Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
Deafness, Autosomal Recessive 1B |
|
Vestibular dysfunction, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Recessive 84A |
|
Vestibular dysfunction, Hearing impairment |
OMIM:613391 |
Deafness, Autosomal Dominant 65 |
|
Vestibular dysfunction, Progressive hearing impairment |
OMIM:616044 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
Deafness, Autosomal Recessive 89 |
|
Hearing impairment |
OMIM:613916 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Dominant 56 |
|
Hearing impairment |
OMIM:615629 |
Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
Deafness, Autosomal Dominant 4B |
|
Hearing impairment |
OMIM:614614 |
Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Dominant 73 |
|
Hearing impairment |
OMIM:617663 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Dominant 74 |
|
Hearing impairment |
OMIM:618140 |
Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
Deafness, Autosomal Recessive 18B |
|
Hearing impairment |
OMIM:614945 |
Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Deafness, Autosomal Recessive 25 |
|
Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
Deafness, Autosomal Recessive 30 |
|
Progressive hearing impairment, Progressive sensorineural hearing impairment |
OMIM:607101 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
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 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear |
ORPHA:3230 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
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, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Incoordination, Tremor, Spasti... |
OMIM:160120 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower... |
ORPHA:95433 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality |
OMIM:300425 |
Autism |
|
Motor stereotypy, EEG abnormality |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality |
OMIM:608636 |
Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Motor tics |
OMIM:300830 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language |
|
Hearing impairment, Inability to walk, Attention deficit hyperactivity disorder |
OMIM:620038 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity |
DECIPHER:8 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Hearing impairment, Ataxia, Myoclonus |
OMIM:159800 |
Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Inability to walk |
OMIM:606053 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor, Attention deficit hyperactivity disorder |
OMIM:617863 |
Gilles De La Tourette Syndrome |
|
Phonic tics, Attention deficit hyperactivity disorder, Motor tics |
OMIM:137580 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Cardiomyopathy |
OMIM:208750 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Abn... |
ORPHA:231169 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment |
ORPHA:217012 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231183 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tr... |
OMIM:615924 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity |
ORPHA:356996 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Jerky he... |
ORPHA:251282 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia, Spasticity, Atrophy/Degeneration affecting the brain... |
ORPHA:99852 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Hypocalcemia, Laryngeal dystonia, Irritability, Increased bon... |
ORPHA:36913 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Laryngeal dystonia, Irritability, Increased bone mineral dens... |
ORPHA:94089 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia, Unsteady gait |
OMIM:614063 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Recurrent infections of the middle ear, Dilated cardiomyopathy, Hearing impairment, Abnormal card... |
ORPHA:217622 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia, Inability to walk, Cerebral palsy, Chorea, Spasticity |
OMIM:618557 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy, EEG abnormality |
OMIM:300495 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Ataxia, Hyperactivity, Cerebral cortical atrophy, Optic atrophy, Tremo... |
OMIM:300983 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Meniere Disease |
|
Tinnitus, Vertigo, Hearing impairment |
OMIM:156000 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia |
OMIM:615026 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hyperactivity, Optic atrophy, Tremor, Spastic tetraparesis |
OMIM:619470 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Cerebral atrophy, Ankle clonus, Babinski sign, Spasticity, Spas... |
OMIM:616657 |
Episodic Ataxia Type 4 |
|
Frequent falls, Incoordination, Ataxia, Abnormal head movements |
ORPHA:79136 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... |
OMIM:616648 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Hypsarrhythmia |
OMIM:616341 |
Deafness, Autosomal Dominant 41 |
|
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:608224 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity |
OMIM:238700 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Hyperactivity, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Falls, Chorea, Paroxysmal dyskinesi... |
OMIM:619150 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Cardiomyopathy, Dilated, 1J |
|
Sensorineural hearing impairment, Abnormal left ventricular function, Sudden cardiac death, Dilat... |
OMIM:605362 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Abnormal C-peptide level, ... |
ORPHA:79299 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Hyperactivity, Brain atrophy, Tremor, Spasticity, Low-set ears |
OMIM:618718 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spontaneous Periodic Hypothermia |
|
Gait disturbance, Hypothermia, Ataxia, Tremor |
ORPHA:29822 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Athetosis, Progressive extrapyramidal movement disorder, Abnormal head movements,... |
ORPHA:382 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:615048 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... |
OMIM:613074 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination |
OMIM:617182 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Hyperactivity |
OMIM:239500 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Chorea, Tremor, Proteinuria, Hyperuricemia, Oculogyric crisis, ... |
ORPHA:94093 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Hyperactivity, Cerebral atrophy, EEG with focal epileptiform discharges, Chorea... |
ORPHA:88616 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Cerebral atrophy, Spasticity |
OMIM:617393 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Optic Atrophy 11 |
|
Facial diplegia, Ataxia, Hyperactivity, Brain atrophy, Dysmetria, Hyperkinetic movements, Optic a... |
OMIM:617302 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Anteverted ears, Hyperactivity, Macrotia |
OMIM:615541 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Fever, Ataxia, Hemiparesis, Tremor |
OMIM:141500 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, EEG abnormality, Cerebral cortical atrophy, Involuntary movements, Spasticity |
OMIM:617820 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Pseudohypoparathyroidism Type 1A |
|
Laryngeal dystonia, Hypergonadotropic hypogonadism, Short 3rd metacarpal, Calcinosis, Broad dista... |
ORPHA:79443 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia |
OMIM:300660 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Prolo... |
ORPHA:94090 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Stereotypical hand wringing, Chorea |
OMIM:618760 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... |
ORPHA:705 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Cortical myoclonus, Reduced bone mineral density, Depression, Fatig... |
ORPHA:428 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Acropares... |
ORPHA:206443 |
Deafness, Autosomal Recessive 37 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:607821 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
Pseudohypoparathyroidism Type 1C |
|
Laryngeal dystonia, Hypergonadotropic hypogonadism, Short 3rd metacarpal, Calcinosis, Broad dista... |
ORPHA:79444 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Huntington Disease-Like 3 |
|
Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... |
ORPHA:157946 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Lower limb hypertonia, Hypomet... |
ORPHA:2169 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... |
OMIM:125250 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor |
OMIM:264070 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Gait disturbance, Tremor, Kinetic tremor |
OMIM:611808 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Cerebral atrophy, Spasticity, Hypsarrhythmia |
ORPHA:500545 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Cerebral atrophy, Stereotypical hand wringing, Chorea, Gait ... |
OMIM:618917 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... |
OMIM:619092 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hearing impairment, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity, Cerebral atrophy, Cerebellar atrophy |
OMIM:609924 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Short finger, Hyp... |
OMIM:103580 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Recurrent fever, Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia |
OMIM:261630 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Atrial septal defect, Cleft palate, Tracheo... |
OMIM:612561 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Rigidity, Elevated circulating creatine kinase concentration, Tachycardia, Hypoten... |
OMIM:145600 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing, Hypsarrhythmia |
OMIM:616056 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy, Optic atrophy, Cerebral atrophy, Cerebellar atrophy |
OMIM:619690 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
3-Methylglutaconic Aciduria, Type Viii |
|
Sensorineural hearing impairment, Hypertonia, Tremor, 3-Methylglutaconic aciduria, Neutropenia, D... |
OMIM:617248 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Distal sensory impairment, Decreased nerve conduction velocity, Abnormal audi... |
OMIM:601455 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, EEG abnormality, Hyperkinetic movements, Choreoathet... |
OMIM:618218 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Arrhythmia, Oliguria, Difficulty walking, Hype... |
ORPHA:99845 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Hyperactivity, Macrotia |
OMIM:618504 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Sensorineural hearing impairment, Hydroxyprolinuria, Failure to thrive, Recurrent fractures, Incr... |
OMIM:239000 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Cryptorchidism, Micropenis, Small hand, Patchy osteosclerosis, Bifid uvula, Hyperph... |
OMIM:241410 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Jerky head movements, Simultan... |
ORPHA:157941 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Ocul... |
OMIM:612716 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Pseudohypoparathyroidism, Type Ic |
|
Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Hypogonad... |
OMIM:612462 |
Cln5 Disease |
|
EEG with focal spikes, Poor gross motor coordination, Ataxia, Clumsiness, Atrophy/Degeneration af... |
ORPHA:228360 |
Atrial Standstill |
|
Hemiplegia, Ventricular escape rhythm, Abnormal P wave, Flexion contracture, Left ventricular non... |
ORPHA:1344 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... |
ORPHA:1435 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Cerebellar atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Dystonia |
OMIM:618237 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Attention deficit hyperactivity disorder, Lower limb spasticity, Bradykinesia |
OMIM:618878 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Low-set ears, Recurrent hand flapping |
OMIM:620021 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... |
OMIM:600795 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... |
OMIM:617695 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Cardiomyopathy |
OMIM:610100 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:608049 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypertonia, Left ventricular hypertrophy, Hyperalaninemia, Dystonia, Bradycardia |
OMIM:614654 |
Shwachman-Diamond Syndrome |
|
Hepatomegaly, Steatorrhea, Osteopenia, Aplastic anemia, Macrocytic anemia, Proximal femoral epiph... |
ORPHA:811 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa... |
OMIM:601596 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, External ear mal... |
ORPHA:107 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements |
OMIM:245348 |
Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait |
OMIM:182920 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Osteopenia, Osteo... |
OMIM:612562 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia, Spasticity |
OMIM:240800 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Sensorineural hearing impairment, Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Hurler-Scheie Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Abnormal heart valve morphology, Ca... |
ORPHA:93476 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Brain atrophy, Atrophy/Degeneration affecting the brainstem, Ventricular septal defect, Hearing i... |
OMIM:616277 |
Endocardial Fibroelastosis |
|
Abnormal helix morphology, Restrictive cardiomyopathy, Low-set, posteriorly rotated ears, Endocar... |
ORPHA:2022 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Hearing impairment, Bradycardia |
OMIM:614896 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... |
OMIM:615491 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... |
OMIM:261000 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... |
ORPHA:352490 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Increased... |
OMIM:619048 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... |
ORPHA:247815 |
Tetanus |
|
Hypertonia, Opisthotonus, Abnormal autonomic nervous system physiology, Elevated circulating crea... |
ORPHA:3299 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Tremor, C... |
ORPHA:363710 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Hypsarrhythmia |
OMIM:617113 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Irritability, Chvostek sign, Hyperphosphatemia, Nephrocalcinosis, Hypocalcemic seiz... |
OMIM:146200 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
EEG abnormality, Flexion contracture, Micropenis, Hypospadias, Dilated cardiomyopathy, Cryptorchi... |
OMIM:618815 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypertonia, Abnormal autonomic nervous system physiology, Flexion contracture, Inguinal hernia, B... |
OMIM:614498 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Clinodactyly of the 5th finger, Intention tremor, Truncal ataxia, Tapered fing... |
OMIM:614407 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Abnormal pinna morphology, Ataxia, Hyperactivity, Cerebral cortical atrophy, St... |
OMIM:614104 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... |
OMIM:213600 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Gait... |
ORPHA:216873 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Recurrent fever, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosi... |
OMIM:261640 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hypoplasia of penis, Small hand, Patchy osteosclerosis, External ear malformation, ... |
ORPHA:2323 |
Triose Phosphate-Isomerase Deficiency |
|
Central nervous system degeneration, Hypertrophic cardiomyopathy, Decreased nerve conduction velo... |
ORPHA:868 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Spastic tetraparesis, Dystonia, Pulmonary arterial hypertension, Abnor... |
OMIM:616299 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... |
ORPHA:99027 |
Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Hyperactivity |
OMIM:248510 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Myoclonus, ... |
ORPHA:248111 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy |
OMIM:613886 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp... |
OMIM:618387 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... |
ORPHA:35878 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait, Low-set ears |
OMIM:618205 |
Sarcosinemia |
|
Optic atrophy, Pulmonic stenosis, Infantile sensorineural hearing impairment, Hypertrophic cardio... |
ORPHA:3129 |
Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Tremor... |
OMIM:614018 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Spastic tetraparesis, Hypertonia, Hyperactivity, Hemiparesis |
OMIM:604317 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Cerebral cortical atrophy, Babinski sign, Spastic dysarthria, Difficulty walkin... |
ORPHA:280763 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Cryptorc... |
OMIM:101800 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... |
ORPHA:276435 |
Neutral Lipid Storage Disease With Myopathy |
|
Sensorineural hearing impairment, Hepatomegaly, Cardiomyopathy |
OMIM:610717 |
Corticobasal Syndrome |
|
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... |
OMIM:270500 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Brachydactyly, Hyperphosphatemia, Obesity, Short metacarpal, Low urinary cyclic AMP... |
OMIM:603233 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral cortical atrophy, Hyperactivity, Brain atrophy, Abnormal pyramidal sign, Corpus callosum... |
ORPHA:369939 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Sensorineural hearing impairment, Protruding ear, Hyperactivity, Brain atrophy,... |
OMIM:618342 |
Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Hsd10 Mitochondrial Disease |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Abnormal mitochondrial morphology, O... |
OMIM:300438 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Timothy Syndrome |
|
Hypocalcemia, Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, P... |
OMIM:601005 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Abnormal amplitu... |
ORPHA:168491 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Hearing impairment, Cardiomyopathy, Myofiber disarray |
OMIM:301075 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Dystonia |
OMIM:616113 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder |
OMIM:613670 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Intermi... |
OMIM:608643 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Femoral bowing, Thin bony cortex, Difficulty walking, Bulging of the costochondral junction, Meta... |
OMIM:264700 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Recurrent fractures, Precocious puberty, Abnormal hip bone morphology, Abnormal penis morphology,... |
ORPHA:457059 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
Noonan Syndrome 11 |
|
Atrial septal defect, Pulmonic stenosis, Low-set ears, Hypertrophic cardiomyopathy, Posteriorly r... |
OMIM:618499 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Leg dystonia, Loss of ambulation, EEG abnormality, Decreased nerve conduction velocity, Congenita... |
ORPHA:565624 |
Adult Krabbe Disease |
|
Broad-based gait, Hemiplegia, Ataxia, Acroparesthesia, Clumsiness, EEG abnormality, Hoffmann sign... |
ORPHA:206448 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction, Cardiomyopathy |
OMIM:520000 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... |
ORPHA:98870 |
Deafness, Autosomal Dominant 36 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:606705 |
Deafness, Autosomal Dominant 43 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
Deafness, Autosomal Dominant 33 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
Deafness, Autosomal Dominant 64 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:616340 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Y-Linked 1 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Hypoglycemia, Hypothermia, Hyperglycinemia, Hypertaurinemia |
OMIM:245400 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, EEG abnormality, Hand apraxia, Pill-rolling tremor, Stereo... |
ORPHA:3095 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Prominent ear helix, Large earlobe, Myoclonus, Hypsarrhythmia, Multifocal epile... |
ORPHA:411986 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
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Ataxia, Dysmetria, Intention tremor, Babinski sign, Head titubation, Optic atrophy |
OMIM:618688 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Ataxia, Hyperinsulinemia, Hyperactivity, Insulin resistance, Myoclonus, Abnormal pyramidal sign, ... |
ORPHA:363400 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Inability to walk, Hyperactivity, EEG abnormality, Abnormality of extrapyramidal motor function, ... |
ORPHA:500180 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Macrotia, Hearing impairment |
OMIM:619877 |
Epilepsy, Progressive Myoclonic, 1B |
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Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Methy... |
OMIM:277410 |
D-Glyceric Aciduria |
|
Sensorineural hearing impairment, Failure to thrive, Gastroesophageal reflux, Aminoaciduria, Opis... |
OMIM:220120 |
Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Abnormal head movements, Macrotia |
OMIM:300624 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elevated circulating creat... |
ORPHA:340 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Action tremor, Cerebral atrophy, Facial palsy, Optic atrophy, Cerebellar atrophy, Hearing impairm... |
ORPHA:254886 |
Familial Isolated Dilated Cardiomyopathy |
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Sensorineural hearing impairment, Dilated cardiomyopathy |
ORPHA:154 |
Spinocerebellar Ataxia Type 36 |
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Ataxia, Limb ataxia, Dysmetria, Hand tremor, Intention tremor, Babinski sign, Truncal ataxia, Hea... |
ORPHA:276198 |
Nystagmus, Hereditary Vertical |
|
Ataxia, Abnormal vestibulo-ocular reflex |
OMIM:164150 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Failure to thrive, Hypophosphatemia, Delayed epiphyseal ossification, Sparse... |
OMIM:600081 |
3-Methylglutaconic Aciduria Type 4 |
|
Hearing impairment, Cardiomyopathy |
ORPHA:67048 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, ... |
OMIM:619317 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Ileus, Hepatomegaly, Flexion contracture, Splenomegaly, Osteopenia, Elevated c... |
OMIM:613327 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Recurrent hand flapping, Cerebral atrophy, Macrotia |
OMIM:617268 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Femoral bowing, Thin bony cortex, Difficulty walking, Bulging of the costochondral junction, Rena... |
OMIM:241530 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia, Irritability |
OMIM:239350 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Motor tics |
OMIM:619927 |
Parkinsonism-Dystonia 2, Infantile-Onset |
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Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Temperature ... |
OMIM:618049 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Irritability, Resting tr... |
ORPHA:3077 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Um... |
ORPHA:95717 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Hypertonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Parkinsonism, Att... |
OMIM:617384 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Frontotemporal cerebral atrophy, EEG with continuous slow activity, Fasciculati... |
ORPHA:275864 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Malabsorption, Hypoproteinemia, Increased proport... |
ORPHA:398063 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Elevated circulating creatine kinase concentration, Limb fasciculations, Tremo... |
ORPHA:90117 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Macrotia, Anteverte... |
ORPHA:544254 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Sensorineural hearing impairment, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Car... |
OMIM:617713 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Hypertonia, Hyperactivity, Tetraplegia |
OMIM:274270 |
Vitamin D-Dependent Rickets, Type 2A |
|
Failure to thrive, Recurrent fractures, Hypophosphatemia, Delayed epiphyseal ossification, Irrita... |
OMIM:277440 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Difficulty walking, Gait ataxia, Spas... |
OMIM:617807 |
Christianson Syndrome |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Truncal ata... |
ORPHA:85278 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine |
ORPHA:94086 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Hyperactivity, Premature ovarian insufficiency, Macrotia |
ORPHA:391307 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Depression, Arrhythmia, Progressive hearing impairment, Parkinsonism, Gait disturbance, Hypogonad... |
OMIM:609286 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Osteopenia, Abn... |
ORPHA:231222 |
Cystinosis |
|
Renal tubular dysfunction, Motor stereotypy, Failure to thrive, Hypophosphatemia, Hypokalemia, Am... |
ORPHA:213 |
Calciphylaxis |
|
Ectopic ossification, Cellulitis, Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, Myoclonus, Falls, EEG with focal sharp slow waves |
ORPHA:2382 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... |
OMIM:619405 |
Menkes Disease |
|
Hypothermia, Babinski sign, Decreased circulating ceruloplasmin concentration, Hypertonia |
OMIM:309400 |
Distal Monosomy 10Q |
|
Facial diplegia, Protruding ear, Cochlear malformation, Congenital sensorineural hearing impairme... |
ORPHA:96148 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, High palate, Protruding ear, Cryptorchidism, Optic nerve hypop... |
ORPHA:261250 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... |
ORPHA:97214 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Eye poking, Optic disc drusen |
OMIM:204000 |
Infantile Refsum Disease |
|
Sensorineural hearing impairment, Hepatomegaly, Facial palsy, Arrhythmia, Optic atrophy, Hearing ... |
ORPHA:772 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy, Cerebral atrophy |
OMIM:618855 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Dysphagia, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... |
ORPHA:423 |
Pick Disease Of Brain |
|
Motor stereotypy, Neuronal loss in central nervous system |
OMIM:172700 |
3-Methylglutaconic Aciduria Type 1 |
|
Spastic tetraparesis, Hypoglycemia, Progressive cerebellar ataxia, Dystonia |
ORPHA:67046 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Hyperammonemia, Elevated creatine ... |
ORPHA:159 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity |
OMIM:210000 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Ventricular septal defect, Hearing impairment, Hypertrophic cardiomyopathy, Dystonia |
ORPHA:255241 |
Peroxisome Biogenesis Disorder 9B |
|
Sensorineural hearing impairment, Cardiomyopathy |
OMIM:614879 |
Myopathy, Myofibrillar, 1 |
|