OMIM:608636 |
| Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sensorineural hearing impairment |
OMIM:620009 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Bruxism, Chorea, Inappropriate laughter, Aggressive behavior, EEG abnormality, Ataxia, Dystonia, ... |
OMIM:619150 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Agitation |
OMIM:617171 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Low-set ears, Testicular atrophy |
OMIM:601163 |
| Episodic Ataxia Type 4 |
|
Vertigo, Abnormal head movements, Ataxia |
ORPHA:79136 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... |
OMIM:601455 |
| Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia, Facial palsy |
OMIM:110050 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Dystonia 6, Torsion |
|
Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis, Writer's cramp, Torsion dystoni... |
OMIM:602629 |
| Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Goiter |
OMIM:274240 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... |
OMIM:611584 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 3 |
|
Spasticity, Limb ataxia, Rigidity, Lower limb spasticity, Dystonia, Dysphagia, Upper limb spasticity |
OMIM:620447 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Spastic... |
ORPHA:251282 |
| Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Spasticity, Hypotonia, Tremor, Hypsarrhythmia, Hyperactivit... |
ORPHA:599373 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... |
OMIM:617519 |
| Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Generalized hypotonia, Hypsarrhythmia, Motor stereotypy, Spastic diplegia |
OMIM:617830 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Sensorineural hearing impairment |
ORPHA:3327 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Cerebral cortical atrophy, Spasticity, Hypotonia, EEG abnormality, Dysto... |
OMIM:617820 |
| 5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Diarrhea, Enterocolitis |
OMIM:260005 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Hypogonadism, Male |
|
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis |
OMIM:241100 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebral cortical atrophy, Cerebellar atrophy, Hand tremor, Hypotonia, Gait ataxia, Recurrent han... |
OMIM:617862 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility, Sensorineural hearing impairment |
ORPHA:94064 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1383 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio... |
OMIM:609136 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia |
ORPHA:309169 |
| Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment |
OMIM:238340 |
| Primary Dystonia, Dyt17 Type |
|
Craniofacial dystonia, Generalized dystonia, Torticollis |
ORPHA:370103 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1490 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Chorea, Stereotypical hand wringing, EEG abnormality, Dystonia, Axial hy... |
OMIM:618760 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Hearing impairment, Goiter |
OMIM:617577 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Cerebral atrophy, Generalized hypotonia, Hypotonia, Obesity, Sensorineural hearing impairment, Lo... |
OMIM:616756 |
| Hyperprolinemia, Type I |
|
Generalized hypotonia, Hypotonia, Aggressive behavior, Hyperactivity, EEG abnormality, Ataxia, Mo... |
OMIM:239500 |
| Dystonia 22, Adult-Onset |
|
Upper limb postural tremor, Focal dystonia, Retrocollis, Torticollis |
OMIM:620456 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Cerebral atrophy, Inability to walk, Bruxism, Stereotypical hand w... |
OMIM:618497 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Hypogonadism, Facial diplegia, Obsessive-compulsive trait, Testicular atrophy, Dy... |
OMIM:160900 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Abnormal ... |
OMIM:618404 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Violent behavior, Chorea, Limb dystonia, Tremor, Rigidity, Oromandibul... |
ORPHA:216873 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Hypotonia, Lower limb spasti... |
OMIM:619389 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Adult onse... |
ORPHA:1368 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Sensorineural hearing imp... |
OMIM:300475 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis, Sensorineural hearing impairment |
OMIM:600193 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Agitation, Tremor, Compulsive behaviors, Dystonia, Axial hypotonia |
OMIM:619651 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma |
OMIM:188550 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:95716 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Optic atrophy, Arm dystonia, Undetectable visual evoked potentials, Hearing impairment, Progressi... |
OMIM:601338 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Falls, Hearing impairment, Difficulty walking, Distal sensory impairment, Sensorineural hearing i... |
OMIM:617882 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Large fleshy ears, Gait ataxia, Tremor, Impaired tactile sensation, Ataxia, Overfol... |
OMIM:619092 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Spasticity, Sensorineural hearing impairment, Ataxia, Dystonia, Athetosis |
OMIM:612951 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Thyroid Dyshormonogenesis 2A |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
OMIM:274500 |
| Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Spastic paraplegia, Dystonia, Laryngeal dystonia |
OMIM:619681 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Progressive cerebellar ataxia, Cerebral atrophy, Impaired vibration sensation in the lower limbs,... |
ORPHA:352641 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... |
ORPHA:382 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... |
OMIM:188570 |
| Familial Paroxysmal Ataxia |
|
Vertigo, Cerebellar vermis atrophy, Tinnitus, Torticollis, Ataxia, Dystonia |
ORPHA:97 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Developmental And Epileptic Encephalopathy 107 |
|
Feeding difficulties in infancy, Motor stereotypy |
OMIM:620033 |
| N-Acetylaspartate Deficiency |
|
Generalized hypotonia, Self-mutilation, Decreased body weight, Truncal ataxia, Motor stereotypy |
OMIM:614063 |
| Mepan Syndrome |
|
Optic atrophy, Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Cerebral atrophy,... |
ORPHA:508093 |
| Apert Syndrome |
|
Optic atrophy, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineur... |
ORPHA:87 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia |
OMIM:615541 |
| Branchiootorenal Syndrome 1 |
|
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Euthyroid goiter, I... |
OMIM:113650 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Optic nerve hypoplasia, Somatic sensory dysfunction, Impaired pain ... |
ORPHA:101085 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Cerebellar atrophy, Hearing impairment, Failure to thrive, Generalized hypotonia, ... |
OMIM:618237 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Large earlobe, Decrease... |
OMIM:305400 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Hearing impairment, Distal sensory impairment, Sensorineural hearing impairment, G... |
OMIM:311070 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Developmental And Epileptic Encephalopathy 7 |
|
Dystonia, EEG with burst suppression, Hypotonia, Spastic tetraparesis |
OMIM:613720 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment |
OMIM:613076 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... |
OMIM:617695 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis, Sensorineural hearing impairment |
OMIM:616460 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Spastic paraplegia, Dystonia, Spastic ataxia, Dysphagia |
OMIM:108600 |
| Ciliary Dyskinesia, Primary, 46 |
|
Recurrent otitis media, Hearing impairment, Reduced sperm motility |
OMIM:619436 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Hearing impairment, Hypotonia, Tremor, Dystonia, Progressive cerebellar ataxia |
ORPHA:139485 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Self-injurious behavior, Spasticity, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Bru... |
OMIM:614254 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea... |
OMIM:619947 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Dystonia, Sensory ataxia, Rigidity |
OMIM:619661 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Hypotonia, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor... |
OMIM:619470 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Paresthesia, Aggressive behavior, Lower limb spasticity, Ataxia, Torsion dystonia, Dyston... |
ORPHA:98811 |
| Dystonia 23 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Limb dystonia, Axial dystonia, Tortic... |
OMIM:614860 |
| Non-Syndromic Genetic Deafness |
|
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... |
ORPHA:87884 |
| Christianson Syndrome |
|
Cerebral cortical atrophy, Cerebellar atrophy, Inappropriate laughter, Gait ataxia, Dysphagia, Ne... |
ORPHA:85278 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Dystonia, Spasticity, Tremor, Ataxia |
OMIM:614561 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Cerebral atrophy, Bruxism, Tremor, Self-mutilation, Ataxia, Bilateral sensorineura... |
OMIM:619422 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Spastic tetraparesis, Dystonia |
OMIM:620515 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Progressive sensorineural hearing impairment, Distal sensory impairment, Sensorineural hearing im... |
OMIM:607736 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Dyst... |
OMIM:617145 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Hyperalaninemia, Sensorineural hearing impairment |
ORPHA:2597 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Severe muscular hypotonia,... |
OMIM:614932 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Primary amenorrhea, Testicular atrophy, Premature ovarian insuf... |
OMIM:157640 |
| Epilepsy With Eyelid Myoclonia |
|
Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple... |
ORPHA:139431 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... |
OMIM:617638 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Cerebral cortical atrophy, Inappropriate laughter, Stereotypical hand wringing, Gait disturbance,... |
OMIM:614104 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Limb hypertonia, EEG abnormality, Dysto... |
OMIM:618247 |
| Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... |
ORPHA:50815 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Sensorineural hearing impairment, Dystonia, Hearing impairment, Ataxia |
OMIM:616684 |
| Dystonia 11, Myoclonic |
|
Hypotonia, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors |
OMIM:159900 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Hypotonia, Positive Romberg sign, Dysmetria, Co... |
OMIM:618088 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Infertility, Immotile sperm |
OMIM:618449 |
| Peroxisome Biogenesis Disorder 7B |
|
Sensorineural hearing impairment |
OMIM:614873 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmet... |
OMIM:610185 |
| Dystonia 17, Torsion, Autosomal Recessive |
|
Focal dystonia, Torticollis |
OMIM:612406 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Aganglionic megacolon, White eyebrow, Wh... |
OMIM:600501 |
| Smith-Magenis Syndrome |
|
Abnormal nerve conduction velocity, Abnormality of the outer ear, Head-banging, Hearing impairmen... |
OMIM:182290 |
| Dystonia 22, Juvenile-Onset |
|
Dysdiadochokinesis, Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lowe... |
OMIM:620453 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Sensorineural... |
OMIM:617951 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Hearing impairment, Inability to walk, Hypsarrhythmia, Motor stereotypy, Macrotia |
OMIM:619877 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Hand tremor, Writer's cramp |
OMIM:608105 |
| Episodic Ataxia, Type 9 |
|
Vertigo, Dystonia, Paroxysmal vertigo, Episodic ataxia |
OMIM:618924 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Feeding difficulties |
OMIM:616341 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Sensorineural hearing impai... |
OMIM:118300 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Hypotonia, Motor stereotypy, Ataxia |
OMIM:618709 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Hypotonia, Ataxia, Dystonia |
OMIM:618276 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Dysphagia, Paroxysmal dystonia, Torticollis |
OMIM:118800 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Soma... |
ORPHA:99950 |
| 47,Xyy Syndrome |
|
Low-set ears, Varicocele, Male infertility, Azoospermia, Cryptorchidism, Attention deficit hypera... |
ORPHA:8 |
| Dystonia 31 |
|
Arm dystonia, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writer's cramp, Dysphagia |
OMIM:619565 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Delayed brainstem auditory evoked response conduction time, Spasticity, Optic atrophy, Fa... |
OMIM:616881 |
| Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Gait ataxia, Dysmetria, Attention deficit hyperactivity disorder, Focal dysto... |
OMIM:605361 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Dystonia, Hypsarrhythmia, Spastic tetraplegia, Axial hypotonia |
OMIM:251280 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Acroparesthe... |
ORPHA:206443 |
| Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Chorea, Caudate atrophy, Weight loss, Dystonia |
ORPHA:98934 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Torticollis, Ataxia, Dystonia, Axial hypotonia |
OMIM:618425 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Abnormal head movements, Chorea, Gait ataxia, Dysm... |
ORPHA:157941 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Generalized hypotonia, Failure to thri... |
OMIM:613670 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... |
ORPHA:96148 |
| Usher Syndrome, Type Iiia |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:276902 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Chorea, Tremor, Rigidity, Ataxia, Dystonia |
ORPHA:401901 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Optic atrophy, Cerebellar atrophy, Failure to thrive, Corpus callosum atrophy, Ataxia, Dystonia, ... |
OMIM:619310 |
| Myoclonus-Dystonia Syndrome |
|
Compulsive behaviors, Dystonia, Torticollis, Writer's cramp |
ORPHA:36899 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Bor Syndrome |
|
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... |
ORPHA:107 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:85297 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Progressive cerebellar ataxia, Dystonia, Failure to thrive, Spastic tetraparesis |
ORPHA:67046 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy, Macrotia |
DECIPHER:45 |
| Gorham-Stout Disease |
|
Abnormality of the internal auditory canal, Hearing impairment, Torticollis |
ORPHA:73 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Cerebral atrophy, Hypotonia, Tremor, Dysmetria, Lower limb spasticity, Ataxia... |
OMIM:617916 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Spasticity, Global brain atrophy, Episodic ataxia, Vertigo, Hypotonia, Gait ataxia, Lower limb sp... |
OMIM:614458 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Autonomic bladder dysfunction, Action tremor, Distal sensory impairment, Sensorineural hearing im... |
ORPHA:99027 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Cerebellar vermis ... |
OMIM:611390 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... |
ORPHA:1215 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Spasticity, Hippocampal atrophy, Aggressive behavior, Corpus callosum atrophy, Hyper... |
OMIM:301107 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Tip-toe gait, Hand tremor, Difficu... |
OMIM:302800 |
| Hematuria, Benign Familial, 2 |
|
Sensorineural hearing impairment |
OMIM:620320 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Low-set ears, Optic atrophy, Neonatal hypotonia, Hypotonia, Hypertonia, Bilateral sensorineural h... |
OMIM:264470 |
| 3-Methylglutaconic Aciduria, Type I |
|
Optic atrophy, Spasticity, Failure to thrive, Cerebral atrophy, Self-mutilation, Ataxia, Dystonia... |
OMIM:250950 |
| Lowe-Kohn-Cohen Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2408 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Impaired pain sensation, Cerebral atrophy, Chorea, Gait ataxia, Aggressive behavior, ... |
ORPHA:500180 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Bruxism, Tremor, Sensorineural hearing impairment, Protruding ear, Aggressive behav... |
OMIM:618342 |
| Episodic Ataxia, Type 2 |
|
Abnormal vestibular function, Episodic ataxia, Vertigo, Cerebellar vermis atrophy, Paresthesia, T... |
OMIM:108500 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Cerebral atrophy, Tremor, Hyperactivity, Neuronal loss in central nervous system, Ata... |
OMIM:615924 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
ORPHA:319487 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Gait ataxia, S... |
OMIM:618917 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Spasticity, Pill-rolling tremor, Neonatal hypotonia, Impaired pain sensatio... |
ORPHA:3095 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Infantile muscular hypotonia, Ataxia, Dystonia, Restlessness, Spastic tetraplegia |
ORPHA:263410 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter |
OMIM:616534 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy, Hemidystonia, Spastic gait, Severe temper tantrums, Spastic tetraparesis |
OMIM:619052 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Gait distu... |
ORPHA:544254 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... |
OMIM:300635 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
| Folinic Acid-Responsive Seizures |
|
Optic atrophy, Frontotemporal cerebral atrophy, Cerebellar atrophy, Spastic tetraparesis, EEG wit... |
ORPHA:79097 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Oral motor hypotonia, Chorea, Gait ataxia, Rigidit... |
ORPHA:248111 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2027 |
| Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... |
OMIM:613074 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Tremor, Dysmetria, Cachexia, Ataxia, Dystonia, Dysphagia |
OMIM:618093 |
| Developmental And Epileptic Encephalopathy 69 |
|
Cerebral cortical atrophy, Hypsarrhythmia, EEG abnormality, Corpus callosum atrophy, Dystonia, Sp... |
OMIM:618285 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Optic atrophy, Spasticity, Failure to thrive, Cogwheel rigidity, Gait ataxia, Rigidity, D... |
ORPHA:225154 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Colitis |
OMIM:617006 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... |
OMIM:235200 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Peripapillary atrophy, Retinal pigment epithelial mottling, Sensorineural hearing impairment |
OMIM:617879 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Prominent ear helix, Large earlobe, Inability to walk, Hypsarrhythmia... |
ORPHA:411986 |
| Crouzon Syndrome |
|
Narrow internal auditory canal, Optic atrophy, Conductive hearing impairment, Hearing impairment |
ORPHA:207 |
| Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Recurrent hand flapping, Hypsarrhythmia, EEG abnormality, Dystonia, Athetosis |
OMIM:618141 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Torticollis, Writer'... |
OMIM:128230 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Bruxism, Agitation, ... |
OMIM:617435 |
| Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... |
OMIM:611572 |
| Xq21 Microdeletion Syndrome |
|
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... |
ORPHA:1435 |
| Ogden Syndrome |
|
Low-set ears, Shuffling gait, Abnormal head movements, Cerebral atrophy, Torticollis, Macrotia |
ORPHA:276432 |
| Siddiqi Syndrome |
|
Limb dystonia, Sensorineural hearing impairment |
OMIM:618635 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spasticity, Amyotrophic lateral sclerosis, Abnormal exteroceptive sensation, Spasticity of facial... |
OMIM:205100 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebral cortical atrophy, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Hearing impai... |
OMIM:615157 |
| Raynaud-Claes Syndrome |
|
Cerebral cortical atrophy, Cerebral atrophy, Generalized hypotonia, Hypotonia, Aggressive behavio... |
OMIM:300114 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Tremor, Torticollis, Ataxia, Dystonia, Axial hypotonia |
OMIM:607317 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Optic atrophy, Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia, Dystonia, ... |
OMIM:617807 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Resting tremor, Macrotia, EEG with generalized slow activity, Bruxism, Obesit... |
OMIM:300055 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... |
ORPHA:3000 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Spasticity, Failure to thrive, Generalized hypotonia, Caudate atrophy, Dystonia, S... |
OMIM:618238 |
| Primary Dystonia, Dyt21 Type |
|
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Axial dystonia, Paroxysma... |
ORPHA:306734 |
| Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Neonatal hypotonia, EEG abnormality, Ataxia, Dystonia, Motor stereotypy,... |
OMIM:618218 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Spasticity, Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia,... |
OMIM:617493 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Optic atrophy, Cerebellar atrophy, Neonatal hypotonia, Cerebral atrophy,... |
OMIM:619690 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Cerebral cortical atrophy, Inability to walk, Bruxism, Chorea, Paroxysma... |
OMIM:618004 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, C... |
OMIM:617672 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Self-injurious behavior, Cerebral cortical atrophy, Cerebellar atrophy, Hypotonia, Chorea, EEG wi... |
OMIM:619922 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Aggre... |
ORPHA:329284 |
| Sulfite Oxidase Deficiency, Isolated |
|
Ataxia, Generalized dystonia, Generalized hypotonia, Macrotia, Cerebral atrophy, Agitation, Infan... |
OMIM:272300 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Spasticity, Cerebral cortical atrophy, Hearing impairment, Failure to thrive in in... |
ORPHA:702 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Kinetic tremor |
ORPHA:101109 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608049 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Generalized hypotonia, Limb dystonia, Gait ataxia, Craniofaci... |
ORPHA:71517 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Spasticity, Hearing impairment, Generalized hypotonia, Hypotonia, Atrophy/Degeneration affecting ... |
OMIM:616277 |
| Autosomal Recessive Spastic Paraplegia Type 56 |
|
Spastic gait, Spastic paraplegia, Dystonia |
ORPHA:320411 |
| Spinocerebellar Ataxia 12 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... |
OMIM:604326 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Cerebral atrophy, Generalized hypotonia, Hypotonia, Recurrent hand flapp... |
OMIM:617268 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Spastic paraplegia, Optic atrophy, Global brain atrophy, Failure to thrive, Generalized d... |
OMIM:312080 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Low-set ears, Cerebral cortical atrophy, Global brain atrophy, Bilateral conductive hearing impai... |
OMIM:617802 |
| Neuropathy, Hereditary Sensory, Type Ie |
|
Hearing impairment, Cerebral atrophy, Sensorineural hearing impairment, Ataxia, Impulsivity |
OMIM:614116 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
| Radiation Proctitis |
|
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
| Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment |
OMIM:217400 |
| Striatonigral Degeneration, Childhood-Onset |
|
Hypotonia, Craniofacial dystonia, Hypertonia, Dystonia, Dysphagia |
OMIM:617054 |
| Developmental And Epileptic Encephalopathy 17 |
|
Cerebral atrophy, EEG with burst suppression, Chorea, Hypsarrhythmia, Dystonia, Athetosis |
OMIM:615473 |
| Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Rigidity,... |
OMIM:607136 |
| Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
| Mohr-Tranebjaerg Syndrome |
|
Spasticity, Progressive sensorineural hearing impairment, Tremor, Postlingual sensorineural heari... |
OMIM:304700 |
| Optic Atrophy 11 |
|
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... |
OMIM:617302 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Hearing impairment, Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduc... |
ORPHA:320391 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Dystonia, Choreoathetosis, Torticollis |
OMIM:620245 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... |
ORPHA:95427 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... |
ORPHA:79263 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:610738 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Low-set ears, Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behav... |
OMIM:620021 |
| Usher Syndrome, Type Iv |
|
Abnormal vestibular function, Bone spicule pigmentation of the retina, Progressive sensorineural ... |
OMIM:618144 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebellar atrophy, Optic atrophy, EEG with irregular generalized spike and wave complexe... |
ORPHA:352596 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
| Cowden Syndrome 5 |
|
Thyroid adenoma, Hearing impairment, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydro... |
OMIM:615108 |
| Dystonia-Deafness Syndrome 1 |
|
Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Sensorineural hear... |
OMIM:607371 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Broad-based gait, Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Ataxia, Dysphagia |
OMIM:618098 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Failure to thrive, Hypotonia, Gait ataxia, Intention tremor, Dysmetria, Hypertonia, Optic disc pa... |
OMIM:617964 |
| Deafness, Autosomal Recessive 77 |
|
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:613079 |
| Branchiootic Syndrome |
|
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... |
ORPHA:52429 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Hypotonia, Tremor, Abnormal autonomic nervous system physiology, Ataxia, Dysto... |
OMIM:618049 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Spastic paraparesis, Neurodegeneration, Rigidity, Motor tics, Oromandibular dystonia, Compulsive ... |
OMIM:615643 |
| Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy, Cerebral atrophy, Hypotonia, Severe muscular hypotonia, Dystonia |
OMIM:615338 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Spastic tetraparesis, Neurodegeneration, D... |
OMIM:612319 |
| Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Hypotonia, Chorea, Hypsarrhythmia, Dystonia, Axial hypotonia |
OMIM:616139 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Generalized hypotonia, Obesity, Trem... |
ORPHA:480907 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter |
OMIM:180295 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Low-set ears, Spasticity, Chorea, EEG abnormality, Hypertonia, Dystonia, Choreoathetosis, Axial h... |
OMIM:618451 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1144 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:275200 |
| Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Hearing impairment, Premature graying of hair, White forelock, Sensor... |
ORPHA:895 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Gait ataxia, Intention tremor, Dysmetria, Sensorineural hearing impairment, Vestib... |
ORPHA:504476 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis, Sensorineural hearing impairment |
ORPHA:66633 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... |
OMIM:619260 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Cerebral cortical atrophy, Inappropriate behavior, Rigidity, Disinhibition, Aggressive behavior, ... |
OMIM:600795 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... |
OMIM:620292 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Progressive spastic paraplegia, Hypoto... |
ORPHA:280763 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Low-set ears, Spasticity, Generalized hypotonia, Attention deficit hyperactivity disorder, Repeti... |
ORPHA:352490 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Ataxia, Dystonia, Athetosis, Axial hypotonia |
OMIM:615159 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Cerebellar vermis atrophy, Hypotonia, Limb dystonia, Torticollis, Ataxia, Small for gestational a... |
OMIM:619054 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Spastic gait, Dystonia, Lower limb spasticity, Upper limb spasticity |
OMIM:619966 |
| Middle Ear Neuroendocrine Tumor |
|
Abnormal tympanic membrane morphology, Unilateral conductive hearing impairment, Sensorineural he... |
ORPHA:100084 |
| Coffin-Siris Syndrome 6 |
|
Low-set ears, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperactivity di... |
OMIM:617808 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Hearing impairment, Inability to walk, Gait ataxia, Recurrent hand flapping, ... |
OMIM:619580 |
| Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches, EEG abnormality, Sensorineural hearing impairment |
ORPHA:3239 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Motor stereotypy, Inability to walk |
OMIM:613443 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Dystonia, Generalized hypotonia |
OMIM:616763 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
| Potocki-Lupski Syndrome |
|
Hearing impairment, Oral-pharyngeal dysphagia, Hypocholesterolemia, EEG abnormality, Hyperactivit... |
OMIM:610883 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Dysphagia, Disinhibition |
OMIM:612069 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, Motor stereotypy, Macrotia |
OMIM:618504 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Self-mutilation, Gait disturbance, Motor stereotypy, Macrotia |
ORPHA:457240 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal choreoathetosis, Normal interictal EEG, Paroxysmal dystonia |
OMIM:602066 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Chorea, Rigidity, Torticollis, Dystonia, Choreoathetosis |
ORPHA:98810 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypotonia, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis |
OMIM:261630 |
| Cowden Syndrome 6 |
|
Thyroid adenoma, Hearing impairment, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydro... |
OMIM:615109 |
| Primary Dystonia, Dyt6 Type |
|
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Craniofacial dystonia, Li... |
ORPHA:98806 |
| Leigh Syndrome, Nuclear |
|
Optic atrophy, Spasticity, Failure to thrive, Generalized hypotonia, Hypotonia, Sensorineural hea... |
OMIM:256000 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Laryngeal dystonia, Retrocollis, Tremor, Craniofacial dystonia, Torticollis, Oromandi... |
OMIM:617284 |
| Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Abnormal nerve conduction velocity, Cerebellar atrophy, Generalized hypotonia, Abn... |
ORPHA:98755 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic nervous system physiology, Goiter |
ORPHA:83601 |
| Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Spastic paraplegia, Dystonia |
OMIM:615030 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... |
OMIM:275000 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Failure to thrive, Cerebral atrophy, Hypotonia, Motor stereotypy |
OMIM:617393 |
| Spastic Paraplegia, Ataxia, And Impaired Intellectual Development |
|
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Lower li... |
OMIM:607565 |
| Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Low-set ears, Spasticity, Continuous spike and waves during slow sleep, Macro... |
OMIM:620149 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Generalized hypotonia, Hypotoni... |
OMIM:614739 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Dystonia, Chorea, Choreoathetosis, Ataxia |
OMIM:125370 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... |
OMIM:613265 |
| Esophagitis, Eosinophilic, 2 |
|
Vomiting, Dysphagia, Esophagitis |
OMIM:613412 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
| Esophagitis, Eosinophilic, 1 |
|
Vomiting, Dysphagia, Esophagitis |
OMIM:610247 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Weight loss, Dystonia |
OMIM:606438 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Failure to thrive, Generalized hypotonia, Decreased nerve conduction velocity, Limb dystonia, Sen... |
ORPHA:319514 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Developmental And Epileptic Encephalopathy 44 |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Dystonia, Athetosis, Axial h... |
OMIM:617132 |
| Otosclerosis 11 |
|
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... |
OMIM:620576 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Broad-based gait, Motor stereotypy, Hearing impairment |
OMIM:616351 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Optic atrophy, Spasticity, Cerebral cortical atrophy, Hypertonia, Facial hypotonia, Dystonia, Dys... |
OMIM:615809 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Optic atrophy, Spastic paraparesis, Decreased motor nerve conduction velocity, Cerebral atrophy, ... |
OMIM:608804 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529799 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Limb dystonia, Tremor, Rigidity, Axial hypotonia |
OMIM:605407 |
| Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Spasticity, EEG abnormality, Ataxia |
OMIM:617829 |
| Warsaw Breakage Syndrome |
|
Cupped ear, Hearing impairment, Optic disc coloboma, Hypermelanotic macule, Hypoplasia of the coc... |
OMIM:613398 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Gonadal dysgenesis, Low-set, posteriorly rotated ears, Hypogonadism, Cryptorc... |
ORPHA:3306 |
| Immunodeficiency 76 |
|
Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... |
ORPHA:26790 |
| Microcephaly-Deafness-Intellectual Disability Syndrome |
|
Low-set ears, Protruding ear, Cupped ear, Sensorineural hearing impairment |
ORPHA:2533 |
| Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Self-injurious behavior, Stereotypical hand wringing, Sensorineural hearing i... |
OMIM:600430 |
| Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
| Foxg1 Syndrome |
|
Spasticity, Bruxism, Hypotonia, Decreased body weight, Stereotypical hand wringing, Paroxysmal bu... |
ORPHA:561854 |
| Huntington Disease-Like 3 |
|
Cerebral cortical atrophy, Broad-based gait, Abnormal head movements, Chorea, Progressive gait at... |
ORPHA:157946 |
| 4Q21 Microdeletion Syndrome |
|
Low-set ears, Self-injurious behavior, Hearing impairment, Tremor, Motor stereotypy |
ORPHA:238750 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Spasticity, Progressive spastic paraplegia, Cerebral atrophy, Obesity, Sensorineural hearing impa... |
ORPHA:464282 |
| Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Spasticity, Dystonia, Athetosis, Dysphagia |
OMIM:500001 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidit... |
OMIM:606159 |
| Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cerebral cortical atrophy, Sensorineural hearing impairment, Abnormality o... |
ORPHA:231178 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... |
ORPHA:990 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Recurrent pneumonia, Recurrent sinusitis, Colitis, Chronic d... |
OMIM:619281 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment |
OMIM:221700 |
| Immunodeficiency 70 |
|
Recurrent sinusitis, Colitis, Achalasia, Celiac disease, Furuncle |
OMIM:618969 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Hypotonia, Tremor, Rigidity, Ataxia, Dystonia, Cho... |
OMIM:612438 |
| Developmental And Epileptic Encephalopathy 6B |
|
Hypotonia, Chorea, EEG with spike-wave complexes (>3.5 Hz), Ataxia, Multifocal epileptiform disch... |
OMIM:619317 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor st... |
OMIM:617044 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Dystonia, Athetosis, Chorea, Writer's cramp |
ORPHA:98809 |
| Coffin-Siris Syndrome 7 |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul... |
OMIM:618027 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617992 |
| Developmental And Epileptic Encephalopathy 53 |
|
Hypotonia, Dystonia, Hypsarrhythmia, Spastic tetraplegia |
OMIM:617389 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Hearing i... |
OMIM:616672 |
| Friedreich Ataxia |
|
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Hearing impairment, Chorea,... |
ORPHA:95 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... |
OMIM:613239 |
| Otofaciocervical Syndrome 1 |
|
Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea, Conductive hearing impairment |
OMIM:166780 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Skin rash, Ileal ulcer, Anterior uveitis |
OMIM:616744 |
| Hemidystonia-Hemiatrophy Syndrome |
|
Dystonia, Limb dystonia |
ORPHA:306741 |
| Spinocerebellar Ataxia Type 17 |
|
Blepharospasm, Ataxia, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Cerebellar Purkinje laye... |
ORPHA:98759 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Chronic constipation |
OMIM:618906 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Chroni... |
OMIM:612650 |
| Madras Motor Neuron Disease |
|
Optic atrophy, Sensorineural hearing impairment, Tinnitus, Facial palsy, Dysphagia |
ORPHA:137867 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
| Spinocerebellar Ataxia Type 2 |
|
Cerebral cortical atrophy, Generalized hypotonia, Postural tremor, Chorea, Gait ataxia, Dystonia,... |
ORPHA:98756 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Diffuse cerebellar atrophy, Abnormal head movements, Limb ataxia, Progressive gait ataxia, Trunca... |
ORPHA:247815 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne |
OMIM:604416 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
EEG with abnormally slow frequencies, Spasticity, Spastic tetraparesis, Abnormality of somatosens... |
ORPHA:280219 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Increased circulating ferritin concentration, Diffuse cerebral atrophy, Head titubation, Absent b... |
ORPHA:3240 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized hypotonia, Tremor, Rigidity, EEG abnormality, Ataxia, Dystonia |
OMIM:617836 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Sensorineural ... |
OMIM:612674 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Tremor, Diffuse cerebral atrophy, Dystonia |
ORPHA:330050 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Low-set ears, Self-injurious behavior, Broad-based gait, Cupped ear, Cerebellar vermis atrophy, L... |
OMIM:617101 |
| Cerebellar Ataxia, Cayman Type |
|
Cerebellar atrophy, Hypotonia, Gait ataxia, Ataxia, Truncal ataxia, Dystonia, Intention tremor |
OMIM:601238 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia, Chorea |
OMIM:611031 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Aggressive behavior, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding di... |
OMIM:616809 |
| Sandifer Syndrome |
|
Gastroesophageal reflux, Abnormal head movements, Esophagitis, Hiatus hernia, Hematemesis, Episod... |
ORPHA:71272 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Failure to thrive, Generalized hypotonia, Hypotonia, Truncal ataxia, Dystoni... |
OMIM:614407 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... |
OMIM:225250 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Hyperactivity, Motor ster... |
OMIM:617751 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
| X-Linked Intellectual Disability, Snyder Type |
|
Low-set ears, Cupped ear, Abnormality of the Leydig cells, Asymmetry of the ears, Cryptorchidism,... |
ORPHA:3063 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Dysmetria, Ataxia, Hypoesthesia, Dystonia, Dysphagia, Brain atrophy |
OMIM:618317 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:615654 |
| Dystonia 15, Myoclonic |
|
Dystonia, Writer's cramp |
OMIM:607488 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing impairment |
OMIM:214300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Low-set ears, Macrotia, Bruxism, Hypotonia, Chorea, Rigidity, Decreased body ... |
OMIM:300260 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Spasticity, Cerebral cortical atrophy, Autonomic bladder dysfunction, Postural tre... |
ORPHA:447896 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7 |
|
Dystonia, Hypotonia, Brain atrophy |
OMIM:620359 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia |
OMIM:615703 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... |
ORPHA:411696 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Chorea, Tremor |
OMIM:314250 |
| Dystonia 37, Early-Onset, With Striatal Lesions |
|
Generalized dystonia, Hypotonia, Leg dystonia, Chorea, Ataxia, Dysphagia, Choreoathetosis |
OMIM:620427 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Low-set ears, Recurrent hand flapping, EEG abnormality, Unsteady gait, Pica |
OMIM:618480 |
| Thyroid Lymphoma |
|
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter |
ORPHA:97285 |
| Glut1 Deficiency Syndrome 2 |
|
Cerebral atrophy, Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Gait ataxia, EEG with occipital epileptiform discharges, Dysmetria, Tremor, Dyston... |
ORPHA:254881 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Generalized hypotonia, Hypotonia, Tremor... |
OMIM:128100 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineural hearing impairment,... |
ORPHA:500159 |
| Huntington Disease |
|
Degeneration of the striatum, Decreased body mass index, Oral-pharyngeal dysphagia, Cerebral atro... |
ORPHA:399 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... |
OMIM:277580 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Acroparesthesia, So... |
ORPHA:206448 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Oculogyric crisis, Generalized hypotonia, Attention deficit hyperactivity disorder, Limb hyperton... |
OMIM:617384 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, EEG with continuous slow activity, Inappropriate behavior, Disinhibition, A... |
ORPHA:275864 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Tremor, Rigidity, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Dysph... |
OMIM:261640 |
| Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia |
OMIM:128200 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Frontotemporal cerebral atrophy, Hearing impairment, Cerebral atrophy, Spastic tet... |
ORPHA:391428 |
| Caribbean Parkinsonism |
|
Cerebral cortical atrophy, Autonomic bladder dysfunction, Action tremor, Rigidity, Progressive ga... |
ORPHA:97355 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon, Sensorineural hearing impairment |
ORPHA:2155 |
| Cowden Syndrome 1 |
|
Thyroid adenoma, Hearing impairment, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyp... |
OMIM:158350 |
| 22Q11.2 Duplication Syndrome |
|
Hearing impairment, Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compul... |
ORPHA:1727 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Bilateral sensorineural hearing impairment, Hearing impairment, Sensorineural hearing impairment |
OMIM:620536 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Sensorineural hearing impairment |
ORPHA:3225 |
| Deafness And Myopia |
|
Sensorineural hearing impairment |
OMIM:221200 |
| Maffucci Syndrome |
|
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla... |
ORPHA:163634 |
| Deafness, Autosomal Dominant 64 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614152 |
| Deafness, Autosomal Dominant 67 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:616340 |
| Deafness, Autosomal Dominant 36 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:606705 |
| Deafness, Autosomal Dominant 72 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:617606 |
| Deafness, Autosomal Dominant 82 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:619804 |
| Deafness, Y-Linked 1 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
| Deafness, Autosomal Dominant 43 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
| Deafness, Autosomal Dominant 33 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
| Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Dystonia, Cerebral atrophy |
OMIM:610181 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Failure to thrive, Infantile muscular hypotonia, Hypertonia, Dystonia |
ORPHA:26792 |
| Continuous Spikes And Waves During Sleep |
|
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, EEG with... |
ORPHA:725 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Aggressive behavior, Hyp... |
OMIM:619738 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Compulsive be... |
OMIM:618430 |
| Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Sensorineural hearing impairment, Ataxi... |
OMIM:615911 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Cerebellar atrophy, Failure to thrive, Generalized hypotonia, Hypotonia, Ataxia, D... |
OMIM:618226 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, EEG abnormality, Ataxia, Dystonia... |
ORPHA:313772 |
| Infantile Krabbe Disease |
|
Hyperesthesia, Delayed brainstem auditory evoked response conduction time, Spasticity, Optic atro... |
ORPHA:206436 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Generalized hypotonia, Axial dystonia, Optic disc pallor, Dystonia, Dysphagia |
OMIM:618230 |
| Combined Oxidative Phosphorylation Deficiency 35 |
|
Spasticity, Failure to thrive, Cerebral atrophy, Generalized hypotonia, EEG abnormality, Dystonia |
OMIM:617873 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Oculogyric crisis, Hypotonia, Chorea, Rigidity, Opisthotonus, Hypsarrhythmia, Hypertonia, Ataxia,... |
ORPHA:13 |
| 48,Xxyy Syndrome |
|
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Attention defi... |
ORPHA:10 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter |
OMIM:210740 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, EEG abnormality, Hypertonia, Ataxia, Dystonia, Choreoathetosis |
ORPHA:71277 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Tremor, Jerky head movements, Focal dystonia, Dysphagia |
ORPHA:240103 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder, Interictal epileptiform... |
OMIM:619157 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... |
OMIM:618108 |
| Immunodeficiency 60 And Autoimmunity |
|
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis |
OMIM:618394 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:605594 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... |
ORPHA:64744 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Dystonia, Spasticity, Choreoathetosis, Axial hypotonia |
OMIM:614249 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Abnormal peripheral action ... |
ORPHA:457205 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Infantile axial hypotonia, Tremor, Scissor gait... |
ORPHA:521406 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Hypotonia, Pontocerebellar atrophy, Sensorineural hearing impairment, Protruding ear,... |
OMIM:617854 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Aggressive behavior, Hyperactivity, Premature ovarian insufficiency, Motor stereotypy, Macrotia |
ORPHA:391307 |
| Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm... |
ORPHA:209905 |
| 16P11.2P12.2 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Dystonia |
ORPHA:261204 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Dystonia, Ataxia, Spastic diplegia |
OMIM:619065 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Diffuse cerebral atrophy,... |
OMIM:617710 |
| Alternating Hemiplegia Of Childhood 2 |
|
Dystonia, Choreoathetosis, Ataxia |
OMIM:614820 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Low-set ears, Abnormal anterior horn cell morphology, Cerebral atrophy, Generalized hypotonia, Fa... |
OMIM:611890 |
| Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Short-segment aganglionic megacolon, Sensorineural hearing impairment |
OMIM:619465 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Fixated interests, Recurrent otitis media, Unilateral cryptorchidism, Recurrent hand flapping, Cr... |
OMIM:617788 |
| Infantile Convulsions And Choreoathetosis |
|
Chorea, Dystonia, Athetosis, Choreoathetosis, Normal interictal EEG |
ORPHA:31709 |
| Cri-Du-Chat Syndrome |
|
Low-set ears, Optic atrophy, Hearing impairment, Premature graying of hair, Stenosis of the exter... |
OMIM:123450 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
| Oromandibular Dystonia |
|
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Weight loss, Lin... |
ORPHA:93958 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Blepharospasm, Optic atrophy, Spasticity, Failure to thrive, Hypotonia, Chorea, Rigidity, Craniof... |
OMIM:617282 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Hypotonia, Limb ataxia, Gait ataxia, Appendicular hypotonia, Dysmetria, Ataxi... |
OMIM:616127 |
| Developmental And Epileptic Encephalopathy 1 |
|
Global brain atrophy, Spastic tetraparesis, EEG with burst suppression, Hypsarrhythmia, Hypertoni... |
OMIM:308350 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal circulating tryptophan concentration, Motor... |
ORPHA:79155 |
| Glut1 Deficiency Syndrome 1 |
|
Spasticity, Paroxysmal dystonia, EEG abnormality, Ataxia, Choreoathetosis |
OMIM:606777 |
| Snijders Blok-Campeau Syndrome |
|
Low-set ears, Broad-based gait, Attention deficit hyperactivity disorder, Unsteady gait, Motor st... |
OMIM:618205 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ... |
OMIM:227010 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Otitis media, Immotile sperm, Absent ... |
OMIM:613807 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hearing impairment, Generalized dystonia, Postural tremor, Impaired vibration sensation in the lo... |
ORPHA:98808 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Low-set ears, Cryptorchidism, Abnormal antihelix morphology, Thyroid agenesis, Hypothyroidism, Th... |
ORPHA:3047 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin... |
ORPHA:648 |
| New-Onset Refractory Status Epilepticus |
|
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Abnormal ... |
ORPHA:363558 |
| Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Sensorineural hearing impairment |
OMIM:264140 |
| Craniometaphyseal Dysplasia |
|
Abnormal cranial nerve morphology, Facial palsy, Conductive hearing impairment, Sensorineural hea... |
ORPHA:1522 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sen... |
OMIM:616192 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Hand tremor, Distal sensory impairment, Sensorineural ... |
ORPHA:101076 |
| Partington Syndrome |
|
Focal dystonia, Lower limb spasticity, Limb dystonia, EEG abnormality |
OMIM:309510 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Postural tremor, Tremor... |
OMIM:607694 |
| Alazami Syndrome |
|
Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere... |
ORPHA:319671 |
| X-Linked Creatine Transporter Deficiency |
|
Hypotonia, Chorea, Self-mutilation, Aganglionic megacolon, Cachexia, Hyperactivity, Hypertonia, A... |
ORPHA:52503 |
| Alternating Hemiplegia Of Childhood 1 |
|
Dystonia, Choreoathetosis |
OMIM:104290 |
| Spinocerebellar Ataxia 28 |
|
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Dystonia, ... |
OMIM:610246 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Low-set ears, Impaired pain sensation, Gait ataxia, Overfriendliness, Motor stereotypy, Brain atr... |
OMIM:616579 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Ataxia, Arm dystonia, Amyotrophic lateral sclerosis, Chorea, Spastic diplegia, Retrocollis, Axial... |
ORPHA:300605 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Generalized dystonia, Paroxysmal dystonia, Jerky head movements, Ataxia, Dystonia, Choreoathetosis |
OMIM:245348 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Spasticity, Cerebellar vermis atrophy, Dysmetria, Limb hypertonia, Ataxia, Multi... |
OMIM:618087 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Ataxia, Dystonia |
OMIM:615889 |
| Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor... |
OMIM:609166 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment... |
OMIM:617796 |
| Rett Syndrome, Congenital Variant |
|
Bruxism, Chorea, Protruding ear, Tongue thrusting, EEG abnormality, Dystonia, Athetosis, Motor st... |
OMIM:613454 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Spasticity, Global brain atrophy, Failure to thrive, Hearing impairment, Cerebral atrophy, Hypoto... |
OMIM:612073 |
| Radio-Tartaglia Syndrome |
|
Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Gait imbalance, T... |
OMIM:619312 |
| 4H Leukodystrophy |
|
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Progressive gait ataxia, Ataxia, Dystonia, ... |
ORPHA:289494 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Tremor, Rigidity, A... |
OMIM:300894 |
| Hereditary Methemoglobinemia |
|
Spasticity, Small for gestational age, Temporal cortical atrophy, Global brain atrophy, Cerebella... |
ORPHA:621 |
| Saethre-Chotzen Syndrome |
|
Low-set ears, Optic atrophy, Blepharospasm, Conductive hearing impairment, Hearing impairment, Pr... |
ORPHA:794 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Spastic ataxia, Ataxia, Dystonia,... |
OMIM:614487 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Axial hypotonia, Tremor |
OMIM:619647 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Spasticity, Cerebellar atrophy, Hypotonia, Limb ataxia, Limb dystonia, Head titubation, Torticoll... |
OMIM:617560 |
| Spinocerebellar Ataxia Type 11 |
|
Dystonia, Dysphagia, Progressive cerebellar ataxia |
ORPHA:98767 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Attention deficit hyperactivity disorder, Motor tics, ... |
OMIM:619725 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Failure to thrive, Hypotonia, Attached earlobe, Aggressive behavior, Frontal cortical atrophy, Hy... |
OMIM:616977 |
| Deafness, Autosomal Dominant 16 |
|
Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
| Myoclonus, Familial, 2 |
|
Dystonia |
OMIM:618364 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Dystonia, Athetosis, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Sensori... |
OMIM:193510 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Cerebral cortical atrophy, Global brain atrophy, Inability to walk, Limb... |
ORPHA:457351 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Optic atrophy, Cerebral cortical atrophy, Hearing impairment, Appendicular spasticity, Hypsarrhyt... |
OMIM:617669 |
| Developmental And Epileptic Encephalopathy 84 |
|
Spasticity, Generalized hypotonia, Large earlobe, EEG with burst suppression, Chorea, Opisthotonu... |
OMIM:618792 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Abnormal amplitude of flash visu... |
ORPHA:168491 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... |
ORPHA:562 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hypertonia, Oroman... |
OMIM:613135 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Spastic paraplegia, Optic atrophy, Neonatal hypotonia, Ataxia, Dystonia, Spastic tetraplegia |
OMIM:245349 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Incomplete partition of the cochlea type II, Sensorineural hearing impairment |
OMIM:617660 |
| Bone Marrow Failure Syndrome 1 |
|
Sensorineural hearing impairment |
OMIM:614675 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Hearing impairment, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment |
OMIM:241520 |
| Spinocerebellar Ataxia Type 3 |
|
Abnormal vestibular function, Dystonia, Progressive cerebellar ataxia |
ORPHA:98757 |
| Ritscher-Schinzel Syndrome 4 |
|
Chorea, Impulsivity, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Macrotia |
OMIM:619435 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Ataxia, Dyst... |
ORPHA:401768 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Oculogyric crisis, Generalized dystonia, Generalized hypotonia, Hypotonia, Postural tremor, Limb ... |
ORPHA:101150 |
| Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment |
OMIM:616042 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hearing impairment, Low-set, posteriorly rotat... |
ORPHA:138 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Dystonia, Hypotonia, Generalized hypotonia |
OMIM:618244 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Optic atrophy, Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Rigidity, Sen... |
OMIM:258450 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Spastic paraplegia, Limb ataxia, Lower limb spasticity, Dystonia, Upper limb spasticity |
OMIM:618418 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Dysmetria, Lower lim... |
OMIM:609195 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Björnstad Syndrome |
|
Sensorineural hearing impairment |
ORPHA:123 |
| Facioscapulohumeral Dystrophy |
|
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment |
ORPHA:269 |
| Dystonia 28 |
|
Arm dystonia, Generalized dystonia, Leg dystonia, Attention deficit hyperactivity disorder, Oroma... |
ORPHA:589618 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Sensorineural hearing impairment |
ORPHA:2668 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Aplasia of the inner ear, Abnormal cranial nerve morphology, Sensorineural he... |
ORPHA:90024 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Episodic ataxia, Paresthesia, Dystonia, Choreoathetosis |
ORPHA:53583 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Athetosis, Dysdiadochokinesis |
OMIM:213600 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
EEG with abnormally slow frequencies, Spasticity, Failure to thrive, Generalized dystonia, Genera... |
ORPHA:70472 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Attention deficit hyperactivity ... |
ORPHA:261197 |
| Isotretinoin-Like Syndrome |
|
Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... |
ORPHA:2306 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyper... |
OMIM:617061 |
| Aicardi-Goutieres Syndrome 4 |
|
Low-set ears, Spasticity, Cerebellar atrophy, Cerebral atrophy, Dystonia |
OMIM:610333 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Cerebral atrophy, Neurodegeneration, Infa... |
ORPHA:309246 |
| Dystonia 12 |
|
Tremor, Dystonia, Dysphagia, Torticollis |
OMIM:128235 |
| Dystonia 16 |
|
Postural tremor, Limb dystonia, Dysphagia, Torticollis |
ORPHA:210571 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Low-set ears, Cerebral atrophy, Appendicular spasticity, Optic disc pallor, Dystonia, Axial hypot... |
OMIM:617762 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... |
OMIM:618131 |
| Transketolase Deficiency |
|
Self-injurious behavior, Elevated circulating ribitol concentration, Hearing impairment, Attentio... |
ORPHA:488618 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Dysphagia, Testicular atrophy |
OMIM:300322 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination, EEG with generalized s... |
ORPHA:397612 |
| Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... |
OMIM:609152 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Recurrent otitis media, Immotile sperm, Absent inner dynein arms, Absent outer ... |
OMIM:614874 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Gait ataxia, Self-mutilation, Hyperactivity, Motor stereotypy, Macrotia |
OMIM:300486 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Hypotonia, Gait ataxia, Dysmetria, Rigidity, Dystonia |
OMIM:203740 |
| Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea |
OMIM:614602 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated circulating thyroid-s... |
ORPHA:226313 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:99819 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... |
OMIM:301035 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Dystonia, Lower limb hyp... |
OMIM:614898 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Generalized dystonia, Hypotonia, Rigidity, Ataxia, Dystonia |
OMIM:618239 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Macrotia, Bulimia, Bruxism, Hypotonia, Stereotypical body rocking, Recurrent h... |
OMIM:300912 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Low-set ears, Self-injurious behavior, Cerebral atrophy, Bruxism, Hair-pulling, Aggressive behavi... |
OMIM:616393 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... |
ORPHA:449291 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Spastic tetraparesis, Abnormality of peripheral ne... |
ORPHA:35069 |
| Distal Renal Tubular Acidosis |
|
Enlarged vestibular aqueduct, Polydipsia, Sensorineural hearing impairment |
ORPHA:18 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Spasticity, Decerebrate rigidity, Generalized hypotonia, Decreased nerve conductio... |
ORPHA:309256 |
| Rett Syndrome |
|
Cerebral cortical atrophy, Spasticity, Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexi... |
OMIM:312750 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Axonal d... |
OMIM:208920 |
| Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Ataxia, Motor stereotypy |
ORPHA:2479 |
| Primary Dystonia, Dyt4 Type |
|
Blepharospasm, Upper limb postural tremor, Generalized dystonia, Laryngeal dystonia, Eunuchoid ha... |
ORPHA:98805 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Dystonia, Generalized hypotonia |
OMIM:618224 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:424 |
| Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Aggressive beha... |
OMIM:607454 |
| Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Hearing impairment, Vertigo, Anorexia, Abnormal cranial nerve morpho... |
ORPHA:297 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... |
OMIM:243150 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Failure to thrive, Hypotonia, Anorexia, Dystonia, Choreoathetosis |
ORPHA:79312 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Gastroesophageal reflux, Motor stereotypy |
ORPHA:85277 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Low-set ears, Spasticity, Decreased motor nerve conduction velocity, Hearing impairment, Cerebell... |
OMIM:618186 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Congenital sensorineural hearing imp... |
ORPHA:432 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Cerebral atrophy, Neurodegener... |
OMIM:610217 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Atresia of the external auditory canal, Decreased response to growth hormone ... |
OMIM:146510 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Attention deficit hyperactivity dis... |
OMIM:300352 |
| Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Ataxia, Delayed so... |
OMIM:277460 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Cerebral atrophy, Pseudobulbar paralysis, Dysmetria, Lower limb spasticity, Ataxia, Dystonia, Int... |
OMIM:616140 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Hemidystonia, Neonatal hypotonia, Recurrent otitis media, Obesity, Recurrent hand flapping, Tremo... |
OMIM:619680 |
| D-Glyceric Aciduria |
|
Cerebral cortical atrophy, Spasticity, Neonatal hypotonia, Failure to thrive, Hypotonia, Appendic... |
OMIM:220120 |
| Allan-Herndon-Dudley Syndrome |
|
Spasticity, Small for gestational age, Decreased body mass index, Neonatal hypotonia, Failure to ... |
ORPHA:59 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Reduced sperm motility |
OMIM:602271 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Hypertonia |
OMIM:618824 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Sensorineural hearing impairment |
OMIM:221400 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Chronic constipation, Aggressive behavior, Attention deficit hyperact... |
OMIM:618825 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Low-set ears, Generalized hypotonia, Decreased body weight, Sensorineural hearing impairment, Hyp... |
OMIM:607906 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Spasticity, Decerebrate rigidity, Generalized hypotonia, Decreased nerve conductio... |
ORPHA:309263 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity |
OMIM:618914 |
| Autoinflammation With Infantile Enterocolitis |
|
Secretory diarrhea, Villous atrophy, Skin rash, Feeding difficulties in infancy, Enterocolitis, E... |
OMIM:616050 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gai... |
OMIM:614381 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Limb hypertonia, Dystonia, Axial hypotonia |
ORPHA:324588 |
| Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Hypotonia, Spasticity, Generalized hypotonia |
OMIM:610329 |
| Kleefstra Syndrome 1 |
|
Hearing impairment, Aggressive behavior, Compulsive behaviors, Motor stereotypy, Abnormal pinna m... |
OMIM:610253 |
| Mucolipidosis Iv |
|
Optic atrophy, Cerebellar atrophy, Generalized hypotonia, Hypotonia, Dystonia, Spastic tetraplegia |
OMIM:252650 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hypotonia, At... |
OMIM:616034 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Difficulty walking, Abnormality of peripheral nerve conduction... |
ORPHA:90321 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy, Cerebellar atrophy, EEG abnormality, Dystonia, Dysphagia, Progressive cerebellar a... |
OMIM:618868 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Rigidity, Scissor gait, Lower limb spasticity, Dystonia |
OMIM:260300 |
| Chromosome 5P13 Duplication Syndrome |
|
Low-set ears, Self-injurious behavior, Posteriorly rotated ears, Compulsive behaviors, Motor ster... |
OMIM:613174 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low-set ears, Global brain atrophy, Cerebellar atrophy, Hearing impairment, EEG with generalized ... |
ORPHA:369837 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment |
OMIM:193700 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Hypotonia |
ORPHA:139406 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Aggressive behavi... |
OMIM:618321 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis |
OMIM:614878 |
| Jaberi-Elahi Syndrome |
|
Low-set ears, Optic atrophy, Failure to thrive, Cerebellar vermis atrophy, Hypotonia, Gait ataxia... |
OMIM:617988 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... |
OMIM:616433 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... |
ORPHA:3337 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Gait ataxia, Dysmetria, Infantile muscular hypotonia, Truncal ataxia, Dystonia, Intention tremor,... |
ORPHA:453521 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Gastroesophageal reflux, Exaggerated median tongue furrow, Aggressive be... |
ORPHA:313892 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Spasticity, Generalized hypotonia, Chorea, EEG abnormality, Dystonia |
OMIM:613970 |
| Posttransplant Acute Limbic Encephalitis |
|
EEG with abnormally slow frequencies, Abnormal autonomic nervous system physiology, Ataxia, Dysto... |
ORPHA:163921 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Tremor, Rigidity, Limb hypertonia, Dystonia, Small for gestational age, Axial ... |
ORPHA:70594 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Conductive hearing impairment, Impaired pain sensation, Attention defici... |
ORPHA:819 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity, Opisthotonus... |
OMIM:607483 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Hypotonia, Chorea, Limb hypertonia, Dystonia, Choreoathetosis, Axial hypotonia |
OMIM:606703 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Cerebral atrophy, Generalized hypotonia, Episodic ataxia, Hypotonia, T... |
OMIM:312170 |
| Spastic Paraplegia 47, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Neonatal hypotonia, Hypertonia, Dystonia, Overweight |
OMIM:614066 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Sensorineural hearing ... |
ORPHA:998 |
| Rett Syndrome |
|
Failure to thrive, Abnormal muscle tone, Bruxism, Stereotypical hand wringing, EEG abnormality, A... |
ORPHA:778 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Hypotonia, Tremor, Dystonia, Dysphagia, Choreoathe... |
OMIM:617664 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Generalized hypotonia, Hypotonia, Tremor, Rigidity, Severe muscular hypotonia, Limb hypertonia, D... |
OMIM:233910 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, High palate, Motor stereotypy, Recurrent pneumonia |
OMIM:615637 |
| Multiple System Atrophy, Cerebellar Type |
|
Neuromuscular dysphagia, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ata... |
ORPHA:227510 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Failure to thrive, Hypotonia, Dysmetria, Head titubation, Ataxia, Truncal ataxia, Dystonia |
OMIM:250620 |
| Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level, Sensorineural hearing impairment |
OMIM:619406 |
| Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Sensorineural hearing impairment |
OMIM:267300 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... |
OMIM:614700 |
| Shigellosis |
|
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Acut... |
ORPHA:810 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypotonia, Dystonia, Spastic tetraplegia, Hypertonia |
OMIM:619301 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormality of the outer ear, Sensorineural hearing impairment, Attention deficit hyperactivity d... |
ORPHA:435638 |
| Infantile Dystonia-Parkinsonism |
|
Oculogyric crisis, Chorea, Limb hypertonia, Hypertonia, Dystonia, Axial hypotonia |
ORPHA:238455 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Small for gestational age, Cerebral atrophy, Hypotonia, Limb dystonia, Sensorineural ... |
OMIM:619847 |
| Ataxia-Telangiectasia-Like Disorder |
|
Dysdiadochokinesis, Cerebellar atrophy, Generalized hypotonia, Chorea, Gait ataxia, Dysmetria, At... |
ORPHA:251347 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Dysdiadochokinesis, Cerebellar atrophy, Hypotonia, Chorea, Gait ataxia, Dysmetria, Lower limb spa... |
OMIM:604391 |
| Gapo Syndrome |
|
Low-set ears, Optic atrophy, Hearing impairment, Hypogonadism, Dysmenorrhea, Amenorrhea, Oligozoo... |
ORPHA:2067 |
| Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism, Sensorineural hearing impairment |
ORPHA:1000 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Spasticity, Neonatal hypotonia, Ataxia, Truncal ataxia, Dystonia |
OMIM:252011 |
| Birk-Landau-Perez Syndrome |
|
Optic atrophy, Progressive sensorineural hearing impairment, Failure to thrive in infancy, Limb a... |
OMIM:617595 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Protruding ear, Motor stereotypy, Abnormal antihelix morphology |
ORPHA:261144 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Low-set ears, Self-mutilation, Sensorineural hearing impairment, Stereotypical hand wringing, Agg... |
OMIM:212066 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cerebral cortical atrophy, Pseudobulbar paralysis, Lower limb spasticity, Dystonia, Impaired vibr... |
ORPHA:101006 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... |
OMIM:300200 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Oral-pharyngeal dysphagia, Decreased response to growth hormon... |
ORPHA:273 |
| Multiple System Atrophy |
|
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... |
ORPHA:102 |
| Harel-Yoon Syndrome |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Hypotonia, Ataxia, Dystonia, Axial hypotonia |
OMIM:617183 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Cerebral cortical atrophy, Spastic tetraparesis, Hypotonia, EEG abnormality, Dystonia, Axial hypo... |
OMIM:617668 |
| Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... |
OMIM:209920 |
| Alg3-Cdg |
|
Hearing impairment, Spastic tetraparesis, Hypotonia, Brain atrophy, Hypertonia, Dystonia, Subcort... |
ORPHA:79321 |
| White-Sutton Syndrome |
|
Low-set ears, Abnormality of the outer ear, Self-injurious behavior, Cerebral atrophy, Overfriend... |
OMIM:616364 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Cerebral cortical atrophy, EEG with parietal epileptiform discharges, Continuous spike and waves ... |
OMIM:619428 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... |
ORPHA:436159 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
| Heimler Syndrome 1 |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment |
OMIM:234580 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Spasticity, Global brain atrophy, Hypotonia, Obesity, Agitation, Tremor, Decreased body weight, S... |
OMIM:619229 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypotonia, Dystonia, Spastic tetraplegia, Hypertonia |
OMIM:619302 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Oculogyric crisis, Failure to thrive, Hypotonia, Tremor, Limb hypertonia, EEG abnormality, Dyston... |
ORPHA:35708 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Low-set ears, Hypospadias, Head-banging, Focal polymicrogyria, Frequent temper tantrums, Cryptorc... |
OMIM:619103 |
| East Syndrome |
|
Cerebellar atrophy, Polydipsia, Difficulty walking, Inability to walk, Action tremor, Sensorineur... |
ORPHA:199343 |
| Perrault Syndrome 2 |
|
Sensorineural hearing impairment |
OMIM:614926 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Vestibular areflexia, Sensorineural hearing impairment |
OMIM:609006 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Pseudobulbar paralysis, Infantile axial hypotonia, Dysmetria, Diffuse cerebral atrophy, Lower lim... |
ORPHA:438114 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Head titubation, Ataxia, Dystonia, P... |
ORPHA:527497 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Low-set ears, Neonatal hypotonia, Failure to thrive in infancy, Chorea, Protruding ear, Dystonia,... |
OMIM:618829 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Low-set ears, Spasticity, Cerebellar atrophy, Cerebral atrophy, Hypotonia, Dystonia |
OMIM:619286 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Dystonia, Hypotonia, Spasticity, Dysmetria |
OMIM:251950 |
| Lead Poisoning |
|
Decreased male libido, Reduced sperm motility, Abnormality of the menstrual cycle, Decreased circ... |
ORPHA:330015 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Head tremor, Chorea, Gait ataxia, ... |
OMIM:606002 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... |
OMIM:301074 |
| Hijazi-Reis Syndrome |
|
Gastroesophageal reflux, Motor stereotypy, Chronic constipation, Gastrostomy tube feeding in infancy |
OMIM:301094 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Oculogyric crisis, Spastic tetraparesis, Generalized hypotonia, Limb dystonia, Tremor, Hypertonia... |
ORPHA:352649 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Low-set ears, Inability to walk, Sensorineural hearing impairment, Spastic ataxia, Abnormal auton... |
ORPHA:300570 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Goiter, Puberty and gonadal disorders, Increased circulating free T3, Thyrotoxico... |
ORPHA:525731 |
| Isolated Atp Synthase Deficiency |
|
Spastic paraplegia, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Hypotonia, Sens... |
ORPHA:254913 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Hearing impairment, Bruxism, Protruding ear, Aggressiv... |
OMIM:606232 |
| Childhood Disintegrative Disorder |
|
Motor stereotypy, Bowel incontinence |
ORPHA:168782 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Spasticity, Oculogyric crisis, Oral-pharyngeal dysphagia, Dystonia, Moto... |
ORPHA:208447 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Nod... |
ORPHA:1332 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Diffuse cerebral atrophy, Dystonia |
ORPHA:314632 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Generalized dystonia, Limb dystonia, Tremor, Torticollis, Torsion dystonia |
ORPHA:99657 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Limb ataxia, Rigidity, Abnormal aut... |
OMIM:109150 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Hypotonia, Chorea, Recurrent hand flapping, Attention deficit hyperactivity disord... |
OMIM:617600 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Optic atrophy, Abnormality of the outer ear, Cerebral cortical atrophy, ... |
ORPHA:468678 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Somatic sensory dysfuncti... |
ORPHA:909 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Spasticity, Prominent antihelix, Neonatal hypotonia, Failure to thrive, Macrotia, Cerebral atroph... |
OMIM:615802 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Encopresis, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Spasticity, Generalized hypotonia, Hypotonia, Ataxia, Dystonia, Axial hypotonia |
OMIM:619224 |
| Leukodystrophy, Hypomyelinating, 25 |
|
Dystonia, Hypotonia, Gait ataxia |
OMIM:620243 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Ataxia, Compulsive behaviors, Motor stereotypy, Macrotia |
OMIM:615656 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Abnormal temper tantrums, Hypotonia, Hyperactivity, Ataxia, Motor stereotypy |
ORPHA:530983 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Dystonia, Spastic tetraplegia |
OMIM:618646 |
| Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ata... |
ORPHA:98760 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Spotty hypopigmenta... |
ORPHA:401973 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... |
ORPHA:91347 |
| Shukla-Vernon Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity |
OMIM:301029 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Spasticity, Generalized hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder,... |
OMIM:610042 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Tremor, Aggressive behavio... |
OMIM:620494 |
| Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Spasticity, Decerebrate rigidity, Generalized hypotonia, Decreased nerve conductio... |
ORPHA:309271 |
| Baralle-Macken Syndrome |
|
Spasticity, Global brain atrophy, Neonatal hypotonia, Obesity, Dystonia |
OMIM:619255 |
| Dystonia 7, Torsion |
|
Blepharospasm, Hand tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibular dystonia |
OMIM:602124 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Infertility, Immotile sperm, Abnormal axonemal organization of respirator... |
OMIM:613808 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Bruxism, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Dystonia, Agitation |
OMIM:617903 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent otitis media, Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
| Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... |
ORPHA:98933 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Spasticity, Failure to thrive, Hypotonia, Dystonia, Small for gestational age |
OMIM:614702 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Generalized hypotonia, Tremor, Cerebral cortical hemiatrophy, Dystonia, Brain atrophy |
ORPHA:306669 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Dystonia, Obesity, Somatic sensory dysfunction, Ataxia |
ORPHA:459033 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Optic atrophy, Cerebral cortical atrophy, Chorea, Opisthotonus, Dystonia, Restlessness, Dysphagia |
OMIM:277470 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Impaired p... |
ORPHA:101 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Spasticity, Limb hypertonia, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia |
OMIM:615905 |
| Developmental And Epileptic Encephalopathy 86 |
|
Dystonia, Small for gestational age, Generalized hypotonia |
OMIM:618910 |
| Choreoacanthocytosis |
|
Disinhibition, Aggressive behavior, Self-mutilation of tongue and lips due to involuntary movemen... |
OMIM:200150 |
| Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Neonatal hypotonia, Action tremor, Lower limb spasticity, Repetitive compulsive be... |
ORPHA:66634 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Generalized dystonia, Opisthotonus, Attention deficit hyperactivity disorder, Weight ... |
ORPHA:216866 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Low-set ears, Cerebellar atrophy, Cerebral atrophy, Prominent crus of helix, Bruxism, Hypotonia, ... |
OMIM:617804 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Dysmetria, Aggressive behavior, Scissor gait, Attention deficit hyperactivity di... |
OMIM:619121 |
| 5Q14.3 Microdeletion Syndrome |
|
Hypotonia, Frontal cortical atrophy, Motor stereotypy, Optic nerve hypoplasia |
ORPHA:228384 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
| Dystonia 9 |
|
Spastic paraplegia, Episodic ataxia, Paresthesia, Dystonia, Choreoathetosis |
OMIM:601042 |
| Rauch-Steindl Syndrome |
|
Prominent crus of helix, Protruding ear, Attached earlobe, Aggressive behavior, Hyperactivity, Mo... |
OMIM:619695 |
| Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia, Optic atrophy, Abnormal pinna morphology, Hearing impairment |
ORPHA:1252 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Posteriorly rotated ears, Multinodular goiter |
OMIM:620189 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low-set ears, Overfriendliness, Attention deficit hyperactivity disorder, Posteriorly rotated ear... |
OMIM:619293 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Spasticity, Generalized dystonia, Spastic tetraparesis, Opisthotonus, Dystonia, Choreoathetosis, ... |
OMIM:619653 |
| Ataxia With Vitamin E Deficiency |
|
Tremor, Dysmetria, Hypertonia, Ataxia, Dystonia, Dysdiadochokinesis, Abnormality of visual evoked... |
ORPHA:96 |
| Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:606943 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Resting tremor, Rigidity |
OMIM:605909 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Bone spicule pigmentation of... |
OMIM:268315 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Hypotonia, Chorea, Dystonia, Choreoathetosis |
ORPHA:289916 |
| Mogs-Cdg |
|
Optic atrophy, Fair hair, Sensorineural hearing impairment, Absent brainstem auditory responses, ... |
ORPHA:79330 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... |
ORPHA:37042 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Dystonia, Hypotonia, Spasticity, Ataxia |
OMIM:620094 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Neuromuscular dysphagia, Tremor, Rigidity |
ORPHA:240085 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... |
ORPHA:171929 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Axial dystonia, Craniofacial dystonia... |
ORPHA:420492 |
| Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Gastrointestinal hemorrhage, Sclerosing cholangitis, Glomeru... |
ORPHA:2137 |
| Kaya-Barakat-Masson Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Limb dystonia, Spastic t... |
OMIM:619125 |
| Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Hypertonia, Torticollis, Dystonia, Spastic tetraplegia |
OMIM:619071 |
| Cimdag Syndrome |
|
Spasticity, Cerebral atrophy, Hypotonia, Chorea, Pontocerebellar atrophy, Sensorineural hearing i... |
OMIM:619273 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... |
ORPHA:90674 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, A... |
OMIM:614298 |
| Machado-Joseph Disease Type 3 |
|
Abnormal vestibular function, Spasticity, Degeneration of the striatum, Cerebellar atrophy, Abnor... |
ORPHA:276244 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Hearing impairment, Goiter, Facial diplegia, Hypothyroidism, Hyperthyroidism,... |
ORPHA:254892 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Dysphagia, Ataxia, Dystonia, Motor ... |
ORPHA:496641 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Low-set ears, Self-injurious behavior, Head-banging, Recurrent otitis media, Frequent temper tant... |
OMIM:619575 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Conductive hearing impairment, Hearing impairment, Female infertility, R... |
ORPHA:244 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... |
ORPHA:53351 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Cerebellar atrophy, Generalized dystonia, Cerebral atrophy, Hypotonia, Limb dystonia,... |
OMIM:617013 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Motor stereotypy, Constipation, Hyperactivity, Paroxysmal bu... |
ORPHA:228402 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Reduced sperm motility |
OMIM:608647 |
| Kufor-Rakeb Syndrome |
|
Ataxia, Spastic paraplegia, Spasticity, Tremor, Rigidity, Distal sensory impairment, Aggressive b... |
OMIM:606693 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... |
ORPHA:99832 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Recurrent infection of the gastroint... |
ORPHA:911 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| 2Q37 Microdeletion Syndrome |
|
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Conductive hear... |
ORPHA:1001 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Cerebral atrophy, Hypotonia, Sensorineural hearing impairment, Dystonia, Small for gestational age |
OMIM:620167 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Temporal cortical atrophy, Frontal cortical atrophy, Dystonia, Facial palsy, Brain atrophy |
OMIM:167320 |
| Machado-Joseph Disease Type 1 |
|
Abnormal vestibular function, Spasticity, Degeneration of the striatum, Cerebellar atrophy, Progr... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Abnormal vestibular function, Spasticity, Degeneration of the striatum, Cerebellar atrophy, Progr... |
ORPHA:276241 |
| Dystonia 16 |
|
Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Limb dystonia, Dysphagia |
OMIM:612067 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, Abnormal temper tantrums, Aggressive behavior, Ataxia, Unsteady gait, Motor stereotypy |
ORPHA:457279 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Bilateral sensorineural hearing impairment, Congenital hypothyroidism, Thyroid hypoplasia, Macrotia |
ORPHA:521445 |
| Developmental And Epileptic Encephalopathy 29 |
|
Blepharospasm, Spasticity, Failure to thrive, Cerebral atrophy, Chorea, Limb dystonia, Axial hypo... |
OMIM:616339 |
| Filippi Syndrome |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Decreased body weight |
OMIM:272440 |
| Spinocerebellar Ataxia Type 6 |
|
Blepharospasm, Gait ataxia, Choking episodes, Dystonia, Dysphagia, Intention tremor, Progressive ... |
ORPHA:98758 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Failure to thrive, Hypotonia, Recurrent hand flapping, Aggressive behavi... |
OMIM:300986 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Failure to thrive, Hypotonia, Head titubation, Hypsarrhythmia, Truncal ataxia, Dystonia |
ORPHA:88639 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... |
OMIM:218700 |
| Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
EEG with generalized sharp slow waves, Cerebral atrophy, EEG with focal sharp waves, Hypotonia, H... |
ORPHA:79243 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... |
ORPHA:226307 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Cerebral cortical atrophy, Vertigo, Tremor, Rigidity, Neuronal loss in central ner... |
ORPHA:683 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Pill-rolling tremor, Rigidity, Limb hypertonia, Dystonia |
OMIM:615528 |
| Charge Syndrome |
|
Low-set ears, Cupped ear, Aplasia of the semicircular canal, Self-mutilation, Sensorineural heari... |
OMIM:214800 |
| Huntington Disease-Like 3 |
|
Spasticity, Chorea, Caudate atrophy, Frontal cortical atrophy, Ataxia, Dystonia |
OMIM:604802 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Vertigo, Chorea, Pallidal degeneration, Limb dystonia, Tremor, Rigidity, Severe muscular hypotoni... |
ORPHA:25 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia |
OMIM:224500 |
| Cardiospondylocarpofacial Syndrome |
|
Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi... |
OMIM:157800 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility, Chronic otitis media |
OMIM:619608 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Spastic paraparesis, Hand tremor, Rigidity, Dystonia, Dysphagia |
ORPHA:289560 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Failure to thrive, Low-set, posteriorly rotated ears, Hypotonia, Rigidity, Sensori... |
ORPHA:521426 |
| Gaucher Disease Type 2 |
|
Dystonia, Spasticity, Dysphagia |
ORPHA:77260 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Torticollis, Oromandibular... |
ORPHA:420485 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Increased theta frequency activity in EEG, Paroxysmal dystonia, Attention deficit hyperactivity d... |
ORPHA:98784 |
| Leber Optic Atrophy |
|
Optic atrophy, Postural tremor, Ataxia, Dystonia, Optic neuropathy |
OMIM:535000 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Low-set ears, Elevated circulating luteinizing hormone level, Abnormal earlobe morphology, Abnorm... |
ORPHA:95699 |
| Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, EEG with spike-wave complexes (2.5-3.5 Hz), Je... |
ORPHA:64280 |
| Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Spastic tetraparesis, Generalized hypotonia, Neurodegeneration, Hypotonia, Chor... |
OMIM:272750 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... |
OMIM:106300 |
| Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Decreased body weight, Motor stereotypy, Paroxysma... |
OMIM:618347 |
| Metachromatic Leukodystrophy |
|
Optic atrophy, Generalized hypotonia, Decreased nerve conduction velocity, Hypotonia, Chorea, Ata... |
OMIM:250100 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Cerebral atrophy, Interictal EEG abnormality, Loss of ambulation, Motor stere... |
ORPHA:79264 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, Sensorineural hearing impairment, Hypsarrhythmia, Dysphagia, EEG with generalized ... |
OMIM:616973 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel rigidity, Gait a... |
OMIM:600116 |
| Metachromatic Leukodystrophy |
|
Addictive behavior, Decerebrate rigidity, Hearing impairment, Decreased nerve conduction velocity... |
ORPHA:512 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Hypotonia, Chorea, Opisthotonus, Limb hypertoni... |
OMIM:612389 |
| Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointes... |
ORPHA:73263 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spasticity, Hypotonia, Spastic hemiparesis, Dystonia, Spastic tetraplegia |
OMIM:619616 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:90673 |
| Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Cerebellar atrophy, Obesity, Atrophy/Degeneration affecting the bra... |
OMIM:616267 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Optic atrophy, Oral-pharyngeal dysphagia, Generalized hypotonia, Neurodegeneration, Cerebral atro... |
OMIM:616878 |
| Cyclic Neutropenia |
|
Periodontitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Sinusitis, Abdominal p... |
ORPHA:2686 |
| Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Dystonia, Choreoathetosis, Generalized hypotonia |
OMIM:618416 |
| Kleefstra Syndrome |
|
Self-injurious behavior, Cerebral cortical atrophy, Hearing impairment, Self-mutilation, Aggressi... |
ORPHA:261494 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hypotonia, Protruding ear, Abnormal pinn... |
OMIM:615471 |
| Neuroferritinopathy |
|
Blepharospasm, Arm dystonia, Resting tremor, Chorea, Leg dystonia, Caudate atrophy, Writer's cram... |
ORPHA:157846 |
| Norrie Disease |
|
Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Sen... |
ORPHA:649 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amen... |
ORPHA:91351 |
| Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Hypotonia, Chorea, Tremor, Hyperactivity, Ataxia, Dystonia, Choreoathetosis |
OMIM:615673 |
| Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Colitis, Enterocolitis, Abdominal pain, ... |
OMIM:619802 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis |
OMIM:620133 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Cerebral atrophy, Hypotonia, Gait ataxia, Tremor, Rigidity, Head titubation, Hyperton... |
OMIM:618877 |
| Treacher-Collins Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Cryptorchidism, Hypoplasia of the ... |
ORPHA:861 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Dysphagia, Generalized dystonia, Sensorineural hearing impairment |
ORPHA:79107 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Gastroesophageal reflux, Nausea and vomiting, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:620242 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Decreas... |
OMIM:216400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... |
OMIM:618935 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Spasticity, Dysphagia, Motor stereotypy, Axial hypotonia, Optic nerve hypoplasia |
ORPHA:572013 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Re... |
ORPHA:98813 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Hypotonia, Hypertonia, Dystonia |
OMIM:614654 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Limb hypertonia, Abno... |
OMIM:616875 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Progressive hearing impairment, Dystonia, Ataxia |
OMIM:616113 |
| Liang-Wang Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia, Dystonia, Axial hypotonia |
OMIM:618729 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
| Gm1 Gangliosidosis |
|
Low-set ears, Optic atrophy, Spasticity, Failure to thrive, Generalized dystonia, Generalized hyp... |
ORPHA:354 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Spasticity, Hearing impairment, Hypotonia, Ataxia, Dystonia, Athetosis |
ORPHA:357058 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Polycystic ovaries, Premature thelarche, Papilledema, Nodular goiter |
ORPHA:371428 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constrictive pericarditis, ... |
ORPHA:67 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Low-set ears, Cerebellar atrophy, Cerebral atrophy, Infantile axial hypotonia, Limb dystonia, Tre... |
ORPHA:572798 |
| Pyoderma Gangrenosum |
|
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule |
ORPHA:48104 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypotonia, Dystonia, Ataxia |
OMIM:246900 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Low-set ears, Hair-pulling, Protruding ear, Hypsarrhythmia, Dysphagia, Hyperactivity, Motor stere... |
ORPHA:447997 |
| Partington Syndrome |
|
Lower limb spasticity, Limb dystonia, EEG abnormality |
ORPHA:94083 |
| Otosclerosis 4 |
|
Mixed hearing impairment, Otosclerosis |
OMIM:611571 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Diarrhea, Feeding difficulties, Reye syndrome-like episodes, Nausea, Motor stereotypy, ... |
ORPHA:927 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Progressive hearing impairment, Dystonia, Ataxia |
ORPHA:453533 |
| Aicardi-Goutieres Syndrome 6 |
|
Dystonia, Tremor, Rigidity |
OMIM:615010 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Low-set ears, Breast hypoplasia, Oligozoospermia, Diabetes mellitus, Posteriorly rotated ears, Cl... |
OMIM:614813 |
| Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Spastic tetraparesis, Hypotonia, Dystonia, Axial hypotonia |
OMIM:616299 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia |
OMIM:618999 |
| Cadds |
|
Dystonia, Cerebellar atrophy, Sensorineural hearing impairment |
ORPHA:369942 |
| Cockayne Syndrome B |
|
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebral atrophy, Dec... |
OMIM:133540 |
| Cowden Syndrome |
|
Follicular thyroid carcinoma, Hearing impairment, Goiter, Neoplasm of the thyroid gland, Abnormal... |
ORPHA:201 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Progressive spastic paraplegia, Progressive spasti... |
ORPHA:513436 |
| Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... |
ORPHA:793 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Pain insensitivity, Low-set ears, Broad-based gait, Cerebellar atrophy, Gait ataxia, Overfolded h... |
OMIM:617330 |
| Pseudo-Torch Syndrome 1 |
|
Low-set ears, Spasticity, Failure to thrive, Hypotonia, Dystonia, Axial hypotonia |
OMIM:251290 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... |
OMIM:619381 |
| Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Decreased n... |
ORPHA:580 |
| Tay-Sachs Disease |
|
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Decerebrate rigidity, Hearing impairment... |
ORPHA:845 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Failure to thrive, Neonatal hypotonia, Progressive spastic quadriplegia, Dyst... |
ORPHA:431361 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Cupped ear, Gait ataxia, Thickened helices, Motor stereotypy |
OMIM:610954 |
| Dystonia 26, Myoclonic |
|
Blepharospasm, Dystonia, Torticollis, Laryngeal dystonia |
OMIM:616398 |
| Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter |
OMIM:616858 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Tremor, Rigidity, Abnormal autonomic nervous system physiology, Neuronal loss in ... |
OMIM:168600 |
| Phace Association |
|
Optic atrophy, Congenital hypothyroidism, Lingual thyroid, Horner syndrome, Optic nerve hypoplasia |
OMIM:606519 |
| Duane Retraction Syndrome |
|
Blepharospasm, Hearing impairment, Narrow internal auditory canal, Stenosis of the external audit... |
ORPHA:233 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Generalized hypotonia, Axona... |
OMIM:616811 |
| Hermansky-Pudlak Syndrome 10 |
|
Low-set ears, Cerebral atrophy, Generalized hypotonia, Axial hypotonia, EEG abnormality, Dystonia... |
OMIM:617050 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dystonia, Failure to thrive, Axial hypotonia |
ORPHA:289504 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Leg dystonia, Limb dystonia, Intention tremor, Pallidal degeneration, ... |
ORPHA:157850 |
| Manganese Poisoning |
|
Postural tremor, Inappropriate laughter, Cogwheel rigidity, Aggressive behavior, Hypertonia, Comp... |
ORPHA:306682 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Dystonia, Spasticity, Tremor, Ataxia |
ORPHA:542310 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Postural tremor, Ataxia, Dys... |
ORPHA:64753 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Cerebral atrophy, Sensorineural hearing impairment, Motor stereotypy, Posteriorly r... |
OMIM:301040 |
| Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia |
|
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Spastic gait, Dysto... |
OMIM:620538 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Optic atrophy, Cerebellar atrophy, Progressive spastic paraplegia, Generalized dystonia, Progress... |
ORPHA:329308 |
| Wieacker-Wolff Syndrome |
|
Low-set ears, Spasticity, Cerebral atrophy, Generalized hypotonia, Hypotonia, Dystonia, Facial palsy |
OMIM:314580 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Optic atrophy, Spasticity, Cerebral cortical atrophy, Hypsarrhythmia, Dystonia, Increased cup-to-... |
ORPHA:500144 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Hearing impairment, Abnormal earlobe morphology, Low-set, posteriorly ro... |
ORPHA:96121 |
| Thyroid Ectopia |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... |
ORPHA:95712 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Low-set ears, Cerebral cortical atrophy, Broad-based gait, Hand tremor, Hippocampal atrophy, Shor... |
OMIM:614756 |
| Dystonia 34, Myoclonic |
|
Hand tremor, Head tremor, Torticollis, Writer's cramp, Dystonia |
OMIM:619724 |
| Hermansky-Pudlak Syndrome 1 |
|
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia |
OMIM:203300 |
| Perry Syndrome |
|
Inappropriate behavior, Tremor, Rigidity, Disinhibition, Weight loss, Dystonia |
OMIM:168605 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Hearing impairment |
OMIM:166220 |
| Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Dystonia, Ataxia |
OMIM:230650 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Severe muscular hypotonia, Ataxia, Facial hypotonia, Dystonia, Abnormal pinna morphology, Exagger... |
ORPHA:438216 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Cerebral cortical atrophy, Spastic tetraplegia, Failure to thrive, Hearing impairment, Hypotonia,... |
OMIM:620024 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Low-set ears, Optic atrophy, Self-injurious behavior, Frequent temper tantrums, Sensorineural hea... |
OMIM:619512 |
| Glutaric Acidemia I |
|
Failure to thrive, Generalized hypotonia, Hypotonia, Rigidity, Opisthotonus, Dystonia, Choreoathe... |
OMIM:231670 |
| Young-Onset Parkinson Disease |
|
Spasticity, Restless legs, Tremor, Rigidity, Impulsivity, Abnormal autonomic nervous system physi... |
ORPHA:2828 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Hearing impairment, Neurodegeneration, Hypsarrhythmia, Torticollis, Ataxia, Bil... |
OMIM:619475 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Generalized hypotonia, Hypotonia, Cholesteatoma, Ataxia, Dystonia, Choreoathetosis |
OMIM:610978 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Aga... |
OMIM:162300 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis |
OMIM:301220 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration |
|
Dystonia, Spasticity, Pallidal degeneration, Dysphagia |
OMIM:607236 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Absent uvula, Head titubation, Intestinal atresia, Rectovagi... |
OMIM:619708 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Peritonitis, Pancreatitis, Abdominal pain, Co... |
ORPHA:90038 |
| Autosomal Dominant Spastic Paraplegia Type 9B |
|
Spastic gait, Hypotonia, Postural tremor, Progressive gait ataxia, Atrophy of the spinal cord, Fo... |
ORPHA:447757 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Optic atrophy, Spasticity, Failure to thrive, Chorea, Gait ataxia, Sensorineural hearing ... |
ORPHA:255210 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapula... |
ORPHA:540 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Hypospadias, Optic nerve hypoplasia, Microphallus, Thin ear helix, Low-s... |
ORPHA:468631 |
| Alstrom Syndrome |
|
Progressive sensorineural hearing impairment, Insulin-resistant diabetes mellitus, Decreased resp... |
OMIM:203800 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Absent nipple, Bilateral conductive hearing impairment, Atresia of the external aud... |
OMIM:620186 |
| Corticobasal Syndrome |
|
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb dystonia, Tremor,... |
ORPHA:454887 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Tongue thrusting, Limb hypertonia, Limb tremor, ... |
OMIM:608643 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Low-set ears, Spasticity, Cerebellar atrophy, Hearing impairment, Oral-pharyngeal dysphagia, Gene... |
OMIM:300966 |
| Alzheimer Disease 3 |
|
Cerebral cortical atrophy, Spastic tetraparesis, Optic ataxia, Dystonia, Dysphagia |
OMIM:607822 |
| Chromosome 18P Deletion Syndrome |
|
Hypotonia, Dystonia, Posteriorly rotated ears, Small for gestational age, Macrotia |
OMIM:146390 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis |
OMIM:301108 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... |
ORPHA:2908 |
| Developmental And Epileptic Encephalopathy 66 |
|
Motor stereotypy, Cryptorchidism |
OMIM:618067 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Infantile axial hypotonia, Chorea, ... |
ORPHA:225147 |
| Hereditary Late-Onset Parkinson Disease |
|
Cerebral cortical atrophy, Resting tremor, Rigidity, Orthostatic hypotension due to autonomic dys... |
ORPHA:411602 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Optic atrophy, Spasticity, Phonic tics, Global brain atrophy, Neurodegeneration, O... |
OMIM:234200 |
| Carney Complex, Type 1 |
|
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... |
OMIM:160980 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
EEG with focal sharp waves, Chorea, EEG with spike-wave complexes, Self-mutilation, Repetitive co... |
ORPHA:522077 |
| Bainbridge-Ropers Syndrome |
|
Low-set ears, Self-injurious behavior, Inability to walk, Recurrent hand flapping, Motor stereoty... |
OMIM:615485 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Gait ataxia, Rigidity, Dystonia, Brain atrophy |
ORPHA:391411 |
| Developmental And Epileptic Encephalopathy 89 |
|
Low-set ears, Spasticity, Cerebellar atrophy, Cerebral atrophy, EEG with burst suppression, Asymm... |
OMIM:619124 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Optic atrophy, Global brain atrophy, Sensorineural hearing impairment, Hypertonia, Ataxia, Dyston... |
ORPHA:480864 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Oral-pharyngeal dysphagia, Anorexia, Hypotonia, Chorea, Tremor, Rigidity, Aggr... |
ORPHA:2131 |
| Legius Syndrome |
|
Hearing impairment, Hypotonia, Vestibular schwannoma, Attention deficit hyperactivity disorder, H... |
ORPHA:137605 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hearing impairment, Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchi... |
ORPHA:1772 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Reduced sperm motility |
OMIM:615434 |
| Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,... |
ORPHA:798 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Hypotonia, Tremor, Ataxia, Dystonia, Choreoathetosis |
ORPHA:765 |
| Slc39A8-Cdg |
|
Low-set ears, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Failure to thriv... |
ORPHA:468699 |
| Choreoacanthocytosis |
|
Resting tremor, Limb dystonia, Hair-pulling, Frontal cortical atrophy, Weight loss, Lingual dysto... |
ORPHA:2388 |
| Developmental And Epileptic Encephalopathy 38 |
|
Hypsarrhythmia, Limb hypertonia, Ataxia, Dystonia, Axial hypotonia |
OMIM:617020 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia |
OMIM:250850 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Spasticity, Failure to thrive, Cerebral atrophy, Spastic tetraparesis, Spastic dip... |
OMIM:619487 |
| Early Infantile Epileptic Encephalopathy |
|
Self-injurious behavior, Spasticity, Cerebellar atrophy, Failure to thrive, Episodic ataxia, EEG ... |
ORPHA:1934 |
| Hengel-Maroofian-Schols Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Hypotonia, Dystonia |
OMIM:619641 |
| Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis |
ORPHA:555905 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:529965 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Adrenal hypoplasia, Thyroid hypoplasia, Abnorm... |
ORPHA:2166 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Cerebral cortical atrophy, Spasticity, Resting tremor, Limb dystonia, Rigidity, Abnormal autonomi... |
OMIM:616840 |
| Developmental And Epileptic Encephalopathy 51 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Hypotonia, Corpus callosum atro... |
OMIM:617339 |
| Leigh Syndrome |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Chorea, Sensorineural hearing i... |
ORPHA:506 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Recurrent otitis media, Stereotypical body rocking, Gait ataxia, Abnormal Eusta... |
ORPHA:513456 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Cerebral atrophy, EEG with burst suppression, Hypotonia, Hypsarrhythmia, Dystonia |
ORPHA:439218 |
| Niemann-Pick Disease, Type C1 |
|
Spasticity, Generalized hypotonia, Hypotonia, Gait ataxia, Neuronal loss in central nervous syste... |
OMIM:257220 |
| Classic Galactosemia |
|
Postural tremor, Action tremor, Attention deficit hyperactivity disorder, Ataxia, Dystonia |
ORPHA:79239 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... |
ORPHA:309031 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... |
OMIM:613266 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting |
OMIM:201475 |
| Galloway-Mowat Syndrome 1 |
|
Low-set ears, Optic atrophy, Spasticity, Small for gestational age, Cerebellar atrophy, Cerebral ... |
OMIM:251300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypopigmentation of the skin, EEG with parietal focal spikes, Recurrent otitis media, EEG with ce... |
OMIM:301066 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
| Bloom Syndrome |
|
Azoospermia, Otitis media, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, M... |
ORPHA:125 |
| Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Protruding ear, Attention deficit hyperactivity disorder, M... |
OMIM:301030 |
| Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... |
ORPHA:707 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Cerebral atrophy, Generalized hypotonia, Hypotonia, Tremor, Sensorineural hear... |
OMIM:617248 |
| Aceruloplasminemia |
|
Blepharospasm, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Craniofacial dystonia, Tortico... |
ORPHA:48818 |
| Floating-Harbor Syndrome |
|
Low-set ears, Abnormal temper tantrums, Broad-based gait, Conductive hearing impairment, Impulsiv... |
ORPHA:2044 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Labial hypoplasia, ... |
OMIM:620073 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor... |
OMIM:612953 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
| Wiedemann-Steiner Syndrome |
|
Low-set ears, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy |
ORPHA:319182 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Neuromuscular dysphagia, Progressive extrapyramidal muscular rigidity, Axial dysto... |
ORPHA:240071 |
| Nmda Receptor Encephalitis |
|
Oculogyric crisis, Orthostatic tachycardia, Chorea, EEG with temporal sharp slow waves, Rigidity,... |
ORPHA:217253 |
| Niemann-Pick Disease Type C |
|
Hearing impairment, Cerebral atrophy, Cerebellar vermis atrophy, Hypotonia, Chorea, Limb dystonia... |
ORPHA:646 |
| Cocaine Intoxication |
|
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Intestinal pe... |
ORPHA:90068 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Self-injurious behavior, Broad-based gait, Fixated interests, Hair-pulling, P... |
OMIM:620330 |
| Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of... |
ORPHA:733 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neuromuscular dysphagia, Progressive spastic paraplegia, Paroxysmal dystonia, Scissor gait, Lower... |
ORPHA:466722 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Low-set ears, Overfolded helix, Motor stereotypy, Difficulty walking |
OMIM:618653 |
| Parkinsonian-Pyramidal Syndrome |
|
Spasticity, Rigidity, Abnormal autonomic nervous system physiology, Dystonia, Dysphagia, Intentio... |
ORPHA:171695 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Abdominal distention, Eczematoid dermatitis, Vomiting, Mala... |
ORPHA:3260 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Gait ataxia, Tremor, Self-mutilation, Aggressive behavior, Attention deficit h... |
ORPHA:476126 |
| Myotonic Dystrophy 2 |
|
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... |
OMIM:602668 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Spastic paraplegia, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Generalized dys... |
ORPHA:171629 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... |
ORPHA:47159 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... |
OMIM:617718 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Chor... |
OMIM:612716 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Inappropriate behavior, Extrapyramidal muscular rigidity, Tremor, Rigidity, Focal ... |
ORPHA:99750 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Cryptorchidism, Protruding ear, Abnormality of neuronal migration, Attention deficit... |
ORPHA:464311 |
| Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Ovarian neoplasm |
ORPHA:276399 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Decreased motor nerve conduction velocity, Paucity of anterior horn motor ne... |
ORPHA:79139 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Low-set ears, Optic atrophy, Cupped ear, Hearing impairment, Cerebral atrophy, Protruding ear, Mo... |
OMIM:309590 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Hypotonia, Chorea, Tremor, EEG abnor... |
OMIM:615356 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... |
ORPHA:85450 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Low-set ears, Spasticity, Hearing impairment, Recurrent otitis media, Ataxia, Spastic tetraplegia... |
OMIM:619950 |
| Sepsis In Premature Infants |
|
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... |
ORPHA:90051 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Paraganglioma of head and neck, Elevated circulating parathyroid horm... |
ORPHA:653 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Dystonia, Spasticity, Ataxia |
OMIM:617341 |
| Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... |
ORPHA:29207 |
| Propionic Acidemia |
|
Failure to thrive, Cerebral atrophy, Limb hypertonia, Dystonia, Axial hypotonia |
OMIM:606054 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Cerebellar atrophy, Neonatal hypotonia, Cerebral atrophy, Hypotonia, Tremor, Opisthot... |
OMIM:616271 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Hypotonia, Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:618354 |
| Kinsship Syndrome |
|
Low-set ears, Bruxism, Motor stereotypy, Brain atrophy |
OMIM:619297 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Protruding ear, Gait disturbance, Hyperactivity, Optic disc pallor, Mo... |
ORPHA:464306 |
| Coach Syndrome 1 |
|
Spasticity, Generalized hypotonia, Hypotonia, Ataxia, Optic disc pallor, Dystonia |
OMIM:216360 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cerebral cortical atrophy, Dystonia, Spastic tetraparesis |
ORPHA:404451 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Low-set, posteriorly rotated ears, Optic atrophy, Dystonia, Neonatal hypotonia |
ORPHA:457193 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Acute colitis, Gastrointestinal infarctions, N... |
ORPHA:544482 |
| Fucosidosis |
|
Low-set ears, Failure to thrive, Hearing impairment, Cerebral atrophy, Hypotonia, Spastic gait, D... |
OMIM:230000 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Dystonia, Resting tremor, Postural tremor, Rigidity |
OMIM:619911 |
| 17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Recurrent otitis media, Progressive conductive hearing impairment, Aggressive behav... |
ORPHA:529962 |
| Phace Syndrome |
|
Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid |
ORPHA:42775 |
| Gabriele-De Vries Syndrome |
|
Low-set ears, Hypotonia, Tremor, Simple ear, Attention deficit hyperactivity disorder, Facial hyp... |
OMIM:617557 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Generalized dystonia, Spastic tetraparesis, Spastic ataxia, Dystonia, Dysphagia |
OMIM:620358 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Small for gestational age, Cerebellar atrophy, Cerebral atrophy, Failure to thrive in infancy, Hy... |
OMIM:618891 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hypotonia, Dystonia, Optic disc pallor, Ataxia |
OMIM:619167 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous cand... |
ORPHA:391487 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Adrenal hypoplasia, Hearing impairment |
OMIM:308050 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythrod... |
OMIM:615895 |
| Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Dystonia |
OMIM:105300 |
| Tetrasomy 9P |
|
Inappropriate behavior, Abnormal earlobe morphology, Polymicrogyria, Glue ear, Cryptorchidism, Ab... |
ORPHA:3310 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behavior, Otitis me... |
ORPHA:353281 |
| Triosephosphate Isomerase Deficiency |
|
Spasticity, Failure to thrive, Cerebral atrophy, Generalized hypotonia, Hypotonia, Tremor, Optic ... |
OMIM:615512 |
| Thymoma |
|
Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Neoplasm of the gastroint... |
ORPHA:99867 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... |
ORPHA:3243 |
| Niemann-Pick Disease, Type C2 |
|
Spasticity, Hypotonia, Motor stereotypy, Ataxia, Dystonia, Dysphagia |
OMIM:607625 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Anoperineal fistula, Pancolitis, Eosinophilic infiltration of the esophagus, Perianal abscess, Bl... |
OMIM:618213 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Cerebral cortical atrophy, Generalized hypotonia, Hypotonia, Spastic ataxia, Dystonia |
OMIM:277410 |
| Cystinosis |
|
Type I diabetes mellitus, Polydipsia, Hypothyroidism, Delayed puberty, Nephrogenic diabetes insip... |
ORPHA:213 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Low-set ears, Failure to thrive, Hypotonia, Ataxia, Optic disc pallor, Dystonia, Small earlobe |
OMIM:620083 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Chorea, Impaired oral bol... |
ORPHA:404454 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Enterocolitis, Pancreatitis, ... |
ORPHA:79259 |
| Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopic thyroid |
ORPHA:3206 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Neonatal hypotonia, Self-mutilation, Decreased body weight, Attention de... |
OMIM:619005 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Cerebral atrophy, Sensorineural hearing impairment, Aggressive behavior, Infan... |
ORPHA:17 |
| Arboleda-Tham Syndrome |
|
Low-set ears, Small earlobe, Optic atrophy, Prominent antihelix, Recurrent otitis media, Underdev... |
OMIM:616268 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Optic nerve compress... |
ORPHA:79078 |
| Developmental And Epileptic Encephalopathy 100 |
|
Cerebral atrophy, Hypotonia, Chorea, Gait ataxia, Appendicular hypotonia, EEG with photoparoxysma... |
OMIM:619777 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
EEG with burst suppression, Hypotonia, Agitation, Impulsivity, Hypsarrhythmia, Hyperactivity, Hyp... |
OMIM:620423 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hearing impairment, Abnormal optic disc morphology, Facial palsy, Motor stereotypy, Optic nerve h... |
ORPHA:508498 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Optic atrophy, Hypospadias, Conductive hearing impairment, Annular pancr... |
ORPHA:1606 |
| Mcleod Syndrome |
|
Compulsive behaviors, Dystonia, Chorea, Impaired vibration sensation at ankles |
OMIM:300842 |
| Coffin-Siris Syndrome 12 |
|
Low-set ears, Prominent antihelix, Hippocampal atrophy, Large earlobe, Sensorineural hearing impa... |
OMIM:619325 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
| Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Hypsarrhythmia, Motor stereotypy, EEG with generalized slow activity |
OMIM:300672 |
| Pilarowski-Bjornsson Syndrome |
|
Hypotonia, Motor stereotypy |
OMIM:617682 |
| Helsmoortel-Van Der Aa Syndrome |
|
Low-set ears, Cupped ear, Bruxism, Polyphagia, Posteriorly rotated ears, Attention deficit hypera... |
OMIM:615873 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Syndromic Diarrhea |
|
Intractable diarrhea, Villous atrophy, Hepatoblastoma, Gastritis, Dependency on intravenous nutri... |
ORPHA:84064 |
| Woodhouse-Sakati Syndrome |
|
Hearing impairment, Sensorineural hearing impairment, Protruding ear, Dystonia, Choreoathetosis |
OMIM:241080 |
| Joubert Syndrome 6 |
|
Hypotonia, Motor stereotypy, Ataxia |
OMIM:610688 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Hypsarrhythmia, Dystonia |
OMIM:618397 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatitis, Recurrent aphthous stomatitis, Gastritis, Neoplasm of the tongue, Glomerulonephritis, ... |
ORPHA:3261 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
| Primary Sclerosing Cholangitis |
|
Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Chronic hepatic failure, Pancreatitis,... |
ORPHA:171 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... |
ORPHA:562639 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Failure to thrive, Generalized hypotonia, Anorexia, Hypotonia, Recurren... |
ORPHA:3008 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Low-set, posteriorly rotated ears, Protruding ear, Hyponatremia, Hypokal... |
ORPHA:534 |
| Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Frontotemporal cerebral atrophy, Tremor, Rigidity, Focal dystonia, Generalized cerebr... |
ORPHA:199351 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Motor stereotypy, Hypsarrhythmia, EEG abnormality, Overfolded helix, Posteriorly rotated ears |
OMIM:301044 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Neonatal hypotonia, Generalized hypotonia, Hypotonia, Tremor, Ataxia, Dystonia, Op... |
OMIM:610505 |
| Parkinson Disease 1, Autosomal Dominant |
|
Global brain atrophy, Resting tremor, Rigidity, Dystonia, Dysphagia |
OMIM:168601 |
| Arthrogryposis Multiplex Congenita 5 |
|
Prominent antihelix, Hand tremor, Generalized hypotonia, Hypertonia, Optic disc pallor, Dystonia,... |
OMIM:618947 |
| Aicardi-Goutieres Syndrome 1 |
|
Spasticity, Cerebral atrophy, Self-mutilation, Dystonia, Axial hypotonia |
OMIM:225750 |
| Wiskott-Aldrich Syndrome |
|
Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... |
ORPHA:906 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Spastic paraparesis, Tremor, Rigidity |
OMIM:613280 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypotonia, Dystonia |
OMIM:614105 |
| Primrose Syndrome |
|
Self-injurious behavior, Hearing impairment, Neurodegeneration, Aggressive behavior, Attention de... |
OMIM:259050 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Secondary growth hormone deficiency, Auricular tag, Atresia of the external a... |
ORPHA:672 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Ex... |
ORPHA:177907 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... |
OMIM:278850 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Neonatal hypotonia, Failure to thrive, Spastic tetraparesis, Hypotonia, Dystonia, Axial hypotonia |
OMIM:614924 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Hepatocellular carc... |
OMIM:232220 |
| Wolf-Hirschhorn Syndrome |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Sensorineural hearing imp... |
OMIM:194190 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Spasticity, Spastic tetraparesis, Hypotonia, Decreased body weight, Limb hypertonia, Hypsarrhythm... |
OMIM:620371 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia |
OMIM:300952 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Diarrhea, Recurrent pneumonia, Eczematoid dermatitis, Recurr... |
OMIM:301000 |
| Lipoid Proteinosis |
|
Dystonia, Dysphagia |
ORPHA:530 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Atopic dermatitis, Diarrhea, Parotitis, Colitis, Arthritis, Conjunctivitis, Abdominal pain, Epidi... |
OMIM:620376 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav... |
ORPHA:353277 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Self-injurious behavior, Sensorineural hearing impairment, Protruding ear, Simple e... |
OMIM:612474 |
| Mercury Poisoning |
|
Dystonia, Tremor, Anorexia |
ORPHA:330021 |
| Fumarase Deficiency |
|
Hepatic failure, High palate, Necrotizing enterocolitis |
OMIM:606812 |
| Supranuclear Palsy, Progressive, 1 |
|
Cerebral atrophy, Retrocollis, Limb dystonia, Axial dystonia, Tremor, Rigidity, Neuronal loss in ... |
OMIM:601104 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Feeding difficulties, Villous atrophy, P... |
OMIM:619573 |
| Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... |
OMIM:232240 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Hypospadias, Hematocolpos, Imperforate hymen, Cryptorchidism, Posteriorly rotated e... |
OMIM:619522 |
| Holoprosencephaly |
|
Optic atrophy, Spasticity, Failure to thrive in infancy, Hypotonia, Chorea, Abnormal antihelix mo... |
ORPHA:2162 |
| Ataxia-Telangiectasia |
|
Dysdiadochokinesis, Failure to thrive, Intention tremor, Tremor, Ataxia, Dystonia, Choreoathetosi... |
OMIM:208900 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Iridocyclitis, Arthritis, Anorexia, Abnormal salivary gland ... |
OMIM:181000 |
| Aicardi-Goutières Syndrome |
|
Low-set ears, Spasticity, Spastic paraparesis, Degeneration of the striatum, Extrapyramidal muscu... |
ORPHA:51 |
| Parkinson Disease 20, Early-Onset |
|
Cerebral cortical atrophy, Tremor, Rigidity, Dystonia, Dysphagia |
OMIM:615530 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Optic atrophy, Spasticity, Tremor, Ataxia, Dystonia |
OMIM:612199 |
| Ogden Syndrome |
|
Low-set ears, Cerebral atrophy, Recurrent otitis media, Hyperbilirubinemia, Protruding ear, Dysph... |
OMIM:300855 |
| Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... |
OMIM:617137 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Low-set ears, Spasticity, Failure to thrive, Hypotonia, Tremor, Dysmetria, Ataxia, Truncal ataxia... |
OMIM:220111 |
| Gabriele-De Vries Syndrome |
|
Low-set ears, Oral-pharyngeal dysphagia, Hypotonia, Tremor, Attention deficit hyperactivity disor... |
ORPHA:506358 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Encopresis, Hiatus hernia, Constipatio... |
OMIM:616682 |
| Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Cerebral atrophy, Spastic tetraparesis, Generalized hypotonia, Hypotonia, Low... |
OMIM:615846 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized hypotonia, Infantile axial hypotonia, Hypotonia, Opisthotonus, Hypertonia, Motor ster... |
ORPHA:508533 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Spastic paraparesis, Action tremor, Rigidity, Hypertonia, Truncal ataxia, Dystonia, Dysdiadochoki... |
ORPHA:309854 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Small pituitary gland, Decreased response to growth hormone stimulation test, Recur... |
OMIM:619503 |
| Woodhouse-Sakati Syndrome |
|
Bilateral sensorineural hearing impairment, Dystonia, Choreoathetosis, Protruding ear |
ORPHA:3464 |
| Orofaciodigital Syndrome Type 1 |
|
Hearing impairment, Tremor, Ataxia, Dystonia, Chronic otitis media |
ORPHA:2750 |
| Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... |
ORPHA:64 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Pain insensitivity, Failure to thrive, Painless fractures due to injury, Hypotonia, Distal sensor... |
OMIM:256810 |
| Wilson Disease |
|
Hand tremor, Decreased nerve conduction velocity, Limb dystonia, Tremor, Rigidity, Hypoesthesia, ... |
OMIM:277900 |
| Beta-Ureidopropionase Deficiency |
|
Hypotonia, Dystonia, Hypsarrhythmia, Neonatal hypotonia |
OMIM:613161 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99228 |
| Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99226 |
| Turner Syndrome |
|
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:881 |
| Proteus Syndrome |
|
Low-set ears, Exostosis of the external auditory canal, Narrow internal auditory canal, Macrotia |
ORPHA:744 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... |
OMIM:137920 |
| Idiopathic Camptocormia |
|
Cerebral atrophy, Dystonia, Amyotrophic lateral sclerosis |
ORPHA:1320 |
| Mowat-Wilson Syndrome |
|
Broad-based gait, Conductive hearing impairment, Impaired pain sensation, Recurrent otitis media,... |
ORPHA:2152 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility |
ORPHA:730 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Hypospadias, Bifid scrotum, Polymicrogyria, Recurrent otitis media, Bruxism, Septat... |
ORPHA:261537 |
| Bardet-Biedl Syndrome |
|
Inflammation of the large intestine, Otitis media, Aganglionic megacolon, Rhinitis, Abnormality o... |
ORPHA:110 |
| Athyreosis |
|
Thyroid agenesis, Hypothyroidism |
ORPHA:95713 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Optic atrophy, Hypospadias, Bifid scrotum, Polymicrogyria, Recurrent otitis media, ... |
ORPHA:261552 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Inflammation of the large intestine |
ORPHA:70591 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Dystonia, Brain atrophy, Failure to thrive, Axial hypotonia |
OMIM:618278 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dystonia |
ORPHA:79233 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypotonia, Dystonia |
OMIM:618222 |
| Lowe Oculocerebrorenal Syndrome |
|
Neonatal hypotonia, Failure to thrive, Hypotonia, Aggressive behavior, Motor stereotypy |
OMIM:309000 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Stereotypical hand wringing, Infantile muscular hypotonia, Exaggerated startle response, Optic di... |
ORPHA:438213 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Spasticity, Facial paralysis, Cerebellar atrophy, Limb dystonia, Peripapillary atrophy, Dystonia |
OMIM:175780 |
