Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... |
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 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Feeding difficulties |
OMIM:617787 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... |
OMIM:616515 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Pendred Syndrome |
|
Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp... |
ORPHA:705 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Impaired pain sensation, Sensorineural hearing impairment, Impaired distal vibration sensation, H... |
OMIM:300905 |
Deafness, Autosomal Recessive 2 |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment |
OMIM:600060 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 89 |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:613916 |
Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
Deafness, Autosomal Recessive 18B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614945 |
Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
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 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment, Ataxia |
OMIM:212850 |
Deafness, Autosomal Dominant 4B |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:614614 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
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 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... |
OMIM:300614 |
Deafness, Autosomal Recessive 37 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:607821 |
Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter, Hearing impairment |
OMIM:228355 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d... |
OMIM:128101 |
Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d... |
ORPHA:52368 |
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 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, 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 |
Ravine Syndrome |
|
Decreased body weight, Ataxia, Abnormal auditory evoked potentials, Anorexia, Atrophy/Degeneratio... |
ORPHA:99852 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Dystonia 30 |
|
Torticollis, Diffuse cerebral atrophy, Writer's cramp, Impulsivity, Aggressive behavior, Leg dyst... |
OMIM:619291 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Usher Syndrome Type 1 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... |
ORPHA:231169 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231183 |
Autosomal Recessive Spastic Paraplegia Type 24 |
|
Sensorineural hearing impairment, Tip-toe gait, Scissor gait |
ORPHA:101004 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal vestibular function, Abnormal sperm tail morphology, Abnormal spermato... |
OMIM:611102 |
Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Impaired vibration sensation at ankles, Dysdiadochokinesis, Abn... |
ORPHA:101007 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:136600 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... |
ORPHA:329466 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Hypotonia, Limb dystonia, Hearing im... |
OMIM:620270 |
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 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 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 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, Impaired Intellectual Development, 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 Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
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 Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Paroxysmal dystonia, EEG with parietal focal spike waves, Writer's cramp, Prolonged somatosensory... |
ORPHA:163727 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Ataxia, Sensorineural hearing impairment, Dystonia, Profound sensorineural hearing impairment, He... |
OMIM:619196 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia, Torticollis |
ORPHA:71518 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Periventricular heterotopia... |
OMIM:300624 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment |
ORPHA:94064 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy, Dysphagia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive |
OMIM:271930 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Dystonia, Progressive cerebellar ataxia, Dysphagia, Craniofacial... |
OMIM:611694 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia |
OMIM:117210 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia |
ORPHA:1171 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-... |
ORPHA:251061 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Abnormality of the auditory canal, Impaired proprioception, Upper l... |
ORPHA:319199 |
Nathalie Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2663 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity, Hearing impair... |
OMIM:617899 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Bilate... |
ORPHA:314603 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Ataxia |
OMIM:208750 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Optic atrophy, Spinocerebellar atrophy, Mil... |
ORPHA:95433 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age, Hypotonia, Bruxism, Spasticity |
ORPHA:356996 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Progressive hearing impairmen... |
OMIM:614296 |
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia, Decreased body... |
OMIM:618284 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Goiter, Elevated circulating thyr... |
OMIM:274300 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Hypotoni... |
OMIM:617954 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... |
OMIM:609425 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Impaired vibration sensati... |
ORPHA:352675 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Hearing imp... |
OMIM:613724 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Cerebral cortical atrophy, Craniofacial dystonia |
ORPHA:370103 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Bruxism, EEG abnormality, Self-injurious behavior, Brai... |
OMIM:618718 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Dystonia 32 |
|
Limb dystonia, Torticollis, Brain atrophy, Dysphagia, Laryngeal dystonia |
OMIM:619637 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia... |
OMIM:616291 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Dystonia 25 |
|
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Low-set ears |
OMIM:601163 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Dysdiadochokinesis, Gait d... |
ORPHA:363710 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Blepharonasofacial Malformation Syndrome |
|
Facial palsy, Torsion dystonia |
OMIM:110050 |
Dystonia 33 |
|
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity |
OMIM:619687 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Hypotonia, EEG abnormality, Truncal ataxia, Abnormal repetitive mannerisms,... |
OMIM:608636 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Axial hypotonia, Dystonia, Ataxia, Aggressive behavior, Chorea, EEG abnormality, Inappropriate la... |
OMIM:619150 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:79136 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Goiter |
OMIM:274240 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... |
OMIM:602629 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Hypotonia, Spastic tetrapleg... |
ORPHA:599373 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Dysphagia... |
OMIM:222300 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Euthyroid goiter |
ORPHA:3327 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Spastic diplegia, Hypsarrhythmia, Generalized hypotonia, Abnormal repetitive manne... |
OMIM:617830 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment |
OMIM:238340 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Dystonia, Tremor, Impaired vibration sensation in the lower limbs, Impaired propr... |
ORPHA:251282 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Hypotonia, Hand tremor, Dysphagia, Gait ataxia, Atrophy/Degeneration affectin... |
OMIM:617862 |
Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Dystonia, Spasticity |
ORPHA:309169 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Recurrent hand flapping, Posteriorly rotated ears, Low-set ears |
OMIM:618147 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Axial hypotonia, Chorea, EEG abnormality, Self-injurious behavior, Dystonia, Stereotypical hand w... |
OMIM:618760 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Hypothyroidism, Hearing impairment |
OMIM:617577 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lower limb spasticity, Ataxia, Sensorineural hearing impairment, Hypotonia, Obesity, Cerebral atr... |
OMIM:616756 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, EEG abnormality, Generalized hypotonia, Ab... |
OMIM:239500 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Inability to walk, Cerebral atrophy, Choreoathetosis, Bruxism, Conductive hearing impai... |
OMIM:618497 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... |
OMIM:618404 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Axial hypotonia, Generalized dyston... |
OMIM:619389 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Hypotonia, EEG abnormality, Self-injurious behavior, Dystonia, Spasticity, Abnormal repetitive ma... |
OMIM:617820 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Adult onse... |
ORPHA:1368 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Violent behavior, Impulsivity, Tremor, Rigidity, Chorea, Optic atrophy, Dysphagia, Focal dystonia... |
ORPHA:216873 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Se... |
ORPHA:95716 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Dystonia, ... |
OMIM:300475 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ... |
OMIM:160900 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Axial hypotonia, Tremor, Agitation, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Waddling gait, Ataxia, Sensorineural hearing impairment, Distal sensory impairment, Steppage gait... |
OMIM:617882 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Brain atrophy, Low-se... |
OMIM:619092 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Episodic generalized hypotonia, Sensorineural hearing impairment, Optic atrophy, Hypotoni... |
OMIM:601338 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Ataxia, Sensorineural hearing impairment, Athetosis, Dystonia, Spasticity |
OMIM:612951 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Posteriorly rotated ears, Impulsivity, Gait ataxia, Low-set ears, Recurrent hand flapping |
OMIM:619717 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Laryngeal dystonia, Spastic paraplegia, Dystonia |
OMIM:619681 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Vertigo, Dystonia, Tinnitus, Cerebellar vermis atrophy |
ORPHA:97 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Large e... |
OMIM:305400 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... |
ORPHA:101085 |
Apert Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... |
ORPHA:87 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Optic atrophy, Spastic tetraplegia, Generalized hypotonia, Dystonia, Failure ... |
OMIM:618237 |
Developmental And Epileptic Encephalopathy 107 |
|
Feeding difficulties in infancy, Abnormal repetitive mannerisms |
OMIM:620033 |
Developmental And Epileptic Encephalopathy 7 |
|
EEG with burst suppression, Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:613720 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis |
OMIM:600193 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... |
OMIM:617695 |
N-Acetylaspartate Deficiency |
|
Generalized hypotonia, Truncal ataxia, Decreased body weight, Abnormal repetitive mannerisms, Sel... |
OMIM:614063 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment, Heterochromia iridis |
OMIM:616460 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Hypotonia, Progressive cerebellar ataxia, Dystonia, Hearing impairment |
ORPHA:139485 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Spastic Ataxia 1, Autosomal Dominant |
|
Spastic ataxia, Spastic paraplegia, Dysphagia, Dystonia |
OMIM:108600 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Severe muscular hypotonia, Oculogyric crisis, Chorea, Hypotonia, Cerebral atr... |
OMIM:614254 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... |
OMIM:619947 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Sensory ataxia, Dystonia |
OMIM:619661 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Dysphagia, Choreoathet... |
OMIM:619422 |
Christianson Syndrome |
|
Cerebellar atrophy, Dystonia, Dysphagia, Gait ataxia, Neuronal loss in central nervous system, In... |
ORPHA:85278 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Hyperalaninemia, Sensorineural hearing impairment |
ORPHA:2597 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy, Hypotonia, Abnor... |
OMIM:619470 |
Dystonia 23 |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Head tremor, Limb dystonia, Cere... |
OMIM:614860 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Dyst... |
OMIM:617145 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Chorea, Torsion dystonia, Choreoathetosis, Pa... |
ORPHA:98811 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Tremor, Spasticity, Ataxia, Dystonia |
OMIM:614561 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Axial hypotonia, Severe muscular hypotonia, Decreased nerve conduction velocity, Sensorineural he... |
OMIM:614932 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Sensorineural hearing impairment, Ataxia, Hearing impairment, Dystonia |
OMIM:616684 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy, Dysphagia, Choreoathetosis, Limb hypertonia, EEG abnormalit... |
OMIM:618247 |
Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Hypotonia, Cerebral atrophy, Dysphagia, Chor... |
OMIM:618088 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Sensorineural hear... |
OMIM:157640 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick... |
OMIM:614104 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Sensorineural hearing impairment, Distal sensory impairment, Steppage gait, Dysphagia, Progressiv... |
OMIM:607736 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
Leukodystrophy, Hypomyelinating, 15 |
|
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Dy... |
OMIM:617951 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
Mepan Syndrome |
|
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Hypoto... |
ORPHA:508093 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Hypotonia, Dysphagia, Hypertonia, Bilateral sensorineural hearing impairment, Low-... |
OMIM:264470 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... |
OMIM:617638 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent otitis media, Reduced sperm motility, Hearing impairment |
OMIM:619436 |
Episodic Ataxia, Type 9 |
|
Paroxysmal vertigo, Episodic ataxia, Vertigo, Dystonia |
OMIM:618924 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Hypotonia, Dystonia, Spasticity, Failure to thrive, Global brain atrophy |
OMIM:618276 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit... |
ORPHA:99950 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia |
OMIM:118800 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Craniofacial dystonia |
OMIM:619565 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Feeding difficulties |
OMIM:616341 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Prolonged somatosensory evoked potentials, Paroxysmal dystonia, Writer's cramp, Hand tremor |
OMIM:608105 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Hypsarrhythmia, Axial hypotonia, Spastic tetraplegia, Dystonia |
OMIM:251280 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Attent... |
OMIM:605361 |
Distal Deletion 10Q |
|
Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Unsteady gait, Cochlear... |
ORPHA:96148 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Dystonia |
OMIM:618425 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Chorea, Weight loss, Dystonia, Cerebral cortical atrophy |
ORPHA:98934 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Optic atrophy, Athetosis, Dystonia, Failure ... |
OMIM:619310 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Abnormal head movements, Chorea, Dysmetria, Gait ataxia, EEG ab... |
ORPHA:157941 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Tremor, Rigidity, Chorea, Inappropriate behavior, Dystonia |
ORPHA:401901 |
Usher Syndrome, Type Iiia |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:276902 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Compulsive behaviors, Dystonia |
ORPHA:36899 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Prolonged brainstem auditor... |
OMIM:616881 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Ataxia, Vertigo, Hypotonia, Truncal ataxia, Gait ataxia, Dystonia, Episodi... |
OMIM:614458 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:85297 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor,... |
ORPHA:99027 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Cerebral a... |
OMIM:617916 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Spasticity, Cerebra... |
OMIM:611390 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Infertility, Immotile sperm |
OMIM:618449 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Fa... |
OMIM:250950 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
DECIPHER:45 |
3-Methylglutaconic Aciduria Type 1 |
|
Progressive cerebellar ataxia, Failure to thrive, Spastic tetraparesis, Dystonia |
ORPHA:67046 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Phonic tics, Hippocampal atrophy, Co... |
OMIM:301107 |
Gorham-Stout Disease |
|
Torticollis, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Tremor, Sensorineural hearing impa... |
OMIM:302800 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Chorea, Cerebral atroph... |
ORPHA:500180 |
Hematuria, Benign Familial, 2 |
|
Sensorineural hearing impairment |
OMIM:620320 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Bruxism, Protruding... |
OMIM:618342 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Episodic Ataxia, Type 2 |
|
Abnormal vestibular function, Vertigo, Progressive cerebellar ataxia, Paresthesia, Dystonia, Epis... |
OMIM:108500 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Cerebral atrophy, Dystonia, Spasticity, Neuronal loss in central n... |
OMIM:615924 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Hemidystonia, Spastic tetraparesis, Optic atrophy, Spastic gait |
OMIM:619052 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Sensorineural hearing impairment, Chorea, Optic... |
ORPHA:79097 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Restlessness, Ataxia, Spastic tetraplegia, Dystonia, Infantile muscular hypotonia |
ORPHA:263410 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2027 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Obsessive-compulsive trait, ... |
ORPHA:544254 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter |
ORPHA:319487 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Dystonia, Ataxia, Cachexia, Tremor, Chorea, Dysmetria, Gait ataxia, Dysphagia |
OMIM:618093 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progressiv... |
ORPHA:248111 |
Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Corpus callosum atrophy, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, D... |
OMIM:618285 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious behavior, Compulsive be... |
OMIM:618917 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Bruxism, Cerebral atrophy, Dysphagi... |
OMIM:617435 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Inability to walk, Multifocal epileptiform discharges, Hypsarrhythmia, Large... |
ORPHA:411986 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormality of the outer ear, Self hugging, Head-banging, EE... |
OMIM:182290 |
Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Hypsarrhythmia, Athetosis, EEG abnormality, Dystonia, Recurrent hand flapping |
OMIM:618141 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Optic atrophy, Dysphagia, Cogwheel rigidity, Ch... |
ORPHA:225154 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Impaired distal vibration sensation... |
OMIM:128230 |
Siddiqi Syndrome |
|
Sensorineural hearing impairment, Limb dystonia |
OMIM:618635 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Ataxia, Aggressive behavior, Tremor, Cerebral atrophy, Dyspha... |
OMIM:615157 |
Crouzon Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment |
ORPHA:207 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Atrophy/Degeneration affecting the brainstem, Hypotonia, Generalized hypotonia, Dystonia, Brain a... |
OMIM:616277 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Chorea, Cogwheel rigidity, Hypert... |
OMIM:613135 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Cerebral atrophy, Shuffling gait, Low-set ears, Macrotia |
ORPHA:276432 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Axial hypotonia, Facial hypotonia, Ataxia, Tremor, Spastic parapleg... |
OMIM:300055 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnormal repetiti... |
OMIM:618504 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ... |
OMIM:617807 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dyst... |
OMIM:618238 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Gait ataxia, Dystonia, Spasticity |
OMIM:607317 |
Sulfite Oxidase Deficiency, Isolated |
|
Axial hypotonia, Generalized dystonia, Ataxia, Multifocal epileptiform discharges, Cerebral atrop... |
OMIM:272300 |
Primary Dystonia, Dyt21 Type |
|
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... |
ORPHA:306734 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Chorea, Multifocal epileptiform... |
OMIM:617493 |
Baker-Gordon Syndrome |
|
Ataxia, Choreoathetosis, EEG abnormality, Self-injurious behavior, Dystonia, Neonatal hypotonia, ... |
OMIM:618218 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Rigidity, Chorea, Cerebral atrophy, Dysphagia, Neurodegener... |
OMIM:617672 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Self-injurious behavior, Bruxism, Macro... |
OMIM:618004 |
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 |
Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Kinetic tremor, Rigidity, Limb ataxia, Gait ataxia, Head tremor, Dystonia, Spasticity |
ORPHA:101109 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar atrophy, Chorea, Spastic tetraplegia, Hypotonia, EEG with photoparoxysmal response, At... |
OMIM:619922 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Neonatal hypotonia,... |
OMIM:619690 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Abnor... |
ORPHA:329284 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Dysphagia, Gait ataxia, Generalized hypotonia, L... |
ORPHA:71517 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Dysphagia, Bilateral conductive hearing ... |
OMIM:617802 |
Developmental And Epileptic Encephalopathy 17 |
|
EEG with burst suppression, Chorea, Cerebral atrophy, Hypsarrhythmia, Athetosis, Dystonia |
OMIM:615473 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Cerebellar atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
OMIM:604326 |
Raynaud-Claes Syndrome |
|
Lower limb spasticity, Aggressive behavior, Hypotonia, Cerebral atrophy, Progressive cerebellar a... |
OMIM:300114 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Familial Isolated Dilated Cardiomyopathy |
|
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration |
ORPHA:154 |
Striatonigral Degeneration, Childhood-Onset |
|
Dystonia, Hypotonia, Hypertonia, Dysphagia, Craniofacial dystonia |
OMIM:617054 |
Autosomal Recessive Spastic Paraplegia Type 56 |
|
Spastic paraplegia, Spastic gait, Dystonia |
ORPHA:320411 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment |
OMIM:217400 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Ataxia, Impulsivity, Sensorineural hearing impairment, Cerebral atrophy, Hearing impairment |
OMIM:614116 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Hypotonia, Cerebral atrophy, EEG abnormality, Self-injurious behavior, Generalized hypotonia, Dys... |
OMIM:617268 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Head titubation, Spasti... |
OMIM:312080 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Aggressive behavior, Rigidity, Chorea, Dysp... |
OMIM:607136 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Axial hypotonia, Ataxia, Oculogyric crisis, Tremor, Hypotonia, Dysdiadochokinesis, Abnormal auton... |
OMIM:618049 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Dystonia |
OMIM:620245 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... |
OMIM:620021 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebral atrophy, EEG with irregular generalized spike and wave complexes, Optic atrophy,... |
ORPHA:352596 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... |
ORPHA:1435 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Hearing impairment, Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decre... |
ORPHA:320391 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Sensorineural hearing impairment, Dysmetria, Dysphagia |
OMIM:618098 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Increased neuronal autofluorescent lipopi... |
ORPHA:79263 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Postlingual sensorineural hearing impairment, Dysphagia, Dystonia, Progressive sensorineu... |
OMIM:304700 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Small for gestational age, Oculogyric crisis, Sensorineural hearing impairm... |
OMIM:607371 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Dystonia, Fail... |
OMIM:617964 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:610738 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Neurodegeneration, Compulsive behaviors, Dystonia, Oromandibular d... |
OMIM:615643 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... |
OMIM:612319 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait ... |
OMIM:617302 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Obesity, Protruding ear, Generalized hypoton... |
ORPHA:480907 |
Developmental And Epileptic Encephalopathy 27 |
|
Axial hypotonia, Chorea, Hypotonia, Hypsarrhythmia, Dystonia, Spasticity |
OMIM:616139 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Goiter, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroi... |
OMIM:615108 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Chorea, Optic atrophy, Dystonia, Progressive extrapyramidal muscular rigi... |
ORPHA:401768 |
Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Optic atrophy, Hypotonia, Cerebral atrophy, Dystonia |
OMIM:615338 |
Branchiootic Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... |
ORPHA:52429 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, S... |
OMIM:612716 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ... |
ORPHA:895 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia |
OMIM:619966 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Cryptorchidism, Compulsive behaviors, Low-set ears... |
ORPHA:352490 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis |
ORPHA:66633 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Axial hypotonia, Ataxia, Athetosis, Dystonia |
OMIM:615159 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Pr... |
ORPHA:504476 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... |
ORPHA:100084 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Inappropriate behavior, Disinhibition, Dystonia, Neu... |
OMIM:600795 |
Deafness-Vitiligo-Achalasia Syndrome |
|
EEG abnormality, Sensorineural hearing impairment, Hypopigmented skin patches |
ORPHA:3239 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Small for gestational age, Ataxia, Hypotonia, Choreoathetosis, Limb dystonia, Cerebe... |
OMIM:619054 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Facial hypotonia, Overweight, Hypotonia, Spastic dysarthria, Dystonia, Spasti... |
ORPHA:280763 |
Atypical Rett Syndrome |
|
Restrictive behavior, Impaired pain sensation, Tremor, Tongue thrusting, Hypotonia, Gait ataxia, ... |
ORPHA:3095 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting... |
OMIM:619580 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Hypocholesterolemia, Abnormal repetiti... |
OMIM:610883 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis, Normal interictal EEG |
OMIM:602066 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Axial hypotonia, Chorea, Choreoathetosis, EEG abnormality, Hypertonia, Low-set ears, Dystonia, Sp... |
OMIM:618451 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... |
OMIM:619260 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Generalized hypotonia, Dystonia |
OMIM:616763 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Chorea, Choreoathetosis, Dystonia |
ORPHA:98810 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Dysphagia, Choreoathetosis, Hypertonia, Dystonia |
OMIM:261630 |
Primary Dystonia, Dyt6 Type |
|
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... |
ORPHA:98806 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Hypotonia, Cerebral atrophy, Spasticity, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:617393 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Ataxia, Cachexia, Optic atrophy, Hypotonia, Choreoathetosis, Dyston... |
ORPHA:702 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryngeal dystoni... |
OMIM:617284 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Goiter, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroi... |
OMIM:615109 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Axial hypotonia, Continuous spike and waves during slow sleep, Chorea, Hypoto... |
OMIM:620149 |
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Spastic paraplegia, Dystonia |
OMIM:615030 |
Hemidystonia-Hemiatrophy Syndrome |
|
Dystonia, Limb dystonia |
ORPHA:306741 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Chronic constipation, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Noonan Syndrome |
|
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Ataxia, Dystonia |
OMIM:125370 |
Pontocerebellar Hypoplasia, Type 9 |
|
Axial hypotonia, Facial hypotonia, Abnormal pinna morphology, Optic atrophy, Dysphagia, Hypertoni... |
OMIM:615809 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Hypotonia, Generalized hypot... |
OMIM:614739 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Atrophy/Degeneration affecting the brainstem, Chorea, Optic ... |
ORPHA:98755 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Axial hypotonia, Dystonia, Facial palsy, Ataxia, Rigid... |
OMIM:608804 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Sensorineural hearing impairment, Blue iri... |
OMIM:613265 |
Developmental And Epileptic Encephalopathy 44 |
|
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Failure t... |
OMIM:617132 |
Developmental And Epileptic Encephalopathy 92 |
|
EEG abnormality, Spasticity, Ataxia, Dystonia |
OMIM:617829 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Axial hypotonia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoath... |
ORPHA:319514 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Tremor, Rigidity, Gait ataxia, Limb dystonia |
OMIM:605407 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... |
ORPHA:990 |
Microcephaly-Deafness-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Cupped ear, Low-set ears, Protruding ear |
ORPHA:2533 |
Warsaw Breakage Syndrome |
|
Hypermelanotic macule, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Hearing impair... |
OMIM:613398 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:238750 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
Leber Optic Atrophy And Dystonia |
|
Dystonia, Optic atrophy, Athetosis, Dysphagia, Spasticity |
OMIM:500001 |
Immunodeficiency 70 |
|
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia |
OMIM:618969 |
Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... |
OMIM:600430 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Tremor, Rigidity, Chorea, Dysphagia, Choreoathetosis, Blepharospasm, Neur... |
OMIM:606159 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... |
ORPHA:3306 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Optic atrophy, Hypotonia, Choreoat... |
OMIM:612438 |
Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Chorea, Writer's cramp, Dystonia |
ORPHA:98809 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Leigh Syndrome |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Hypotonia, Generalized hypotonia, Dyston... |
OMIM:256000 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea |
OMIM:166780 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment |
OMIM:221700 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Caudate atrophy, Broad-based gait, Chorea, Progressive gait ataxia, Dyst... |
ORPHA:157946 |
Developmental And Epileptic Encephalopathy 53 |
|
Hypotonia, Hypsarrhythmia, Spastic tetraplegia, Dystonia |
OMIM:617389 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Severe muscular hypotonia, Chorea, Hypotonia, Cerebral atrophy, Opisthotonus,... |
OMIM:616672 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Asymmetry of the ears, Cryptorchidism, Cupped ear, EEG abnormality, Abnormality of t... |
ORPHA:3063 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Hearing impairment, Chorea, Optic atrophy, Impaired pr... |
ORPHA:95 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Foxg1 Syndrome |
|
Dystonia, Hypotonia, Bruxism, Choreoathetosis, Decreased body weight, Spasticity, Abnormal repeti... |
ORPHA:561854 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617992 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Spinocerebellar Ataxia Type 2 |
|
Kinetic tremor, Postural tremor, Chorea, Cerebellar Purkinje layer atrophy, Gait ataxia, Progress... |
ORPHA:98756 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:617044 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Rigidity, Atrophy/Degeneration affecting... |
ORPHA:98759 |
Developmental And Epileptic Encephalopathy 6B |
|
Axial hypotonia, Ataxia, Chorea, Hypotonia, Multifocal epileptiform discharges, EEG with spike-wa... |
OMIM:619317 |
Usher Syndrome Type 2 |
|
Sensorineural hearing impairment, Abnormality of the inner ear, Subcortical cerebral atrophy, Cer... |
ORPHA:231178 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Madras Motor Neuron Disease |
|
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Tinnitus |
ORPHA:137867 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, EEG abnormality, Generalized hypotonia, Dystonia |
OMIM:617836 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Sensorineural hearing impairment, Obesity, Cerebr... |
ORPHA:464282 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Ataxia, Hypoesthesia, Chorea, Dysmetria, Brain atrophy, Dysphagia |
OMIM:618317 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Hypotonia, T... |
ORPHA:280219 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Hypotonia, Truncal ataxia, Prominent antihelix, Generalized hypotonia, Dystoni... |
OMIM:614407 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia |
OMIM:611031 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Optic atrophy, Dystonia |
ORPHA:330050 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lower motor ... |
OMIM:205100 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology |
OMIM:214300 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment... |
OMIM:612674 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Decreased body weight, Axial hypotonia, Facial hypotonia, Pain insensitivi... |
OMIM:300260 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... |
OMIM:617101 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia |
OMIM:615703 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... |
OMIM:617751 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Dystonia |
OMIM:607488 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Unsteady gait, Pica, EEG abnormality, Low-set ears, Recurrent hand flapping |
OMIM:618480 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Tors... |
OMIM:128100 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Postural tremor, Ataxia, Impaired distal proprioception, Optic atrophy, Impaired vibration sensat... |
ORPHA:447896 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia |
OMIM:314250 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7 |
|
Hypotonia, Brain atrophy, Dystonia |
OMIM:620359 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, EEG abnormality, Dystonia |
OMIM:612126 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
Sandifer Syndrome |
|
Abnormal head movements, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflu... |
ORPHA:71272 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Aggressive behavior, Feeding difficulties, High palate... |
OMIM:616809 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Axial hypotonia, Oculogyric crisis, Hypertonia, Generalized hypotonia, Dystonia, Attention defici... |
OMIM:617384 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Dysphagia, Retrocollis, Limb dystonia, Laryngeal dystonia |
OMIM:612067 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... |
ORPHA:401777 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Small for gestational age, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis,... |
OMIM:261640 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Sensorineural hearing impairment |
ORPHA:3225 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Spastic tetraparesis, Optic atrophy, Hypotonia, Spastic d... |
ORPHA:391428 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Sensorineural hearing impairment, Aganglionic megacolon |
ORPHA:2155 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Ataxia, Dysphagia, Dysmetria, Spastic dysarthria, EEG abnormality, Dysdiadoch... |
ORPHA:313772 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Hypertonia, Dystonia, Failure to thrive, Infantile muscular hypotonia |
ORPHA:26792 |
Huntington Disease |
|
Caudate atrophy, Oral-pharyngeal dysphagia, Rigidity, Aggressive behavior, Chorea, Cerebral atrop... |
ORPHA:399 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia |
OMIM:614249 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Continuous Spikes And Waves During Sleep |
|
Dystonia, EEG with generalized polyspikes, Aggressive behavior, EEG with centrotemporal focal spi... |
ORPHA:725 |
Infantile Convulsions And Choreoathetosis |
|
Chorea, Choreoathetosis, Athetosis, Dystonia, Normal interictal EEG |
ORPHA:31709 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Optic atrophy, Hypotonia, Dysphagia, Generalized hyp... |
OMIM:618226 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Dystonia,... |
OMIM:619738 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... |
ORPHA:500159 |
Deafness And Myopia |
|
Sensorineural hearing impairment |
OMIM:221200 |
Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Goiter, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid ... |
OMIM:158350 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-s... |
OMIM:618430 |
Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Cerebral atrophy, Dystonia |
OMIM:610181 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Chorea, Choreoathetosis, EEG abnormality, Hypertonia, Dystonia, Spasticity |
ORPHA:71277 |
22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
ORPHA:1727 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Sensorineural hearing impairment, Dysphagia, Cerebral cort... |
OMIM:615911 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Choreoathetosis, EEG abnormality, Spasticity |
OMIM:606777 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, EEG abnormality, Dystonia, ... |
ORPHA:457205 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Ataxia, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Dysphagia, Opisthotonus, Ch... |
ORPHA:13 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Impulsivity, Sensorineural hearing impairment, Hypotonia, Protrudi... |
OMIM:617854 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Optic disc pallor, Dystonia, Generalized hypotonia, Dysphagia |
OMIM:618230 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Sensorineural hearing impairment, Impaired vibration sensation in the lower limbs, Impaired propr... |
ORPHA:352641 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Cerebra... |
OMIM:611890 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Infantile axial hypotonia, Tremor, Scissor gait, Cerebral atrophy, Dystonia, ... |
ORPHA:521406 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements |
ORPHA:240103 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Dystonia, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Interictal ep... |
OMIM:619157 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Axial hypotonia, Ataxia, Anteverted ears, Multifocal epileptiform discharges, Dysmetria, Dystonia... |
OMIM:618087 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron, Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, At... |
ORPHA:391372 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... |
OMIM:227010 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Spastic diplegia, Ataxia, Dystonia |
OMIM:619065 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Cerebral atrophy, EEG abnormality, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:617873 |
16P11.2P12.2 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Dystonia |
ORPHA:261204 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated interests, Tics, Attentio... |
OMIM:617788 |
Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Ataxia, Dystonia |
OMIM:614820 |
Developmental And Epileptic Encephalopathy 1 |
|
Axial hypotonia, Spastic tetraparesis, EEG with burst suppression, Dysphagia, Hypsarrhythmia, Cho... |
OMIM:308350 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Severe temper tantrums, Ataxia, Ag... |
OMIM:617710 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, S... |
ORPHA:209905 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Ataxia, Hypotonia, Dysmetria, Gait ataxia, Truncal ataxia, Limb ataxia, Appen... |
OMIM:616127 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Rigidity, Chorea, Optic atrophy, Hypotonia, Dysphagia, Blepharospasm, ... |
OMIM:617282 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Postural tremor, Ataxia, Rigidity, Impaired vibration sensatio... |
ORPHA:98808 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Short-segment aganglionic megacolon |
OMIM:619465 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Limb dystonia,... |
ORPHA:93958 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Increased circula... |
ORPHA:3240 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... |
OMIM:618108 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, P... |
OMIM:123450 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Craniometaphyseal Dysplasia |
|
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... |
ORPHA:1522 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Sensorineural hearing impairment, ... |
OMIM:616192 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic otitis media, Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair ... |
OMIM:612650 |
Partington Syndrome |
|
Limb dystonia, Lower limb spasticity, EEG abnormality, Focal dystonia |
OMIM:309510 |
Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... |
OMIM:617796 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Posteriorly rotated ears, Thyroid agenesis, Cryptorchidism, Abnormal antiheli... |
ORPHA:3047 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Dystonia |
OMIM:104290 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Gait ataxia, Brain atrophy, Low-set ears, Abnormal repetitive mannerisms... |
OMIM:616579 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Postural tremor, Ataxia, Tremor, Optic atrophy, Dysphagia, Dysmetria, Dystoni... |
OMIM:607694 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Cachexia, Chorea, Hypotonia, Athetosis, Hypertonia,... |
ORPHA:52503 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... |
ORPHA:794 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Cachexia, Head titu... |
ORPHA:300605 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Lower limb hypertonia,... |
OMIM:610246 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements |
OMIM:245348 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Aggressive behavior, Tremor, Rigidity, Cerebral atrophy, Neurodegeneration, A... |
OMIM:300894 |
Dystonia 9 |
|
Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms, Abnormal circulating... |
ORPHA:79155 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Small for gestational age, Sensorineural hearing impairment, Hypotonia, Cerebral atrophy, Athetos... |
OMIM:612073 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Hand tremor, Neurodegeneration, Dystonia, Spasticity |
OMIM:615889 |
Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... |
OMIM:609166 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Gait imbalance, Low-set ears, Dy... |
OMIM:619312 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Axial hypotonia, Dystonia |
OMIM:619647 |
Spinocerebellar Ataxia Type 11 |
|
Progressive cerebellar ataxia, Dysphagia, Dystonia |
ORPHA:98767 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, ... |
ORPHA:206436 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysphagia, Dysmetria, Dysdiadochokinesis, Dystonia, S... |
OMIM:614487 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... |
ORPHA:206448 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, A... |
ORPHA:138 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Temporal cortical atrophy, At... |
ORPHA:621 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Hypotonia, Microtia, D... |
OMIM:616977 |
4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, ... |
ORPHA:289494 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Low-set ears, Abnormal... |
OMIM:618205 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Abnormal autonomic nervous system physiology, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Torticollis, Head titubation, Hypotonia, Truncal ataxia, Limb ataxia, Limb dy... |
OMIM:617560 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Dysphagia, Dystonia |
OMIM:300857 |
Developmental And Epileptic Encephalopathy 84 |
|
Axial hypotonia, EEG with burst suppression, Chorea, Opisthotonus, Hypsarrhythmia, Large earlobe,... |
OMIM:618792 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Axial hypotonia, Optic atrophy, Dysphagia, Hypsarrhythmia, Dystonia, Cer... |
OMIM:617669 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhy... |
ORPHA:457351 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Protruding ear, EEG abnormality, Athetosis, Bruxism, Abnormal... |
OMIM:613454 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Chorea, Cogwheel rigidity, Attention deficit hyperactivity disorder, Dyst... |
OMIM:619725 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Ataxia, Spastic paraplegia, Optic atrophy, Spastic tetraplegia, Dystonia, Neonatal hypotonia |
OMIM:245349 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Spinocerebellar Ataxia Type 3 |
|
Abnormal vestibular function, Progressive cerebellar ataxia, Dystonia |
ORPHA:98757 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... |
OMIM:619435 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, At... |
ORPHA:10 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Facial palsy, Impaired distal proprioception, Rigidity, Sensorineural hearing... |
OMIM:258450 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Rigidity, Hypotonia, Focal dyst... |
ORPHA:101150 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia |
OMIM:241520 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II |
OMIM:617660 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypotonia, Generalized hypotonia, Dystonia |
OMIM:618244 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Spastic paraplegia, Limb ataxia, Upper limb spasticity, Dystonia |
OMIM:618418 |
Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Spastic paraplegia, Dysmetria, Upper... |
OMIM:609195 |
Björnstad Syndrome |
|
Sensorineural hearing impairment |
ORPHA:123 |
Facioscapulohumeral Dystrophy |
|
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration |
ORPHA:269 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
ORPHA:53583 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, EEG with abnormally slow frequencies, Chorea, Hypotonia, Multifocal... |
ORPHA:70472 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Transketolase Deficiency |
|
Elevated circulating ribitol concentration, Self-injurious behavior, Attention deficit hyperactiv... |
ORPHA:488618 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Tremor, Rigidity, Chorea, Athetosis, Dysdiadochokinesis, Dystonia, Limb dysmetria |
OMIM:213600 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Cerebral atrophy, Dystonia |
OMIM:600116 |
Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Testicular atrophy, Dysphagia |
OMIM:300322 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Cerebral atrophy, Low-set ears, Dystonia, Spasticity |
OMIM:610333 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Sensorineural hearing impairment, Hypercalcemia |
ORPHA:2668 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Appendicular spasticity, Optic disc pallor, Axial hypotonia, Cerebral atrophy, Low-set ears, Dyst... |
OMIM:617762 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct |
ORPHA:18 |
Dystonia 28 |
|
Torticollis, Generalized dystonia, Leg dystonia, Arm dystonia, Attention deficit hyperactivity di... |
ORPHA:589618 |
Dystonia 12 |
|
Tremor, Torticollis, Dysphagia, Dystonia |
OMIM:128235 |
Dystonia 16 |
|
Torticollis, Postural tremor, Dysphagia, Limb dystonia |
ORPHA:210571 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis |
OMIM:614602 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... |
ORPHA:2306 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... |
ORPHA:397612 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Posteriorly rotated ears, Decreased res... |
OMIM:146510 |
Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Hypotonia, Dysmetria, Gait ataxia, Dystonia |
OMIM:203740 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Generalized hypotonia, D... |
OMIM:233910 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Progressi... |
ORPHA:309246 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Generalized dystonia, Ataxia, Rigidity, Hypotonia, Dystonia |
OMIM:618239 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... |
OMIM:617061 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, D... |
OMIM:614898 |
Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia, Abnormal... |
ORPHA:2479 |
Rett Syndrome |
|
Cachexia, Bruxism, Truncal ataxia, Gait ataxia, EEG abnormality, Dystonia, Spasticity, Cerebral c... |
OMIM:312750 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear... |
OMIM:616393 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Failure to thrive, Axial hypotonia, Hyperactivity, Ataxia, Aggressive beha... |
OMIM:300912 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Axonal degeneration, Impaired distal vibration sensat... |
OMIM:208920 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst... |
ORPHA:261197 |
Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Facial palsy, Anorexia, Tremor, Vertigo, Abnormal cranial nerve morp... |
ORPHA:297 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Generalized hypotonia, Dystonia |
OMIM:618224 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Impulsivity, Aggressive behavior, Limb ataxia, Cogwh... |
OMIM:607454 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Facial palsy, Rigidity, Truncal titubation, Chorea, Dysphagia, Opisthotonus, Cog... |
OMIM:607483 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Optic atrophy, Cerebral atrophy, Dysphagi... |
OMIM:610217 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... |
ORPHA:168491 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cachexia, Facial diplegia, Low-set... |
OMIM:618186 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, ... |
ORPHA:98805 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Optic atrophy, Hypotonia, Choreoathetosis, Dystonia, Failure to thrive |
ORPHA:79312 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Hypotonia, Cerebral atrophy, Choreoathetosis, Dystonia... |
OMIM:616034 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Gastroesophageal reflux |
ORPHA:85277 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Dystonia, Sensorineural hearing impairment, Hypsarrhythmia, Low-set ears, Decreased body weight, ... |
OMIM:607906 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor, Obesity, Recurr... |
OMIM:619680 |
Leukodystrophy, Hypomyelinating, 9 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Cerebral atrophy, Dysmetria, Pseudobulbar paralys... |
OMIM:616140 |
D-Glyceric Aciduria |
|
Axial hypotonia, Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Hypo... |
OMIM:220120 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ... |
OMIM:300352 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Recurrent o... |
OMIM:614874 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysphagia, Dysmetria, Gait ataxia, Dysdiadocho... |
OMIM:614381 |
Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... |
OMIM:610253 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, E... |
OMIM:616050 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Sensorineural hearing impairment, Hypoproteinemia |
OMIM:221400 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Hypertriglyceridemia, Hypercalcemia, Multifocal epileptiform discharges, EEG ... |
ORPHA:369837 |
Allan-Herndon-Dudley Syndrome |
|
Axial hypotonia, Small for gestational age, Failure to thrive in infancy, Ataxia, Spastic tetrapl... |
ORPHA:59 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Rigidity, Limb ataxia, Hypertonia, Limb dystonia |
OMIM:618824 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... |
OMIM:613174 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Head titubation, Dysesthesia, Cerebral atrophy, Generalized hypotonia... |
ORPHA:527497 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Dystonia, Limb hypertonia |
ORPHA:324588 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Dystonia, Failure to thrive |
OMIM:250620 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Feeding difficulties in infancy, Chronic constipation, High palate, Attentio... |
OMIM:618825 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia |
OMIM:619301 |
Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:610329 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia |
OMIM:260300 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia |
OMIM:252650 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Abnormal au... |
ORPHA:163921 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Tremor, Optic atrophy, Hypotonia, Dysmetria, Protruding ear, Choreoathet... |
OMIM:617988 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Dy... |
OMIM:277460 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Cerebellar atrophy, Dystonia, Optic atrophy, EEG abnormality, Progressive cerebellar ataxia, Dysp... |
OMIM:618868 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Dystonia, Posteriorly rotated ears, Ataxia, Prominent crus of helix, Inabilit... |
OMIM:617804 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Reduced sperm motility |
OMIM:602271 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, EEG abnormality, Generalized hypotonia, Dystonia, Spasticity |
OMIM:613970 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hypotonia, Dystonia |
ORPHA:139406 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Generalized hypo... |
OMIM:312170 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Hyperactivity, Axial hypotonia, Ataxia, Spastic tetraparesis, Impulsivity, Op... |
ORPHA:35069 |
Albinism-Deafness Syndrome |
|
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... |
ORPHA:998 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Truncal ataxia, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Dystonia, Infantile mus... |
ORPHA:453521 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Focal polymicrogyria, Cryptorchidism, Head-banging, Attention deficit hyperactivity ... |
OMIM:619103 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Axial hypotonia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, ... |
OMIM:618321 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait disturbance, Difficulty ... |
ORPHA:90321 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Neuromuscular dysphagia, Limb ataxia, ... |
ORPHA:227510 |
Birk-Landau-Perez Syndrome |
|
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Optic atrophy, Limb ataxia, Chor... |
OMIM:617595 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Overweight, Spastic paraplegia, Hypertonia, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:614066 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Dystonia, Limb h... |
ORPHA:70594 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Chorea, Hypotonia, Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:606703 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Sensorineural hearing impairment |
OMIM:267300 |
Shigellosis |
|
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, B... |
ORPHA:810 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Optic atrophy, Truncal ataxia, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:252011 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Optic atrophy, Hypotonia, Dysphagia, Choreoathetosis, Dystonia, Spast... |
OMIM:617664 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Aggressive behavior, Narrow palate, Feeding difficulties, Self-... |
ORPHA:313892 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Generalized hypot... |
ORPHA:251347 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Hypotonia, Dysmetria, Gait ataxia, Cho... |
OMIM:604391 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, EEG abnormality, Dystonia, Cerebral cortical at... |
OMIM:617668 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Posteriorly rotated ears, Failure to thrive in infancy, Chorea, Protruding ear, Microtia, Low-set... |
OMIM:618829 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Sensorineural hearing impairment, Hypotonia, Spastic tetraplegia, Opis... |
OMIM:619847 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Increased theta frequency activity in EEG, EEG with focal epileptifo... |
ORPHA:1929 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Dystonia, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxi... |
ORPHA:309256 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... |
ORPHA:102 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac... |
ORPHA:435638 |
Infantile Dystonia-Parkinsonism |
|
Axial hypotonia, Oculogyric crisis, Chorea, Hypertonia, Dystonia, Limb hypertonia |
ORPHA:238455 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L... |
OMIM:212066 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Pseudobulbar paralysis, Dystonia, Cerebral cortical atrophy, Impaired vibr... |
ORPHA:101006 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... |
ORPHA:436159 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Recurrent pneumonia, High palate |
OMIM:615637 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Sensorineural hearing impairment, Ocular albinism |
ORPHA:1000 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Optic atrophy, Hypotonia, Dystonia, Spasticity |
OMIM:617183 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Axial hypotonia, Posteriorly rotated ears, EEG with focal spike waves, Ata... |
OMIM:619229 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia |
OMIM:619302 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, EEG abnormality, Self-injurious behavior, Gait disturbance, Attention de... |
ORPHA:819 |
Alg3-Cdg |
|
Abnormal pinna morphology, Spastic tetraparesis, Hypotonia, Subcortical cerebral atrophy, Hyperto... |
ORPHA:79321 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Spasticity, Hypotonia, Dysmetria, Dystonia |
OMIM:251950 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Ataxia, Hypotonia, Hypsarrhythmia, Head tremor, Contin... |
OMIM:619428 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... |
OMIM:614700 |
Hypokalemic Tubulopathy And Deafness |
|
Sensorineural hearing impairment, Increased circulating renin level |
OMIM:619406 |
Perrault Syndrome 2 |
|
Sensorineural hearing impairment |
OMIM:614926 |
Gapo Syndrome |
|
Dysmenorrhea, Hearing impairment, Optic atrophy, Oligozoospermia, Hypogonadism, Low-set ears, Ame... |
ORPHA:2067 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Dysmetria, Lower limb hypertonia, Pseudo... |
ORPHA:438114 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Aggressive behavior, Tongue thrusting, Unsteady gait, ... |
OMIM:606232 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Low-set ears, Dystonia, Spasticity |
OMIM:619286 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Tremor, Chorea, Impaired distal vi... |
OMIM:606002 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... |
OMIM:171400 |
Rett Syndrome |
|
Stereotypical hand wringing, EEG abnormality, Agitation, Abnormal autonomic nervous system physio... |
ORPHA:778 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Dysdiadochoki... |
ORPHA:352649 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Chorea, Hypotonia, Attention deficit hyperactivity disorder, Recurr... |
OMIM:617600 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Inability to walk, Sensorineural h... |
ORPHA:300570 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia |
ORPHA:99657 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Dystonia |
ORPHA:314632 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Spastic paraplegia, Optic atrophy, ... |
ORPHA:254913 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Decerebrate rigidity... |
ORPHA:309263 |
Dilated Cardiomyopathy With Ataxia |
|
Dystonia, Ataxia, Repetitive compulsive behavior, Optic atrophy, Bilateral sensorineural hearing ... |
ORPHA:66634 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... |
OMIM:301074 |
Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... |
ORPHA:525731 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Pheochromocytoma, Elevated circulating calcitonin concentration, Nod... |
ORPHA:1332 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Rigidity, Truncal ataxia, Dysphagia, Li... |
OMIM:109150 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... |
OMIM:615656 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Bilateral Generalized Polymicrogyria |
|
Axial hypotonia, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Self-injuriou... |
ORPHA:208447 |
Leukodystrophy, Hypomyelinating, 25 |
|
Gait ataxia, Hypotonia, Dystonia |
OMIM:620243 |
Hijazi-Reis Syndrome |
|
Chronic constipation, Abnormal repetitive mannerisms, Gastroesophageal reflux, Gastrostomy tube f... |
OMIM:301094 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Failure to thrive, Axial hypotonia, Hypotonia, Cerebral atrophy, Prominent antihelix, Hypertonia,... |
OMIM:615802 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Bowel incontinence |
ORPHA:168782 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... |
OMIM:616364 |
Lead Poisoning |
|
Abnormal sperm morphology, Decreased female libido, Anorexia, Abnormality of the menstrual cycle,... |
ORPHA:330015 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Generalized hypotonia, Attention def... |
OMIM:610042 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Baralle-Macken Syndrome |
|
Obesity, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy |
OMIM:619255 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:619224 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Hypotonia, Abnormal temper tantrums, Abnormal repetitive ma... |
ORPHA:530983 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti... |
ORPHA:468678 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... |
ORPHA:401973 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Rigidity, Dysphagia, Gait ataxia, Spast... |
ORPHA:98760 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Spastic tetraplegia, Dystonia |
OMIM:618646 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia |
OMIM:602124 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... |
ORPHA:98933 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Attention deficit hyperactivity disorder, ... |
OMIM:619293 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Dystonia, Agitation, Abnormal autonomic nervous system physiology, Bruxism, Recurrent hand flapping |
OMIM:617903 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Caudate atrophy, Aggressive beha... |
OMIM:200150 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Tremor, Brain atrophy, Cerebral cortical hemiatrophy, Generalized hypotonia |
ORPHA:306669 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Chorea, Optic atrophy, Dysphagia, Opisthotonus, Dystonia, Cerebral cortical atrophy |
OMIM:277470 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Optic atrophy, Hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:614702 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Cryptorchidism, Self-injuriou... |
ORPHA:228402 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... |
OMIM:619695 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Axial hypotonia, Ataxia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia |
OMIM:615905 |
Developmental And Epileptic Encephalopathy 86 |
|
Small for gestational age, Generalized hypotonia, Dystonia |
OMIM:618910 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Huntington Disease-Like 3 |
|
Caudate atrophy, Ataxia, Chorea, Frontal cortical atrophy, Dystonia, Spasticity |
OMIM:604802 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Choreoath... |
ORPHA:101 |
Cimdag Syndrome |
|
Ataxia, Sensorineural hearing impairment, Chorea, Hypotonia, Cerebral atrophy, Pontocerebellar at... |
OMIM:619273 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Frontal cortical atrophy, Abnormal repetitive mannerisms, Hypotonia |
ORPHA:228384 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Opisthotonus, Choreoathetosis, Dysto... |
OMIM:619653 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:606943 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Dystonia |
OMIM:605909 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnor... |
ORPHA:909 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Hypotonia, Dystonia |
OMIM:620094 |
Blepharonasofacial Malformation Syndrome |
|
External ear malformation, Optic atrophy, Torsion dystonia, Hearing impairment |
ORPHA:1252 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Impulsi... |
OMIM:614298 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Neuromuscular dysphagia, Rigidity, Dystonia |
ORPHA:240085 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Hea... |
ORPHA:420492 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Weight loss, Opisthotonus, Attention deficit hyperactivi... |
ORPHA:216866 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Optic atrophy, Hypotonia, Choreoathetosis, Dystonia |
ORPHA:289916 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Spastic tetraplegia, Dysmetria, Facial diplegia, Attention def... |
OMIM:619121 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Impaired or... |
ORPHA:53351 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Abnormal vestibular function, Cerebellar atrophy, Dysphag... |
ORPHA:276244 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Infertility, ... |
OMIM:613808 |
Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Axial hypotonia, Spastic tetraplegia, Cerebral atrophy, Generalized hypotonia... |
OMIM:619125 |
Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Torticollis, Spastic tetraplegia, Hypertonia, Dystonia |
OMIM:619071 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Optic atrophy, Dysphagia, Macrotia, Abnormal repetitive man... |
ORPHA:496641 |
Filippi Syndrome |
|
Cerebellar atrophy, Decreased body weight, Optic atrophy, Dystonia |
OMIM:272440 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Aggressive behavior, Tremor, Rigidity, Spastic paraplegia, Dysphagia, Distal... |
OMIM:606693 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Posteriorly rotated ears, Multinodular goiter |
OMIM:620189 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Axial hypotonia, Generalized dystonia, Dystonia, Tremor, Scissor gait, Hypoto... |
OMIM:617013 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Ataxia, Obesity, Dystonia |
ORPHA:459033 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Facial palsy, Temporal cortical atrophy, Brain atrophy, Dystonia, Frontal cortical atrophy |
OMIM:167320 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Macrotia, Bilateral sensorineural hearing impairment, Congenital hypothyroidism |
ORPHA:521445 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive spastic quadriplegia, Pro... |
ORPHA:309271 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Hyperthyroidism, Diabetes mellitus, Facial palsy, Goiter, Facial diplegia, Hy... |
ORPHA:254892 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Sensorineural hearing impairment, Hypotonia, Cerebral atrophy, Dystonia |
OMIM:620167 |
Developmental And Epileptic Encephalopathy 29 |
|
Axial hypotonia, Chorea, Cerebral atrophy, Blepharospasm, Limb dystonia, Spasticity, Failure to t... |
OMIM:616339 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... |
ORPHA:652 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Abnormal vestibular function, Dysphagia, Progressive cerebellar ataxia, Progr... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Abnormal vestibular function, Dysphagia, Progressive cerebellar ataxia, Progr... |
ORPHA:276241 |
Spinocerebellar Ataxia Type 6 |
|
Dystonia, Dysphagia, Gait ataxia, Blepharospasm, Progressive cerebellar ataxia, Choking episodes,... |
ORPHA:98758 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ataxia, EEG with focal sharp waves, Hypotonia, Cerebral atrophy, Hypsa... |
ORPHA:79243 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Hypotonia, Truncal ataxia, Hypsarrhythmia, Dystonia, Failure to thrive |
ORPHA:88639 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Low-set ears, Abnormal repe... |
ORPHA:457279 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ... |
OMIM:619575 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Charge Syndrome |
|
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... |
OMIM:214800 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Pill-rolling tremor, Dystonia, Spasticity, Limb hypertonia |
OMIM:615528 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Recurrent otitis media, Conductive hearing impairment, Abno... |
ORPHA:244 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular... |
ORPHA:420485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavior, Hypertonia, Compulsive behaviors... |
OMIM:300986 |
2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
ORPHA:1001 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Severe muscular hypotonia, Ataxia, Tremor, Rigidity, Vertigo, Ch... |
ORPHA:25 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Obesity, Atrophy/Degeneration... |
OMIM:616267 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with focal spikes, Attention ... |
ORPHA:98784 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... |
ORPHA:521426 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Rigidity, Optic atrophy, Hand tremor, Dysphagia, Dystonia, Spastic paraparesis, Spasticity |
ORPHA:289560 |
Gaucher Disease Type 2 |
|
Spasticity, Dysphagia, Dystonia |
ORPHA:77260 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder, EEG with spike-wave comp... |
ORPHA:64280 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Fair hair, Optic atrophy |
ORPHA:79330 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Decreased body weight, Abnormal repetitive mannerisms, Paroxysmal bursts of l... |
OMIM:618347 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent otitis media, Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Hypotonia, Spastic tetraplegi... |
OMIM:250100 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Chorea, Hypotonia, Cerebral ... |
OMIM:272750 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Cerebral atrophy, Dystonia, Spasticity |
ORPHA:542310 |
Leber Optic Atrophy |
|
Ataxia, Postural tremor, Optic neuropathy, Optic atrophy, Dystonia |
OMIM:535000 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Dysphagia, L... |
ORPHA:79264 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Optic atrophy, Spastic tetra... |
OMIM:616878 |
Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG... |
ORPHA:649 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, Infantile axial hypotonia, EEG with burst suppression, Hypsarrhythmia, Motor tics,... |
OMIM:616973 |
Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar atrophy, Axial hypotonia, Chorea, Hypotonia, Cerebral atrophy, Opisthotonus, Dysphagia... |
OMIM:612389 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Abnormal pinna morphology, Small for gestational age, Ataxia, Hypotonia, Cere... |
OMIM:615471 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... |
ORPHA:324964 |
Duane Retraction Syndrome |
|
External ear malformation, Sensorineural hearing impairment, Blepharospasm, Stenosis of the exter... |
ORPHA:233 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Writer's cramp, Chorea, Leg dystonia, Dysphagia, Focal dystonia,... |
ORPHA:157846 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... |
OMIM:619802 |
Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Tremor, Chorea, Optic atrophy, Hypotonia, Choreoathetosis, Dystonia |
OMIM:615673 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Ataxia, Generalized hypotonia, Dystonia |
OMIM:618416 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
OMIM:619616 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... |
ORPHA:793 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... |
ORPHA:98813 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Reduced sperm motility |
OMIM:608647 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Sensorineural hearing impairment, Generalized dystonia, Dysphagia |
ORPHA:79107 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Ataxia, Dystonia |
OMIM:230650 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Tremor, Rigidity, Head titubation, Hypotonia, Cerebral atrophy, Gait ataxia, Choreoathetosis, Tru... |
OMIM:618877 |
Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
Kleefstra Syndrome |
|
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Cerebral cortical atrophy, Th... |
ORPHA:261494 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Nausea and vomiting, Hyperactivity, Aggressive behavior, Gastroesophageal reflux, High palate, At... |
OMIM:620242 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:614654 |
Gm1 Gangliosidosis |
|
Failure to thrive, Generalized dystonia, Ataxia, Tremor, Optic atrophy, Hypotonia, Dysphagia, Wei... |
ORPHA:354 |
Polyendocrine-Polyneuropathy Syndrome |
|
Progressive hearing impairment, Ataxia, Dystonia |
OMIM:616113 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Liang-Wang Syndrome |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Cerebral atrophy, Dystonia |
OMIM:618729 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Microtia, Hypoplasia of the thymus, Abnormality of the adrenal glands, Conductive... |
ORPHA:861 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Axial hypotonia, Optic nerve hypoplasia, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
ORPHA:572013 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Cerebral atrophy, D... |
ORPHA:572798 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Ataxia, Hypotonia, Dystonia |
OMIM:246900 |
Partington Syndrome |
|
EEG abnormality, Lower limb spasticity, Limb dystonia |
ORPHA:94083 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Dystonia |
OMIM:615010 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Tremor, Rigidity, Dysphagia, Abnormal autonomic nervous system physiology, Dyston... |
OMIM:168600 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Posteriorly rotated ears, Oligozoospermia, Clitoral hypoplasia, Microtia, Low-... |
OMIM:614813 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter |
ORPHA:371428 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Dysphagia, Hypsarrhythmia, Protruding ear, Brain atrophy, Low-set ea... |
ORPHA:447997 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Overf... |
OMIM:617330 |
Polyendocrine-Polyneuropathy Syndrome |
|
Progressive hearing impairment, Ataxia, Dystonia |
ORPHA:453533 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Agitation, ... |
ORPHA:927 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... |
ORPHA:33543 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Hypotonia, Athetosis, Dystonia, Spasticity, Hearing impairment |
ORPHA:357058 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Postural tremor, Ataxia, Dysphagia, Choreoathetosis, Head tremor, Dy... |
ORPHA:64753 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre... |
OMIM:216400 |
Cadds |
|
Cerebellar atrophy, Sensorineural hearing impairment, Dystonia |
ORPHA:369942 |
Metachromatic Leukodystrophy |
|
Dystonia, Ataxia, Tremor, Decreased nerve conduction velocity, Addictive behavior, Decerebrate ri... |
ORPHA:512 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Oligozoospermia... |
ORPHA:91351 |
Cowden Syndrome |
|
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Goit... |
ORPHA:201 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia |
OMIM:616299 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... |
OMIM:619381 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Chronic otitis media, Reduced progressive sperm motility |
OMIM:619608 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... |
ORPHA:431361 |
Pitt-Hopkins Syndrome |
|
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms |
OMIM:610954 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia |
OMIM:616398 |
Hermansky-Pudlak Syndrome 10 |
|
Axial hypotonia, Dystonia, Cerebral atrophy, EEG abnormality, Low-set ears, Generalized hypotonia... |
OMIM:617050 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia |
OMIM:618999 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Hypertonia, Dystonia |
ORPHA:96 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... |
ORPHA:329308 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Axial hypotonia, Dystonia |
ORPHA:289504 |
Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hypothyroidism, Lingual thyroid |
OMIM:606519 |
Manganese Poisoning |
|
Postural tremor, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Hypertonia, Inappropriat... |
ORPHA:306682 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, Low-set ears, Spasticity |
OMIM:314580 |
Pseudo-Torch Syndrome 1 |
|
Axial hypotonia, Hypotonia, Low-set ears, Dystonia, Spasticity, Failure to thrive |
OMIM:251290 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Dystonia, Impulsivity, Rigidity, Optic atrophy, Leg dystonia, Choreoatheto... |
ORPHA:157850 |
Perry Syndrome |
|
Tremor, Rigidity, Weight loss, Inappropriate behavior, Disinhibition, Dystonia |
OMIM:168605 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Cerebral atrophy, Microtia, Low-set e... |
OMIM:301040 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Dystonia, Tremor, Optic atrophy, Dysphagia, Dys... |
ORPHA:845 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Axial hypotonia, Optic atrophy, Dysphagia, Hypsarrhythmia, Increased cup-to-disc ratio, Dystonia,... |
ORPHA:500144 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga... |
ORPHA:96121 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Aggressive behavior... |
OMIM:614756 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Generalized hypotonia, ... |
OMIM:616811 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Progressive spastic quadriplegia, Progressive gait ataxia, Progressive cerebe... |
ORPHA:513436 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Head tremor, Dystonia |
OMIM:619724 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Impulsivity, Aggre... |
ORPHA:580 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Small for gestational age, Hypotonia, Spastic tetraplegia, Hypsarrhythmia, Hypertonia, Dystonia, ... |
OMIM:620024 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, ... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Abnormal repetitive mannerisms |
OMIM:618067 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Axial hypotonia, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Ge... |
OMIM:616875 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Hearing impairment |
OMIM:166220 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Spasticity, Pallidal degeneration, Dysphagia, Dystonia |
OMIM:607236 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Head titubation, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysph... |
OMIM:619708 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Facial hypotonia, Severe muscular hypotonia, Ataxia, External ear m... |
ORPHA:438216 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Agitation, Abnormal autonomic nervous system physio... |
ORPHA:2828 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Atrophy of the spinal cord, Hypotonia, Focal dystonia, Spastic dysarthria, Progr... |
ORPHA:447757 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... |
ORPHA:540 |
Glutaric Acidemia I |
|
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... |
OMIM:231670 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Perive... |
ORPHA:468631 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Intenti... |
OMIM:619475 |
Multiple Endocrine Neoplasia, Type Iib |
|
Aganglionic megacolon, Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyro... |
OMIM:162300 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Aggressive behav... |
ORPHA:2131 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in... |
OMIM:619512 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Dysphagia, Blepharospasm, Dystonia, Neuronal loss in central nervo... |
ORPHA:683 |
Chromosome 18P Deletion Syndrome |
|
Small for gestational age, Posteriorly rotated ears, Hypotonia, Dystonia, Macrotia |
OMIM:146390 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Thickened ears, ... |
OMIM:300966 |
Corticobasal Syndrome |
|
Limb dystonia, Somatic sensory dysfunction, Tremor, Dystonia, Progressive extrapyramidal muscular... |
ORPHA:454887 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... |
ORPHA:90038 |
Alzheimer Disease 3 |
|
Dystonia, Spastic tetraparesis, Dysphagia, Cerebral cortical atrophy, Optic ataxia |
OMIM:607822 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Cholesteatoma |
OMIM:610978 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Rigidity, Progressive gait ataxia, Abnormal autonomic nervous system phy... |
ORPHA:97355 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Absent nipple, Aplasia of the thymus, Facial palsy, Optic disc coloboma... |
OMIM:620186 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Sensorineural hearing impairment, Chorea, Optic atrophy, Dysphagia, Gait ataxia, Hyperton... |
ORPHA:255210 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Impulsivity, Rigidity, Dysphagia, Weight loss, Agitation, Dystonia, Cerebral cort... |
ORPHA:411602 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Axial hypotonia, Asymmetry of the ears, EEG with burst suppression, Cerebral ... |
OMIM:619124 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Ataxia, Tremor, Rigidity, Optic atrophy, Phonic tics, Dysphagia, Bleph... |
OMIM:234200 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Infantile axial hypotonia, Chorea, Dysphagia, Titubation, Gait ataxia, ... |
ORPHA:225147 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... |
ORPHA:522077 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Low-set ears, Recurrent han... |
OMIM:615485 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Hypsarrhythmia, Abnormal cochlea mor... |
ORPHA:798 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Rigidity, Gait ataxia, Brain atrophy, Dystonia |
ORPHA:391411 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Hypertonia, Dystonia, Global ... |
ORPHA:480864 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Tremor, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
ORPHA:765 |
Aicardi-Goutieres Syndrome 9 |
|
Axial hypotonia, Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Weig... |
OMIM:619487 |
Developmental And Epileptic Encephalopathy 38 |
|
Axial hypotonia, Ataxia, Hypsarrhythmia, Dystonia, Limb hypertonia |
OMIM:617020 |
Slc39A8-Cdg |
|
Cerebellar atrophy, Severe muscular hypotonia, Failure to thrive in infancy, Hypsarrhythmia, Low-... |
ORPHA:468699 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia |
OMIM:250850 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Rigidity, Abnormal autonomic nervous system physiology, Limb dystonia, Spasticity... |
OMIM:616840 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... |
ORPHA:513456 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Dec... |
ORPHA:2388 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, EEG with spike-wave complexes, Tremo... |
ORPHA:1934 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
Leigh Syndrome |
|
Cerebellar atrophy, Failure to thrive, Dystonia, Ataxia, Sensorineural hearing impairment, Chorea... |
ORPHA:506 |
Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Corpus callosum atrophy, Hypotonia, Dystonia, Failure to thrive, Cerebral cor... |
OMIM:617339 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypotha... |
ORPHA:2166 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Reduced sperm motility |
OMIM:615434 |
Kcnq2-Related Epileptic Encephalopathy |
|
EEG with burst suppression, Hypotonia, Cerebral atrophy, Hypsarrhythmia, Dystonia |
ORPHA:439218 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Hengel-Maroofian-Schols Syndrome |
|
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Dystonia, Spasticity |
OMIM:619641 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Hypotonia, Dysphagia, Gait ataxia, Generalized hypotonia, Dystonia, Spasticity, Neuronal ... |
OMIM:257220 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Axial hypotonia, Small for gestational age, Ataxia, Optic atrophy, Hypotonia,... |
OMIM:251300 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Labial hypoplasia, ... |
OMIM:620073 |
Classic Galactosemia |
|
Ataxia, Postural tremor, Attention deficit hyperactivity disorder, Dystonia, Action tremor |
ORPHA:79239 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Diffuse cerebral atrophy, Decerebrate rigidity, Low-set ears, Dysto... |
ORPHA:79255 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Sensorineural hearing impairment, Blue iri... |
OMIM:613266 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitiv... |
OMIM:301066 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Impulsivity, Cerebral atrophy, Protruding ear, Microtia, Attention deficit hy... |
OMIM:301030 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Floating-Harbor Syndrome |
|
Restlessness, Broad-based gait, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsi... |
ORPHA:2044 |
3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Sensorineural hearing impairment, Hypotonia, Cerebral atrophy, Dysphagia, Hypertonia, Gen... |
OMIM:617248 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Upper limb postural tremor, Aggressive behavior, Tremor, Rigidity... |
OMIM:612953 |
Parkinsonian-Pyramidal Syndrome |
|
Rigidity, Dysphagia, Abnormal autonomic nervous system physiology, Dystonia, Spasticity, Intentio... |
ORPHA:171695 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:319182 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Impulsivity, Tremor, Neuromuscular dysphagia, Blepharospasm, Dystonia, Progressiv... |
ORPHA:240071 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Hearing impairment, Aggressive behavior,... |
ORPHA:646 |
Cocaine Intoxication |
|
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... |
ORPHA:90068 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Rigidity, Hypersexuality, EE... |
ORPHA:217253 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... |
ORPHA:3260 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overfolded helix, Difficulty walking, Abnormal repetitive mannerisms, Low-set ears |
OMIM:618653 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... |
ORPHA:733 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Scis... |
ORPHA:466722 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... |
OMIM:617718 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Cerebral atrophy, Protruding ... |
OMIM:309590 |
Plague |
|
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... |
ORPHA:707 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas... |
OMIM:620330 |
Fucosidosis |
|
Hypotonia, Spastic tetraplegia, Cerebral atrophy, Low-set ears, Dystonia, Failure to thrive, Spas... |
OMIM:230000 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... |
ORPHA:476126 |
Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermi... |
ORPHA:125 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Tremor, Rigidity, Chorea, Limb ataxia, Gait ataxia, Blepharospasm, Dystonia,... |
ORPHA:48818 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Hypospadias, Cryptorchidism, Abnormality of neuronal migration, Protruding ear... |
ORPHA:464311 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Extrapyramidal muscular rigidity, Tremor, Rigidity, Focal dystonia, Blepharospasm, Inappropriate ... |
ORPHA:99750 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... |
ORPHA:29207 |
Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Anorexia, Tremor, Paucity of anterior ho... |
ORPHA:79139 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Thickened helices, Self-mutilation, Ataxia, Low-set ears, Bruxism, Limb hypertonia, Axial hypoton... |
OMIM:619950 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Propionic Acidemia |
|
Axial hypotonia, Cerebral atrophy, Dystonia, Failure to thrive, Limb hypertonia |
OMIM:606054 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Primary hyperp... |
ORPHA:653 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Hypotonia, Cerebral atrophy, Truncal ataxia, Athetosi... |
OMIM:615356 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Spasticity, Ataxia, Dystonia |
OMIM:617341 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, D... |
OMIM:616271 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal hypotonia, Optic atrophy, Low-set, posteriorly rotated ears, Dystonia |
ORPHA:457193 |
Kinsship Syndrome |
|
Abnormal repetitive mannerisms, Brain atrophy, Low-set ears, Bruxism |
OMIM:619297 |
Coach Syndrome 1 |
|
Optic disc pallor, Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:216360 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Posteriorly rotated ears, Tremor, Hypotonia, Low-set ears, Dystonia, Attention ... |
OMIM:617557 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cerebral cortical atrophy, Spastic tetraparesis, Dystonia |
ORPHA:404451 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Protruding ear, Gait disturbance, Macrotia, Abnormal repetitive... |
ORPHA:464306 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... |
ORPHA:544482 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Rigidity, Resting tremor, Postural tremor, Dystonia |
OMIM:619911 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Generalized dystonia, Dystonia, Spastic tetraparesis, Dysphagia, Failure to thrive |
OMIM:620358 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Small for gestational age, Failure to thrive in infancy, Hypotonia, Cerebral ... |
OMIM:618891 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivi... |
OMIM:618354 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... |
OMIM:615895 |
Phace Syndrome |
|
Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid |
ORPHA:42775 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, He... |
ORPHA:391487 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Adrenal hypoplasia, Hearing impairment |
OMIM:308050 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ataxia, Hypotonia, Dystonia |
OMIM:619167 |
Tetrasomy 9P |
|
Absent gallbladder, Hyperactivity, Glue ear, Cryptorchidism, Abnormal earlobe morphology, Oligozo... |
ORPHA:3310 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... |
ORPHA:99867 |
Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Dystonia |
OMIM:105300 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Tremor, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, Spastici... |
OMIM:615512 |
Niemann-Pick Disease, Type C2 |
|
Dystonia, Ataxia, Hypotonia, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Aggressive behavior, Microtia, Recurrent otitis media, Progressive conductive heari... |
ORPHA:529962 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Ataxia, Hypotonia, Low-set ears, Dystonia, Small earlobe, Failure to thrive |
OMIM:620083 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammat... |
ORPHA:79259 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Aggressive behavior, Sensorineural hearing impairment, Cerebral atrophy, Choreoathetosis, Hyperto... |
ORPHA:17 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra... |
OMIM:607485 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
Legius Syndrome |
|
Hyperactivity, Hypotonia, Vestibular schwannoma, Attention deficit hyperactivity disorder, Dyston... |
ORPHA:137605 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia, Cerebral cortical atrophy |
OMIM:277410 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Facial hypotonia, Small for gestational age, Chorea, Optic... |
ORPHA:404454 |
Arboleda-Tham Syndrome |
|
Dystonia, Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atroph... |
OMIM:616268 |
Mcleod Syndrome |
|
Chorea, Impaired vibration sensation at ankles, Compulsive behaviors, Dystonia |
OMIM:300842 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopic thyroid |
ORPHA:3206 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, Abnormal sal... |
ORPHA:79078 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Decreased bod... |
OMIM:619005 |
Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... |
OMIM:619325 |
Developmental And Epileptic Encephalopathy 100 |
|
Axial hypotonia, Chorea, Hypotonia, Cerebral atrophy, EEG with photoparoxysmal response, Choreoat... |
OMIM:619777 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhyt... |
OMIM:300672 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri... |
ORPHA:508498 |
Syndromic Diarrhea |
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Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Colitis, Intractable diarrhea, Depen... |
ORPHA:84064 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Multinodular goiter |
OMIM:618373 |
Cystinosis |
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Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Delayed puberty, Type I diabetes ... |
ORPHA:213 |
Woodhouse-Sakati Syndrome |
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Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Dystonia, Hearing impairment |
OMIM:241080 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Posteriorly rotated ears, Facial palsy, Decreased response to growth hormone stimu... |
OMIM:615873 |
Autoimmune Lymphoproliferative Syndrome |
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Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
1P36 Deletion Syndrome |
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Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Cryptorchidism, Sensorineura... |
ORPHA:1606 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Combined Oxidative Phosphorylation Deficiency 39 |
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Cerebellar atrophy, Cerebral atrophy, Hypsarrhythmia, Dystonia, Spasticity |
OMIM:618397 |
Carney Complex |
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Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Congenital Factor Xiii Deficiency |
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Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Joubert Syndrome 6 |
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Abnormal repetitive mannerisms, Hypotonia, Ataxia |
OMIM:610688 |
Parkinson Disease 1, Autosomal Dominant |
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Resting tremor, Dystonia, Rigidity, Dysphagia, Global brain atrophy |
OMIM:168601 |
Pilarowski-Bjornsson Syndrome |
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Abnormal repetitive mannerisms, Hypotonia |
OMIM:617682 |
Adult-Onset Dystonia-Parkinsonism |
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Tremor, Rigidity, Dysphagia, Focal dystonia, Frontotemporal cerebral atrophy, Generalized cerebra... |
ORPHA:199351 |
Primary Sclerosing Cholangitis |
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Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C... |
ORPHA:171 |
Pyruvate Carboxylase Deficiency |
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Ataxia, Anorexia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Compulsive behaviors, Recur... |
ORPHA:3008 |
Oculocerebrorenal Syndrome Of Lowe |
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Low-set, posteriorly rotated ears, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Protruding ... |
ORPHA:534 |
Aicardi-Goutieres Syndrome 1 |
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Axial hypotonia, Cerebral atrophy, Dystonia, Spasticity, Self-mutilation |
OMIM:225750 |
Arthrogryposis Multiplex Congenita 5 |
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Optic disc pallor, Hand tremor, Prominent antihelix, Hypertonia, Generalized hypotonia, Dystonia,... |
OMIM:618947 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... |
OMIM:301044 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Neonatal hypotonia, Failure to thrive |
OMIM:614924 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Hypotonia, Dystonia |
OMIM:614105 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Ataxia, Optic neuropathy, Tremor, Optic atrophy, Hypotonia, Generalized hypotonia, Dystonia, Neon... |
OMIM:610505 |
Primrose Syndrome |
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Restlessness, Calcification of the auricular cartilage, Elevated circulating alpha-fetoprotein co... |
OMIM:259050 |
Wiskott-Aldrich Syndrome |
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Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... |
ORPHA:906 |
Hypermanganesemia With Dystonia 1 |
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Tremor, Dystonia, Rigidity, Spastic paraparesis |
OMIM:613280 |
Glycogen Storage Disease Ib |
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Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... |
OMIM:232220 |
Pallister-Hall Syndrome |
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Low-set, posteriorly rotated ears, Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cr... |
ORPHA:672 |
Wolf-Hirschhorn Syndrome |
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Abnormal pinna morphology, Sensorineural hearing impairment, EEG abnormality, Conductive hearing ... |
OMIM:194190 |
Wiskott-Aldrich Syndrome |
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Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... |
OMIM:301000 |
Lipoid Proteinosis |
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Dysphagia, Dystonia |
ORPHA:530 |
Prader-Willi Syndrome Due To Translocation |
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Severe muscular hypotonia, Obesity, Head-banging, Attention deficit hyperactivity disorder, Compu... |
ORPHA:177907 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Thyroid C cell hyperplasia |
OMIM:300952 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, Abnormal... |
OMIM:612474 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Posteriorly rotated ears, Hypospadias, Cryptorchidism, Hydrocele testis, Microtia, Chordee, Low-s... |
OMIM:619522 |
Ataxia-Telangiectasia |
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Ataxia, Tremor, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokinesis, Dystonia, Fai... |
OMIM:208900 |
Supranuclear Palsy, Progressive, 1 |
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Axial dystonia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degeneration, Dysphagia, Seni... |
OMIM:601104 |
Mercury Poisoning |
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Tremor, Anorexia, Dystonia |
ORPHA:330021 |
Glycogen Storage Disease Ic |
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Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... |
OMIM:232240 |
Holoprosencephaly |
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Failure to thrive in infancy, External ear malformation, Chorea, Optic atrophy, Hypotonia, Abnorm... |
ORPHA:2162 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Ataxia, Tremor, Optic atrophy, Dystonia, Spasticity |
OMIM:612199 |
Fumarase Deficiency |
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Necrotizing enterocolitis, Hepatic failure, High palate |
OMIM:606812 |
Aicardi-Goutières Syndrome |
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Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Spastic tetraplegia, Hyperto... |
ORPHA:51 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,... |
OMIM:619573 |
Parkinson Disease 20, Early-Onset |
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Dystonia, Tremor, Rigidity, Dysphagia, Cerebral cortical atrophy |
OMIM:615530 |
Wilson Disease |
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Limb dystonia, Tremor, Rigidity, Decreased nerve conduction velocity, Hypoesthesia, Hand tremor, ... |
OMIM:277900 |
Sarcoidosis, Susceptibility To, 1 |
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Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,... |
OMIM:181000 |
Beta-Ureidopropionase Deficiency |
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Neonatal hypotonia, Hypsarrhythmia, Hypotonia, Dystonia |
OMIM:613161 |
Frontometaphyseal Dysplasia 2 |
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Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... |
OMIM:617137 |
Ogden Syndrome |
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Cerebral atrophy, Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, Hyperbilirubin... |
OMIM:300855 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Small for gestational age, Ataxia, Tremor, Hypotonia, Dysphagia, Dysmetria, Truncal ataxia, Low-s... |
OMIM:220111 |
Gabriele-De Vries Syndrome |
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Facial hypotonia, Posteriorly rotated ears, Small for gestational age, Oral-pharyngeal dysphagia,... |
ORPHA:506358 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Intestinal malrotation, Hiatus hernia, Encopresis, Feeding difficulties, Constipation, Gastroesop... |
OMIM:616682 |
Woodhouse-Sakati Syndrome |
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Choreoathetosis, Protruding ear, Bilateral sensorineural hearing impairment, Dystonia |
ORPHA:3464 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Rigidity, Truncal ataxia, Dysdiadochokinesis, Hypertonia, Dystonia, Spastic paraparesis, Action t... |
ORPHA:309854 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Axial hypotonia, Hypotonia, Opisthotonus, Hypertonia, Generalized hypotonia, Infantile axial hypo... |
ORPHA:508533 |
Aicardi-Goutieres Syndrome 7 |
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Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Cere... |
OMIM:615846 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Pain insensitivity, Ataxia, Hypotonia, Distal sensory impairment, Painless fractures due to injur... |
OMIM:256810 |
Orofaciodigital Syndrome Type 1 |
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Ataxia, Tremor, Dystonia, Chronic otitis media, Hearing impairment |
ORPHA:2750 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Congenital Horner syndrome, Decreased response to growth hormone stimulation test, Cryptorchidism... |
OMIM:619503 |
Proteus Syndrome |
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Macrotia, Low-set ears, Narrow internal auditory canal |
ORPHA:744 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Self-mutilation, Dystonia |
ORPHA:79233 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99413 |
Mosaic Monosomy X |
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Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99228 |
Monosomy X |
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Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99226 |
Turner Syndrome |
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Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:881 |
Idiopathic Camptocormia |
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Amyotrophic lateral sclerosis, Cerebral atrophy, Dystonia |
ORPHA:1320 |
Mowat-Wilson Syndrome |
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Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Impaired pai... |
ORPHA:2152 |
Autosomal Dominant Polycystic Kidney Disease |
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Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility |
ORPHA:730 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bifid scrotum, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Septate vagina,... |
ORPHA:261537 |
Renal Cysts And Diabetes Syndrome |
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Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Septate vagina,... |
ORPHA:261552 |
Chronic Thromboembolic Pulmonary Hypertension |
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Inflammation of the large intestine, Osteomyelitis |
ORPHA:70591 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Failure to thrive, Axial hypotonia, Brain atrophy, Dystonia |
OMIM:618278 |
Athyreosis |
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Thyroid agenesis, Hypothyroidism |
ORPHA:95713 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
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Hypotonia, Dystonia |
OMIM:618222 |
Lowe Oculocerebrorenal Syndrome |
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Cryptorchidism, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Dysphagia, Infantile muscular hypotonia, Dystoni... |
ORPHA:438213 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Limb dystonia, Cerebellar atrophy, Peripapillary atrophy, Dystonia, Spasticity, Facial paralysis |
OMIM:175780 |
Autosomal Recessive Cutis Laxa Type 1 |
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Dystonia |
ORPHA:90349 |