| Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... |
OMIM:274600 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... |
OMIM:600791 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear |
ORPHA:3230 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Sensorineural hearing impairment, Somatic sensory dysfunction, Hand tremor, Steppage gait |
OMIM:300905 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Feeding difficulties |
OMIM:617787 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
| Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
| Autosomal Recessive Spastic Paraplegia Type 24 |
|
Sensorineural hearing impairment, Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus |
ORPHA:101004 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment, Ataxia |
OMIM:212850 |
| Pendred Syndrome |
|
Sensorineural hearing impairment, Thyroid carcinoma, Hypoplasia of the cochlea, Hypothyroidism, E... |
ORPHA:705 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Deafness, Autosomal Recessive 2 |
|
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction |
OMIM:600060 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Impaired vibration sensation at ankles, Dysdiadochokinesis, Bab... |
ORPHA:101007 |
| Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
| Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
| Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:220290 |
| Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:617605 |
| Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
| Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:600974 |
| Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts |
|
Sensorineural hearing impairment, Lower limb spasticity, Babinski sign, Clonus |
ORPHA:139444 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
| Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
| Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
| Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
| 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 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
| Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Babinski sign, Optic atrophy, Tremor, Abnormality of somatosensory evoked pote... |
ORPHA:52368 |
| Ravine Syndrome |
|
Failure to thrive, Ataxia, Decreased body weight, Atrophy/Degeneration affecting the brainstem, S... |
ORPHA:99852 |
| Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia |
|
Sensorineural hearing impairment, Hearing impairment, Elevated circulating creatine kinase concen... |
OMIM:310490 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:136600 |
| Deafness, Autosomal Recessive 37 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:607821 |
| Fetal Iodine Deficiency Disorder |
|
Hearing impairment, Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
| Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
| Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology, Tetraplegia |
ORPHA:3465 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Sensorineural hearing impairment, Ataxia, Abnormal pyramidal sign, Profound sensorineural hearing... |
OMIM:619196 |
| Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
| Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
| Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Abn... |
ORPHA:231169 |
| Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
| Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Torticollis, Lingual dystonia, Axial dystonia, Laryngeal dystonia, Craniofacial dystonia, Limb dy... |
ORPHA:329466 |
| Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
| Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
| 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 Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231183 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Spinocerebellar atrophy, Elevated alpha-fetoprotein, Head tremor, ... |
ORPHA:95433 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
| Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Slender build, Hemidystonia, Gait ataxia, Limb dystonia, Torsion dystonia, Generaliz... |
OMIM:128101 |
| Spastic Paraparesis-Deafness Syndrome |
|
Sensorineural hearing impairment, Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait distu... |
ORPHA:2815 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| 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 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
| Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
| 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 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 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
| 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, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
| 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 |
| Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
| 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 Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
| 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 |
| Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| 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 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
| 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 |
| Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
| Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Prolonged somatosensory evoked potentials, EEG with parietal focal spike waves, Writer's cramp, E... |
ORPHA:163727 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Impaired vibratory sensation, Abnormality of the auditory canal, Hearing impai... |
ORPHA:319199 |
| Spinocerebellar Ataxia 31 |
|
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:117210 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
| Usher Syndrome, Type I |
|
Sensorineural hearing impairment, Absent vestibular function |
OMIM:276900 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Ataxia |
OMIM:208750 |
| Spinocerebellar Ataxia Type 37 |
|
Sensorineural hearing impairment, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Myoclonu... |
ORPHA:363710 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Fetal Cytomegalovirus Syndrome |
|
Sensorineural hearing impairment |
ORPHA:294 |
| Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Cerebral cortical atrophy, Dysmetria, Mild hearing impairment, Gait ataxia, Spasticity, Cerebella... |
OMIM:611390 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Cerebral atrophy, Generalized hypotonia, Spasticity, Cerebellar atrophy, Hearing impairment, Dyst... |
OMIM:617899 |
| Gemignani Syndrome |
|
Sensorineural hearing impairment, Ataxia, Hemiplegia/hemiparesis, Impaired pain sensation |
ORPHA:2074 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Spastic dysarthria, Gait ata... |
ORPHA:314603 |
| Dystonia 33 |
|
Axial dystonia, Babinski sign, Spasticity, Limb dystonia, Dystonia, Axial hypotonia |
OMIM:619687 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Sensorineural hearing impairment, Decreased nerve conduction velocity, Hand tremor, Impaired vibr... |
ORPHA:352675 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Failure to thrive, Ataxia, Dysmetria, Generalized hypotonia, Optic disc pallor, Spasticity, Cereb... |
OMIM:617954 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Bilateral se... |
ORPHA:2589 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Nathalie Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2663 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Dystonia 6, Torsion |
|
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... |
OMIM:602629 |
| Striatonigral Degeneration, Infantile |
|
Failure to thrive, Optic atrophy, Choreoathetosis, Spasticity, Dystonia |
OMIM:271930 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Progressive hearing impairment, Dystonia |
OMIM:616113 |
| Dystonia 30 |
|
Torticollis, Oromandibular dystonia, Leg dystonia, Diffuse cerebral atrophy, Writer's cramp, Dyst... |
OMIM:619291 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
| Neurodegeneration With Brain Iron Accumulation |
|
Abnormality of extrapyramidal motor function, Rigidity, Chorea, Optic atrophy, Spasticity, Cerebe... |
ORPHA:385 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Sensorineural hearing impairment, Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ank... |
OMIM:270500 |
| Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Sensorineural hearing impairment, Spastic tetraparesis, Brain atrophy, Cerebellar atrophy |
OMIM:618741 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
| Dystonia 25 |
|
Torticollis, Lingual dystonia, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
| Dystonia With Cerebellar Atrophy |
|
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia |
OMIM:611694 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... |
ORPHA:251282 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
| Episodic Ataxia Type 4 |
|
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo |
ORPHA:79136 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia, Dystonia |
ORPHA:1171 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Tremor... |
OMIM:614561 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
| Autism |
|
Motor stereotypy |
OMIM:209850 |
| Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, 8 |
|
Motor stereotypy |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy |
OMIM:300425 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Involuntary movements, Spasticit... |
OMIM:617282 |
| Fragile X Syndrome |
|
Periventricular heterotopia, Recurrent hand flapping, Macroorchidism, postpubertal, Congenital ma... |
OMIM:300624 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Hearing... |
OMIM:612438 |
| Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... |
OMIM:614296 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
| Cataract-Ataxia-Deafness Syndrome |
|
Sensorineural hearing impairment, Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor... |
ORPHA:1368 |
| Fg Syndrome 4 |
|
Sensorineural hearing impairment |
OMIM:300422 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Testicular atrophy, Parkinsonism with favorable response to dop... |
OMIM:157640 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia |
OMIM:615889 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia |
ORPHA:276183 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia, Ataxia |
OMIM:613909 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Sensorineural hearing impairment, Progressive cerebellar ataxia, Cerebral atrophy, Impaired vibra... |
ORPHA:352641 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Myoclonus, Optic atrophy, Spasticity, Hypsarrhythmia, Hearing impairme... |
OMIM:617669 |
| Wolfram Syndrome 1 |
|
Sensorineural hearing impairment, Testicular atrophy, Ataxia, Hypothyroidism, Tremor, Optic atrop... |
OMIM:222300 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, H... |
OMIM:274300 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
| Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Hy... |
ORPHA:139485 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Parkinsonism, Chorea, Involuntary movements, Weight loss, Caudate atro... |
ORPHA:98934 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment |
ORPHA:71289 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... |
OMIM:125250 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
| Blepharonasofacial Malformation Syndrome |
|
Facial palsy, Torsion dystonia |
OMIM:110050 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Ataxia, Reduced sperm motility, Abnormal sperm head morphology, Babinski sign, Trunc... |
ORPHA:320391 |
| Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sensorineural hearing impairment |
OMIM:620009 |
| Steel Syndrome |
|
Sensorineural hearing impairment |
OMIM:615155 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Low-set ears, Testicular atrophy |
OMIM:601163 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Sensorineural hearing impairment, Ataxia, Babinski sign, Distal sensory impairment, Gait disturba... |
OMIM:617882 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Craniofacial dystonia |
ORPHA:370103 |
| Fetal Iodine Syndrome |
|
Sensorineural hearing impairment, Spastic diplegia, Hemiplegia/hemiparesis |
ORPHA:1910 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Generalized hypotonia, Atrophy/Degeneration ... |
OMIM:617862 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Fasciculations, Decreased fertility |
OMIM:313200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Failure to thrive, Decreased nerve conduction velocity, Dysmetria, Babinski sign, Atrophy/Degener... |
OMIM:618404 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Goiter |
OMIM:274240 |
| Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Sensorineural hearing impairment, Paraplegia, Spasticity, Gait disturbance |
ORPHA:2820 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Sensorineural hearing impairment, Ataxia, Increased serum pyruvate, Myoclonus, Spasticity |
OMIM:545000 |
| Dystonia 23 |
|
Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, C... |
OMIM:614860 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Familial Paroxysmal Ataxia |
|
Torticollis, Hemiplegia, Ataxia, Cerebellar vermis atrophy, Tinnitus, Vertigo, Dystonia |
ORPHA:97 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Limb ataxia, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... |
OMIM:617145 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Generalized hypotonia, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... |
OMIM:619092 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Inability to walk, Brain atrophy, Tremor, Spasticity, Low-set ... |
OMIM:618718 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
| Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Euthyroid goiter |
ORPHA:3327 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
| Rare Non-Syndromic Intellectual Disability |
|
Cerebral atrophy, Generalized hypotonia, Spasticity, Hearing impairment, Dystonia |
ORPHA:101685 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Hemiplegia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, Myoclonus, ... |
ORPHA:352596 |
| Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment |
OMIM:238340 |
| 5-Oxoprolinase Deficiency |
|
Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Sensorineural hearing impairment, Ataxia, Cerebral atrophy, Generalized hypotonia, Hypotonia, Obe... |
OMIM:616756 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Sensorineural hearing impairment, Failure to thrive, Cerebral atrophy, Abnormal pyramidal sign, O... |
OMIM:300475 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Sensorineural hearing impairment, Ataxia, Athetosis, Spasticity, Dystonia |
OMIM:612951 |
| Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Spastic paraplegia, Dystonia, Laryngeal dystonia |
OMIM:619681 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia, Dyst... |
OMIM:619150 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Merrf |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:551 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia |
OMIM:608105 |
| Dystonia 32 |
|
Torticollis, Laryngeal dystonia, Brain atrophy, Limb dystonia |
OMIM:619637 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Abnormal audito... |
OMIM:601455 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Sensorineural hearing impairment, Arm dystonia, Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, ... |
OMIM:601338 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
| Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Cerebral atrophy, Generalized hypotonia, Chorea, Involuntary movements, Cerebellar atroph... |
OMIM:617804 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Corpus callosum atrophy, Optic disc pallor, Cerebellar atrophy... |
OMIM:619389 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Developmental And Epileptic Encephalopathy 38 |
|
Hypertonia, Ataxia, Generalized hypotonia, Dystonia |
OMIM:617020 |
| Developmental And Epileptic Encephalopathy 69 |
|
Cerebral cortical atrophy, EEG abnormality, Myoclonus, Corpus callosum atrophy, Hyperkinetic move... |
OMIM:618285 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1490 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1383 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Sensorineural hearing impairment, Inability to walk, Ankle clonus, Babinski sign, Optic atrophy, ... |
OMIM:618768 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa... |
OMIM:601596 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Sensorineural hearing impairment, Inability to walk by childhood/adolescence, Poor fine motor coo... |
ORPHA:99947 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, EEG... |
ORPHA:157941 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Rigidity, Parkinsonism, Chorea, Opti... |
ORPHA:216873 |
| Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Cerebral atrophy, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:615338 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Hearing impairment, Goiter |
OMIM:617577 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... |
OMIM:617695 |
| Thyroid Dyshormonogenesis 3 |
|
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274700 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... |
ORPHA:98811 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Skin rash, Chorea, Anterior uveitis, Ileal ulcer |
OMIM:616744 |
| Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Azoospermia, Male infertility |
ORPHA:94064 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Cerebral cortical atrophy, EEG abnormality, Involuntary movements, Spasticity, ... |
OMIM:617820 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
| Spastic Paraplegia 44, Autosomal Recessive |
|
Sensorineural hearing impairment, Upper limb spasticity, Dysmetria, Intention tremor, Babinski si... |
OMIM:613206 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Cerebral atrophy, Generalized hypotonia, Spasticity |
OMIM:617393 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
EEG abnormality, Severe muscular hypotonia, Cerebral atrophy, Oculogyric crisis, Myoclonus, Hyper... |
OMIM:614254 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Posteriorly rotated ears |
OMIM:618295 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment |
OMIM:268010 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... |
ORPHA:99027 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Sensorineural hearing impairment, Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequ... |
ORPHA:2590 |
| Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Thyroid defect in oxidation and organification of iodide, Decre... |
ORPHA:95716 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Cerebral atrophy, EEG with focal epileptiform discharges, Generalized hypotonia... |
ORPHA:88616 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Sensory ataxia, Dystonia |
OMIM:619661 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Sensorineural hearing impairment, Inability to walk, Decreased motor nerve conduction velocity, D... |
ORPHA:99950 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma |
OMIM:188550 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Sensorineural hearing impairment, Hearing impairment, Dystonia, Ataxia |
OMIM:616684 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Failure to thrive, Ataxia, Corpus callosum atrophy, Athetosis, Optic atrophy, Tetraparesis, Cereb... |
OMIM:619310 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Ataxia, Tetraparesis, Spasticity, Cerebellar atrophy, Hypotonia, Dystonia, Ton... |
OMIM:618276 |
| Developmental And Epileptic Encephalopathy 107 |
|
Feeding difficulties in infancy, Motor stereotypy |
OMIM:620033 |
| Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
| N-Acetylaspartate Deficiency |
|
Motor stereotypy, Decreased body weight, Generalized hypotonia, Truncal ataxia |
OMIM:614063 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Sensorineural hearing impairment, Hyperalaninemia |
ORPHA:2597 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Sensorineural hearing impairment, Severe muscular hypotonia, Decreased nerve conduction velocity,... |
OMIM:614932 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Cerebral atrophy, Abnormal autonomic nervous system physiology, Spastic paraparesis... |
OMIM:300894 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Sensorineural hearing impairment, Paraparesis, Dysmetria, Hand tremor, Axonal degeneration, Tip-t... |
OMIM:302800 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormality of extrap... |
OMIM:617672 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Sensorineural hearing impairment, Distal sensory impairment, Optic atrophy, Gait disturbance, Hea... |
OMIM:311070 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Liberfarb Syndrome |
|
Sensorineural hearing impairment, Bone spicule pigmentation of the retina, Optic disc pallor, Ret... |
OMIM:618889 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
EEG abnormality, Cerebral atrophy, Limb hypertonia, Choreoathetosis, Cerebellar atrophy, Hearing ... |
OMIM:618247 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Generalized hypotonia, Optic atrophy, Spastic tetraplegia, Cerebellar atrophy,... |
OMIM:618237 |
| Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Babinski sign, Rigidity, Head tremor, Parkinsonism, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
| Waardenburg Syndrome, Type 2B |
|
Sensorineural hearing impairment, White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
| Gabriele-De Vries Syndrome |
|
Tremor, Abnormal pinna morphology, Posteriorly rotated ears, Dystonia |
OMIM:617557 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Hemidystonia-Hemiatrophy Syndrome |
|
Abnormal pyramidal sign, Babinski sign, Hemiparesis, Limb dystonia, Dystonia |
ORPHA:306741 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... |
OMIM:615924 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment |
OMIM:613076 |
| Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... |
OMIM:113650 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Stereotypical hand wringing, Chorea, Dystonia, Axial hypotonia |
OMIM:618760 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Dystonia, Involuntary movements, Spasticity, Hypsarrhythmia |
OMIM:618397 |
| Apert Syndrome |
|
Optic atrophy, Conductive hearing impairment, Sensorineural hearing impairment, Morphological abn... |
ORPHA:87 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia |
OMIM:125370 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Hypsarrhythmia, Macrotia, Hearing impairment |
OMIM:619877 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Sensorineural hearing impairment, Upper limb spasticity, Impaired vibration sensation in the lowe... |
OMIM:270800 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Hypertonia, Ataxia, Failure to thrive, Infantile muscular hypotonia, Atrophy/Degeneration involvi... |
ORPHA:225154 |
| Waardenburg Syndrome, Type 2F |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypermelanotic mac... |
OMIM:619947 |
| Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Failure to thrive, Infantile muscular hypotonia, Cerebral atrophy, Stereotypical hand wringing, S... |
ORPHA:500545 |
| Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
| Episodic Ataxia, Type 9 |
|
Vertigo, Dystonia, Paroxysmal vertigo, Episodic ataxia |
OMIM:618924 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:85297 |
| Intellectual Developmental Disorder, X-Linked 29 |
|
Sensorineural hearing impairment, Babinski sign |
OMIM:300419 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Facial diplegia, Sensorineural hearing impairment, Failure to thrive, Cerebral atrophy, Generaliz... |
OMIM:612073 |
| Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Ataxia, Decreased serum testosterone concentration, Leydig cell insensitivity... |
OMIM:308700 |
| Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
| Caribbean Parkinsonism |
|
Cerebral cortical atrophy, Action tremor, Bradykinesia, Abnormal autonomic nervous system physiol... |
ORPHA:97355 |
| Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait, Low-set ears |
OMIM:618205 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism... |
ORPHA:521406 |
| Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
| Autosomal Recessive Spastic Paraplegia Type 56 |
|
Spastic paraplegia, Spastic gait, Babinski sign, Dystonia |
ORPHA:320411 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Ataxia, Intention tremor, Dystonia, Truncal ataxia, Gait ataxia, Spasticity, Hypotonia, Vertigo, ... |
OMIM:614458 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Sensorineural hearing impairment, Facial palsy |
OMIM:609283 |
| Cardiomyopathy, Dilated, 1J |
|
Sensorineural hearing impairment |
OMIM:605362 |
| Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Abnormal autonomic nervous system physiology, Dysdiadochokinesis, Oculogyric crisis, Park... |
OMIM:618049 |
| Peroxisome Biogenesis Disorder 7B |
|
Sensorineural hearing impairment |
OMIM:614873 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Neuronal loss in central nervous system, Ataxia, Blepharospasm, Cerebellar Purkinje ... |
ORPHA:98759 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Sensorineural hearing impairment, Failure to thrive, Ataxia, Cerebral atrophy, Intention tremor, ... |
OMIM:617951 |
| Ciliary Dyskinesia, Primary, 46 |
|
Hearing impairment, Reduced sperm motility, Recurrent otitis media |
OMIM:619436 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Bradykinesia, Hemidystonia, Abnormal pyramidal sign, Optic atrophy, Spastic tetraparesis, Spastic... |
OMIM:619052 |
| Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Abnormality of ext... |
OMIM:260300 |
| Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Pigmentary retinopathy, Optic disc drusen, Hyperthreoninemia, E... |
OMIM:204000 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Upper limb spasticity, Babinski sign, Spastic gait, Lower limb spasticity, Dystonia |
OMIM:619966 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia |
ORPHA:98809 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone |
OMIM:188570 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia |
ORPHA:36899 |
| Abcd Syndrome |
|
Albinism, White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Total intestinal a... |
OMIM:600501 |
| Distal Monosomy 10Q |
|
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... |
ORPHA:96148 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f... |
ORPHA:79263 |
| Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Feeding difficulties |
OMIM:616341 |
| Gorham-Stout Disease |
|
Torticollis, Hearing impairment, Abnormality of the internal auditory canal |
ORPHA:73 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Decreased nerve conduction v... |
ORPHA:1188 |
| Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, EEG abnormality, Acroparesthesia, Hoffmann sign... |
ORPHA:206448 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Frequen... |
OMIM:619054 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, EEG abnormality, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, C... |
ORPHA:71277 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Failure to thrive, Neonatal hypotonia, Cerebral atrophy, Choreoathetosis, Spasticity, Hypotonia, ... |
OMIM:616034 |
| Developmental And Epileptic Encephalopathy 7 |
|
Spastic tetraparesis, Generalized hypotonia, Dystonia, Hypotonia |
OMIM:613720 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Tremor, Dystonia, Axial hypotonia |
OMIM:619651 |
| Episodic Ataxia, Type 2 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Tinnitus, Vestibular dysfunction, Pares... |
OMIM:108500 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, EEG abnormality, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Para... |
OMIM:606777 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Macrotia, Anteverte... |
ORPHA:544254 |
| Developmental And Epileptic Encephalopathy 17 |
|
Cerebral atrophy, Chorea, Athetosis, Hypsarrhythmia, Dystonia |
OMIM:615473 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Neonatal hypotonia, EEG abnormality, Hyperkinetic movements, Choreoathe... |
OMIM:618218 |
| Striatonigral Degeneration, Childhood-Onset |
|
Hypertonia, Dystonia, Craniofacial dystonia |
OMIM:617054 |
| Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Sensorineural hearing impairment, Decreased motor nerve conduction velocity, Distal sensory impai... |
OMIM:118300 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
| Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... |
ORPHA:1435 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Anteverted ears, Macrotia |
OMIM:615541 |
| Spinocerebellar Ataxia 12 |
|
Cerebral cortical atrophy, Progressive cerebellar ataxia, Action tremor, Dysmetria, Axial dystoni... |
OMIM:604326 |
| Juvenile Huntington Disease |
|
Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidi... |
ORPHA:248111 |
| Folinic Acid-Responsive Seizures |
|
Sensorineural hearing impairment, Hypertonia, Ataxia, Chorea, Optic atrophy, Cerebellar atrophy, ... |
ORPHA:79097 |
| Infantile Convulsions And Choreoathetosis |
|
Chorea, Athetosis, Normal interictal EEG, Choreoathetosis, Involuntary movements, Paroxysmal dysk... |
ORPHA:31709 |
| Christianson Syndrome |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Truncal ata... |
ORPHA:85278 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... |
ORPHA:382 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Progressive cerebellar ataxia, Dysmetria, Vestibular areflexia,... |
ORPHA:504476 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Difficulty walking, Gait ataxia, Spas... |
OMIM:617807 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hypertonia, Neonatal hypotonia, Babinski sign, Optic atrophy, Low-set ears, Dystonia, Bilateral s... |
OMIM:264470 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
EEG abnormality, Babinski sign, Chorea, Choreoathetosis, Spasticity, Low-set ears, Dystonia |
OMIM:618451 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... |
OMIM:612319 |
| Alternating Hemiplegia Of Childhood 2 |
|
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia |
OMIM:614820 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Ch... |
OMIM:300055 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... |
OMIM:618500 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm, Recurrent otitis media |
OMIM:618449 |
| Huntington Disease-Like 3 |
|
Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... |
ORPHA:157946 |
| Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Arm dystonia, Generalized dyst... |
OMIM:619565 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... |
OMIM:618093 |
| Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Chorea, Spasticity, Hypsarrhythmia, Hypotonia, Dystonia, Axial hypotonia |
OMIM:616139 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Unilateral vestibular schwannoma |
OMIM:603641 |
| Deafness, Autosomal Dominant 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:605192 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Ataxia, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotrop... |
OMIM:308750 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Motor stereotypy, Inability to walk, Myoclonus, Hypsarrhythmi... |
ORPHA:411986 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2866 |
| Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Spastic paraplegia, Babinski sign, Dystonia |
OMIM:615030 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Non-medullary thyroid carcinoma |
OMIM:616534 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Hypertonia, Failure to thrive, Dysmetria, Intention tremor, Abnormal pyramidal sign, Optic disc p... |
OMIM:617964 |
| Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, EEG abnormality, Generalized hypotonia, Hypotonia |
OMIM:239500 |
| Aarskog-Scott Syndrome |
|
Large earlobe, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, El... |
OMIM:305400 |
| Peroxisome Biogenesis Disorder 5B |
|
Sensorineural hearing impairment, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait, O... |
OMIM:614867 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Frequent falls, Tremor, Dystonia, Axial hypotonia |
OMIM:619647 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Spastic paraplegia, Dystonia, Spastic ataxia |
OMIM:108600 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Dysmetria, Generalized hypotonia, Hemiparesis, Moderate sensorineural hearing impairment, Spastic... |
OMIM:251950 |
| Usher Syndrome, Type Iiia |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:276902 |
| Leigh Syndrome With Leukodystrophy |
|
Failure to thrive, Progressive cerebellar ataxia, Optic atrophy, Progressive spastic paraplegia, ... |
ORPHA:255241 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Abnormal pinna morphology, Ataxia, Cerebral cortical atrophy, Stereotypical han... |
OMIM:614104 |
| Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Sensorineural hearing impairment, Tremor, Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... |
ORPHA:107 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Clumsiness, Impaired vibratory s... |
OMIM:610738 |
| Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
| Xq28 (MECP2) duplication |
|
Motor stereotypy, Inability to walk, Progressive spasticity, Gait ataxia, Macrotia |
DECIPHER:45 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, EEG abnormality, Myoclonus, Spasticity, Dystonia |
OMIM:617829 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Dystonia, Spastic tetraplegia, Axial hypotonia |
OMIM:251280 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... |
OMIM:261640 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Brain atrophy, Generalized hypotonia, Atrophy/Degeneration affecting the brainstem, Spasticity, H... |
OMIM:616277 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia |
OMIM:618709 |
| Spinocerebellar Ataxia Type 2 |
|
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Gene... |
ORPHA:98756 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Rig... |
OMIM:613135 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Failure to thrive, Generalized hypotonia, Optic atrophy, Choreoathetosis, Spasticity, Spastic tet... |
OMIM:618238 |
| Spinocerebellar Ataxia Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormal pyramidal sign, Vocal cord paralysis, Vestibu... |
ORPHA:98757 |
| Spinocerebellar Ataxia 17 |
|
Neuronal loss in central nervous system, Ataxia, Bradykinesia, Limb ataxia, Dysmetria, Intention ... |
OMIM:607136 |
| Lowe-Kohn-Cohen Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2408 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetraplegia |
OMIM:104290 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2027 |
| Primary Dystonia, Dyt21 Type |
|
Torticollis, Axial dystonia, Blepharospasm, Laryngeal dystonia, Limb dystonia, Focal dystonia, Dy... |
ORPHA:306734 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Abnormality of extrapyramidal motor function, Generalized hypotonia, Athetosis, Hypotonia... |
OMIM:615159 |
| Ogden Syndrome |
|
Torticollis, Hypertonia, Cerebral atrophy, Shuffling gait, Abnormal head movements, Macrotia, Low... |
ORPHA:276432 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... |
OMIM:617284 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... |
OMIM:201050 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Facial diplegia, Hypogonadism |
OMIM:160900 |
| Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebral atrophy, Generalized hypotonia, Hyperkinetic movements, Chorea, Athetosis, Involuntary m... |
OMIM:617493 |
| Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia |
OMIM:606438 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Sensorineural hearing impairment, Decreased sensory nerve conduction velocity, Hand tremor, Decre... |
OMIM:162400 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Athet... |
ORPHA:280219 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Generalized hypotonia, Parkinsonism, Craniofacial dyst... |
ORPHA:71517 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Cerebral atrophy, Abnormal autonomic nervous system physiology, Spastic paraparesis... |
ORPHA:329284 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, EEG abnormality, Bradykinesia, Generalized hypotonia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
| Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... |
OMIM:613074 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Dysphagia, Motor stereotypy, Babinski sign, Spasticity |
OMIM:612069 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter |
ORPHA:319487 |
| Chromosome 18P Deletion Syndrome |
|
Small for gestational age, Dystonia, Macrotia |
OMIM:146390 |
| Infantile Cerebellar-Retinal Degeneration |
|
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Athetosis, Optic atrophy, Ce... |
OMIM:614559 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:118800 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Oculogyric crisis, Generalized hypotonia, Rigidity, Focal dystonia, Babinsk... |
ORPHA:101150 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Cerebral atrophy, Myoclonus, Hyperkinetic movements, Choreoathetosis, Hypotonia, Dystonia |
OMIM:618497 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Small for gestational age, Generalized hypotonia, Optic atrophy, Spasticity, H... |
OMIM:614702 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Spastic tetraparesis, Failure to thrive, Progressive cerebellar ataxia, Dystonia |
ORPHA:67046 |
| Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... |
ORPHA:53583 |
| Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Generalized hypotonia, Tremor, Writer's cramp, Hypotonia |
OMIM:159900 |
| Crouzon Syndrome |
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