Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Abnormality of the hand, Trem... |
OMIM:160120 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Deafness, Autosomal Dominant 11 |
|
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment |
OMIM:601317 |
Deafness, Autosomal Recessive 2 |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment |
OMIM:600060 |
Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
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 Recessive 94 |
|
Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:618434 |
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 |
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 |
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 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment |
OMIM:600965 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
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 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Deafness, Autosomal Dominant 4B |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:614614 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619491 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
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 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Deafness, Autosomal Recessive 37 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:607821 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Small hand, Inappropriate laughter... |
OMIM:616269 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... |
ORPHA:216873 |
Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... |
OMIM:128235 |
Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Hammertoe, Fasciculations, Difficulty... |
OMIM:615048 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... |
ORPHA:401901 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Sandhoff Disease, Adult Form |
|
Dystonia, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia... |
ORPHA:309169 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth, Abnormal hair morphology |
OMIM:190320 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Sensorineural hearing impairment |
OMIM:208750 |
Nathalie Syndrome |
|
Arrhythmia, Sensorineural hearing impairment |
ORPHA:2663 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials |
ORPHA:101007 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Chvostek sign, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnorm... |
ORPHA:1094 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Head tremor, Self-biting |
OMIM:619988 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... |
ORPHA:210571 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... |
ORPHA:79445 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia, Palmoplantar hyperkeratosis |
OMIM:309560 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra... |
OMIM:213600 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... |
ORPHA:276435 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling... |
ORPHA:306692 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Furrowed tongue |
OMIM:155900 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiom... |
OMIM:605362 |
Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism... |
OMIM:616710 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly |
OMIM:603233 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t... |
ORPHA:1515 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bra... |
ORPHA:521406 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... |
ORPHA:3352 |
Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, ... |
ORPHA:71517 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Autoimmune Hypoparathyroidism |
|
Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany,... |
ORPHA:36913 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar... |
OMIM:615924 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga |
OMIM:620270 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dy... |
OMIM:261630 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... |
OMIM:302500 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany, Laryngeal dys... |
ORPHA:94090 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... |
ORPHA:101109 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... |
OMIM:618093 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Hemiatrophy, Difficulty wa... |
ORPHA:306669 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Small hand, Bruxism, Abnormal pyramidal sign, Bradykinesia, Shor... |
OMIM:617435 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme... |
OMIM:618387 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Difficulty walking |
OMIM:619565 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... |
OMIM:615362 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity, Oral mucosal blisters |
OMIM:169610 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... |
ORPHA:157941 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... |
ORPHA:454887 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Hyperkalemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia |
OMIM:154276 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia |
OMIM:605909 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Elbow flexion... |
OMIM:619470 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... |
ORPHA:240085 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di... |
ORPHA:98764 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... |
OMIM:606159 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... |
OMIM:619028 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain... |
OMIM:617916 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Short metatarsal, Depression, Short 4th met... |
ORPHA:79444 |
Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Choreoathetosis, Hypocalcemia, Hypocalcemic tetany, Broad distal phalanx of the... |
ORPHA:79443 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Depres... |
ORPHA:94089 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... |
OMIM:615528 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Hand muscle weakness, Tremor, Inability to walk, Intrinsic hand muscle atrophy, Hip dysplasia, Di... |
ORPHA:101077 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremo... |
ORPHA:240103 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin... |
ORPHA:3095 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Tongue atrophy |
OMIM:613435 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Short palm, Broad-based gait, Ataxia, Tremor, Small hand, Dysmetria, Gait ataxia, Short foot, Dys... |
OMIM:610185 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,... |
OMIM:129400 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... |
ORPHA:210128 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic mo... |
OMIM:233910 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... |
OMIM:619073 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Hypocalcemic teta... |
OMIM:103580 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... |
ORPHA:66624 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Brachyd... |
OMIM:612462 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype... |
OMIM:619738 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Areflexia of upper limbs, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action... |
OMIM:616291 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Split hand, Hammertoe, Steppage gait, Gait... |
OMIM:118300 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Elevated circulating creatine kinase concentration,... |
OMIM:617013 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Brittle hair, Micrognathia, Clinodactyly of the 5th finger, Sparse hair, F... |
ORPHA:2710 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Syncope... |
OMIM:220400 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Distal upper limb amyotrophy, Ataxia, Gait disturbance |
ORPHA:101075 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa... |
OMIM:614307 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elevated creatine kinase, Hyperphos... |
ORPHA:99845 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia, Reduced haptoglobin level |
OMIM:612126 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Irritab... |
OMIM:261640 |
Filippi Syndrome |
|
Single transverse palmar crease, 2-4 toe syndactyly, Optic atrophy, Hypertrichosis, Cutaneous syn... |
OMIM:272440 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... |
OMIM:617225 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... |
OMIM:616795 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Depression, Bradykinesia, Irritability, Dystonia, Action tremor |
OMIM:606438 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam... |
OMIM:619279 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Spasticity, Opisthotonus, Tip-toe gait, Gait disturbance, A... |
ORPHA:216866 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Gait ... |
OMIM:615157 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity |
OMIM:300983 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Camptodactyly of ... |
ORPHA:3220 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Hammertoe, Steppage gait, Hypertonia, Spasticity |
OMIM:609260 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy |
ORPHA:85297 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic seizures |
OMIM:241410 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ... |
ORPHA:94093 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... |
ORPHA:2751 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability, ... |
ORPHA:428 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Small hand, ... |
OMIM:300055 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait |
OMIM:600363 |
Manganese Poisoning |
|
Dystonia, Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Depression, Bradykinesi... |
ORPHA:306682 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... |
ORPHA:353253 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail ... |
OMIM:226650 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch... |
OMIM:605282 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Hand muscle weakness, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor,... |
OMIM:302800 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Myoclonus, Difficulty wal... |
ORPHA:2590 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Abnormal... |
ORPHA:208441 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity |
OMIM:213200 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Myoclonus, Tongue fascicul... |
OMIM:159950 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... |
OMIM:613280 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Calcaneovalgus deformity, Slu... |
ORPHA:93952 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... |
OMIM:101800 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... |
ORPHA:52368 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Jaundice, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly |
OMIM:614876 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation |
OMIM:615010 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Clinodactyly, Abn... |
OMIM:619092 |
Oculodentodigital Dysplasia |
|
Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Sparse hair... |
OMIM:164200 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation... |
ORPHA:90117 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... |
OMIM:264700 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo... |
ORPHA:139485 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Enlargement of the wrists... |
OMIM:600081 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My... |
ORPHA:254881 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Finger syndactyly, Abnormal dental morphology, Selective tooth... |
ORPHA:1897 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Large hands, Taurodont... |
OMIM:157980 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... |
ORPHA:231169 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia, Metacarpal periosteal thickening |
OMIM:617994 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk... |
OMIM:137440 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesi... |
OMIM:607483 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Toe syndactyly, Delayed eruption of primary te... |
ORPHA:819 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... |
OMIM:618718 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101078 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... |
OMIM:302350 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... |
ORPHA:79263 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Elevated circulating c... |
OMIM:614298 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talo... |
OMIM:613684 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern... |
OMIM:619787 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... |
OMIM:210000 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... |
OMIM:265900 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Coxa valga, ... |
ORPHA:96263 |
Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Abnormality of the upper limb, Fasciculations |
ORPHA:65684 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Saccharopinuria |
|
Tremor, Hypercystinemia, Spastic diplegia, Hyperammonemia, Gait ataxia, Abnormality of circulatin... |
ORPHA:3124 |
Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Cutaneous finger syndactyly, Taurodontia, Broad phalanx of the toes, Broad... |
OMIM:614378 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Gait ... |
ORPHA:225147 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... |
ORPHA:391417 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu... |
OMIM:612347 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue |
ORPHA:2743 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... |
OMIM:606324 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... |
ORPHA:1215 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... |
OMIM:277440 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... |
ORPHA:206443 |
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 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Inappropriate behavior, Disin... |
OMIM:168605 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Coxa valga, ... |
ORPHA:96264 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Depression,... |
OMIM:300623 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Short humerus, Bowing of the long bones, Hydroxyprolinemia, Lateral femoral bowing, Hyperphosphat... |
OMIM:239000 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Bowing of the legs, Abnormal circulating calcium concentration, Delayed epiphy... |
OMIM:241530 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal hair morphology, Oligodontia,... |
OMIM:604625 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotional lability, Spasticity |
ORPHA:542310 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Limb myoclonus, Dysmetria, Dysphagia, Limb ataxia, Hand tremor, Tongue fas... |
ORPHA:276198 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... |
OMIM:307800 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia |
ORPHA:330050 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Sanjad-Sakati Syndrome |
|
Short foot, Hyperphosphatemia, Small hand, Hypocalcemia |
ORPHA:2323 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dystonia, Ataxia, Postural tremor, Elevated circulating creatine kinase concentration, Elevated c... |
ORPHA:64753 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Large ... |
ORPHA:2563 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Exudative retinal detachment, Facial palsy, Retinal telangiectasia |
OMIM:158900 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Scarring alopecia of scalp, Motheaten muscle fibers, Palmoplantar hyperkeratosis, ... |
OMIM:226670 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy, Anti-acetylcholine receptor antibody positivity |
OMIM:254300 |
Cerebellofaciodental Syndrome |
|
Single transverse palmar crease, Tapered finger, Sparse eyebrow, Dental malocclusion, Shortening ... |
OMIM:616202 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, Taurodontia, High palate, Widely spaced teeth |
OMIM:618205 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... |
ORPHA:100084 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Talipes equinovarus, Spasticity, Frequent falls |
OMIM:616719 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... |
ORPHA:227510 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dysphagia, Sh... |
OMIM:168600 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Spinal muscular atrophy, Highly arched eyebro... |
ORPHA:166108 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... |
ORPHA:36387 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Dysphagia, Clinodactyly of the 5th finger, Se... |
OMIM:619422 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Paresis of extensor muscles of the big toe, Torticollis, Ataxia, Parkinsonism, Generalized dyston... |
ORPHA:98808 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Postaxial polydactyly, Abnormal eating behavior, Tremor, Poor coordination, Gait disturba... |
ORPHA:544254 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shu... |
OMIM:168601 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hip contracture, Bowing of the long bones, Hypercalcemia, Metaphyseal chondrodyspl... |
OMIM:156400 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ... |
OMIM:208920 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... |
ORPHA:157846 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... |
ORPHA:251393 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Flexion contracture, Cutaneous ... |
OMIM:203550 |
Trisomy X |
|
Tremor, Depression, Hip dysplasia, Attention deficit hyperactivity disorder, Clinodactyly of the ... |
ORPHA:3375 |
Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinski sign, Dysmetria, Gait ataxia... |
OMIM:609270 |
Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Ga... |
ORPHA:75567 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:605594 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti... |
ORPHA:3214 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa... |
OMIM:300894 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Gait disturbance, Hypocalcemia, Abnormal hip bone morphology, Hypophosph... |
ORPHA:93160 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Short mandibular... |
OMIM:141300 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Spasticity |
OMIM:304700 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Areflexia of upper limbs, Tremor, Intrinsic hand muscle atrophy, Impaired tandem gait, Polyminimy... |
OMIM:619574 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Coarse... |
ORPHA:1896 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Dysmetria, Impaired tandem gait, Gait ataxia, Limb ataxia, ... |
OMIM:117360 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... |
OMIM:183090 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, ... |
ORPHA:683 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphyseal ossificati... |
ORPHA:289157 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... |
OMIM:192445 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Gait disturbance |
ORPHA:99014 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Single transverse palmar crease, Micrognathia, Sparse eyebrow, Tapered fi... |
ORPHA:444072 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Abno... |
OMIM:127000 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Cystinosis |
|
Abnormal pyramidal sign, Hypokalemia, Gait disturbance, Hypophosphatemia, Polydipsia, Abnormal re... |
ORPHA:213 |
Jalili Syndrome |
|
Abnormality of dental color, Optic atrophy, Abnormal dental enamel morphology, Amelogenesis imper... |
ORPHA:1873 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Optic atrophy, Spinocerebellar atrophy, Cochlear degeneration, Heari... |
ORPHA:95433 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Loss of ambulatio... |
OMIM:607694 |
Cystathioninuria |
|
Tremor, Talipes equinovarus, Cystathioninemia |
ORPHA:212 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo... |
OMIM:614867 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Abno... |
ORPHA:352540 |
Deafness And Myopia |
|
Sensorineural hearing impairment |
OMIM:221200 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... |
ORPHA:280219 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Facial palsy, Micrognathia, Carious teeth, Trismus, Tapered finger, Adducted thumb, E... |
OMIM:272430 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentratio... |
ORPHA:157215 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Arrhythmia, Furrowed tongue |
ORPHA:2928 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Single transverse palmar crease, Tremor, Depression, Hip dysplasia, Hyperkinetic movements, Gait ... |
ORPHA:457240 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Everted upper lip vermilion, Brittle hair, Absent nipple, Abnormal oral mucosa mo... |
OMIM:305100 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal ... |
ORPHA:363400 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... |
OMIM:312080 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of ... |
ORPHA:289494 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal... |
ORPHA:765 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Clumsiness, Poor fine motor... |
ORPHA:137898 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tapered finger, Tremor, Babinski sign, Dysmetria, Gait ataxia, Steppage gait, Hypertonia,... |
OMIM:616505 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal dental morphology, Premature loss of primary teeth, Abnormal hair morphology, ... |
ORPHA:248 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Parkinsonism, Tremor, Intrinsic hand muscle atrophy, Depression, Fasciculations... |
ORPHA:329478 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Abnormal femoral head morphology, Abnormal primary molar morpholo... |
ORPHA:1830 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Neuronal Intranuclear Inclusion Disease |
|
Tremor, Rigidity, Ataxia, Gait disturbance |
OMIM:603472 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Clonus, Elevated circulating creatine ... |
OMIM:615673 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:313200 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, H... |
ORPHA:93325 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Hypophosphatemia |
ORPHA:2611 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, Babinski sign, Spastic paraplegi... |
ORPHA:83629 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Hyperalaninemia, Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic... |
OMIM:312170 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Bowing of the legs |
OMIM:146350 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder |
OMIM:619556 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Parkinsonism, Akinesia, I... |
ORPHA:48818 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology, Syncope |
ORPHA:97230 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:619473 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Retinopathy |
OMIM:617562 |
Cohen Syndrome |
|
Short metacarpal, Facial hypotonia, Single transverse palmar crease, Micrognathia, Hypoplasia of ... |
OMIM:216550 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... |
OMIM:619260 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Enlargement of the wrists... |
OMIM:300554 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Brachydactyly, Single transverse palmar crease, Notched primary central inciso... |
OMIM:620062 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Alopecia, Ulnar deviation of the hand, Limb joint contracture, Carious t... |
OMIM:612079 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Tremor, Hip dislocation, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdi... |
OMIM:614381 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Sandal gap, Aggressive behavior, Tremor, Small hand, Gait ataxia, Short foot, Emot... |
OMIM:300354 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Depression, Hyperkinetic movements, Gait disturbance, Spasticity, Hip subluxation |
OMIM:300957 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis |
OMIM:615328 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Abnormal posturing, Coarctation of aorta |
OMIM:614857 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Hypoplasia of the maxilla, C... |
ORPHA:1775 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr... |
ORPHA:1578 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Aggressive behavior, Tremor, Self-injurious behavior, Dysphagia, Spasticity, Br... |
OMIM:300978 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad palm, Genu val... |
OMIM:300602 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Depression |
ORPHA:178509 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... |
ORPHA:98768 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
Septopreoptic Holoprosencephaly |
|
Short attention span, Abnormal midbrain morphology, Hypoplasia of the pons, Perisylvian polymicro... |
ORPHA:280195 |
Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia |
OMIM:277720 |
Parkinson Disease 21 |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism |
OMIM:616361 |
Trichorhinophalangeal Syndrome, Type I |
|
Micrognathia, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proximal phalanges of... |
OMIM:190350 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla... |
OMIM:619719 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Depression, Bradykinesia... |
ORPHA:411602 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Cra... |
OMIM:259710 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Dehydration, Per... |
ORPHA:534 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Cone/cone-rod dystrophy |
OMIM:617767 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Hypercalcemia, Abnormality of the hand, Aggressive behavior, Unilateral radial aplasi... |
ORPHA:476126 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Retinopathy |
OMIM:614970 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attention deficit hyperactiv... |
ORPHA:79254 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Genu valgum |
OMIM:618913 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Choreoathetosis, Steppage gait, Gait disturbance, Limited elbow flexion, Difficulty walki... |
ORPHA:206594 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fingernails, Anodon... |
ORPHA:3253 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Hypoglossia With Situs Inversus |
|
Asplenia, High palate, Hypodontia, Polysplenia, Narrow mouth, Microglossia |
OMIM:612776 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emoti... |
ORPHA:1942 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Gait imbalance... |
ORPHA:2828 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficul... |
ORPHA:199343 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:619790 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Congestive heart failure, Dental malocclusion, Pigmentary retinopa... |
OMIM:253250 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe... |
OMIM:617710 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Single transverse palmar crease, Narrow mouth, Cleft palate, Thin vermilion border, Long eyelashe... |
OMIM:615502 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, Glossoptosis... |
ORPHA:3201 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Sparse eyelashes, Fifth finger distal phalanx clinoda... |
OMIM:257850 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Dysphagia, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Coarse hair, Joint contract... |
ORPHA:1883 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... |
OMIM:617675 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint contracture o... |
ORPHA:69087 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic anemia, Iron defi... |
ORPHA:54028 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Bowing of the legs |
ORPHA:89937 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Branchiootic Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... |
ORPHA:52429 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Facial palsy, Carious teeth, Absent eyelashes, Preaxial hand polydactyl... |
ORPHA:2316 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Lobulated tongue, Intrahepatic biliary atresia, Cleft palate |
OMIM:614815 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Retinal dystrophy |
OMIM:614465 |
Unilateral Polymicrogyria |
|
Epistaxis, Involuntary movements, Pulmonary arteriovenous malformation, Spastic tetraplegia, Hemi... |
ORPHA:268943 |
Jalili Syndrome |
|
Carious teeth, Optic disc pallor, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ... |
OMIM:258480 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism |
OMIM:614251 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Agitation |
ORPHA:276608 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Antalgic gait, Abnormal pelvis bone ... |
ORPHA:249 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Retinopathy, Retinal dystrophy |
OMIM:614464 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation |
ORPHA:340 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum |
OMIM:613443 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Optic atrophy, Narrow palate, Mitral regurgita... |
ORPHA:313892 |
Dent Disease 1 |
|
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Enlargement of the wrists... |
OMIM:300009 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology |
OMIM:611890 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Abnormal EKG, Protruding tongue, Hydrocephalus, Optic atro... |
ORPHA:93400 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Cheilitis, Furrowed tongue, Macroglossia, Abnormal autonomic nervous system physiology |
ORPHA:2483 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Hypogeusia, Furrowed tongue, Ham... |
ORPHA:2930 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprot... |
OMIM:606002 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Retinal dystrophy, Tongue fasciculations |
OMIM:614678 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Aggressive ... |
ORPHA:85293 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegal... |
ORPHA:100026 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... |
ORPHA:98794 |
Cherubism |
|
Jaw swelling, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Ol... |
OMIM:118400 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Carious teeth, Yellow nails, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse... |
OMIM:614564 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short p... |
OMIM:235510 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Optic dis... |
OMIM:174300 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth |
OMIM:613604 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Irritability, Decreased serum zinc, Emotional lability, Lethargy |
OMIM:201100 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Agenesis of molar, Supernumerary tooth, Diastema |
OMIM:619718 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia, Polydipsia, Metaphyseal irregularity |
OMIM:239200 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... |
ORPHA:100924 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:606943 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Single transverse palmar crease, Elevated circulating creatine kinase concentration, Hypophosphat... |
OMIM:619743 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Decreased nerve conduction velocity, Glossoptosis, Cleft palate |
OMIM:618356 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... |
OMIM:617988 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Autoimmunity, Malabsorption, Thrombocytopenia, Hepatitis, ... |
ORPHA:47 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C... |
OMIM:620107 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Icf Syndrome |
|
Communicating hydrocephalus, Abnormality of neutrophils, Malabsorption, Protruding tongue, Macrog... |
ORPHA:2268 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Hydrocephalus, Cleft palate, Microglossia |
OMIM:241800 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Joubert Syndrome 6 |
|
Hypoplasia of the brainstem, Chorioretinal coloboma, Molar tooth sign on MRI, Elongated superior ... |
OMIM:610688 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... |
ORPHA:137888 |
Amish Nemaline Myopathy |
|
Tremor, Hip contracture, Shoulder flexion contracture |
ORPHA:98902 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Tapered finger, Aggressive behavior, Tremor, Attention... |
OMIM:619680 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Optic disc coloboma, Aglossia |
OMIM:241310 |
Sandifer Syndrome |
|
Hematemesis, Abnormal posturing, Torticollis |
ORPHA:71272 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati... |
OMIM:615356 |
Odontomicronychial Dysplasia |
|
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu... |
ORPHA:1811 |
Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... |
OMIM:601104 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Facial palsy, Pierre-Robin sequence, Cleft palate, Glossoptosis... |
ORPHA:1358 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Psoriasis 14, Pustular |
|
Neutrophilia, Cholangitis, Leukocytosis, Furrowed tongue, Geographic tongue |
OMIM:614204 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Sacroiliac joint syno... |
ORPHA:89936 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Abnormal blood inorganic cation concentration, Rigidity, Bradykinesia, Poor fine motor ... |
ORPHA:309854 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia, Heart murmur |
OMIM:606744 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Narrow mouth, Microglossia, Holoprosencephaly, Abnormal cranial nerve morphology |
ORPHA:990 |
Trisomy 8Q |
|
Myelomeningocele, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum mo... |
ORPHA:1752 |
Agnathia-Otocephaly Complex |
|
Aglossia, Cleft palate, Holoprosencephaly, Narrow mouth, Microglossia |
OMIM:202650 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Portal hypertension, Short-segment ag... |
OMIM:609136 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Glossitis, Thrombocytopenia |
ORPHA:90045 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border,... |
OMIM:612938 |
Developmental And Epileptic Encephalopathy 4 |
|
Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia |
OMIM:612164 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia |
ORPHA:3240 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... |
OMIM:602400 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Single transverse palmar crease, Aggressive behavior, Tremor, Hypertonia, Clinodactyly of the 5th... |
OMIM:608093 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression |
OMIM:600740 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Lowry-Maclean Syndrome |
|
Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of t... |
ORPHA:2409 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Hypoalbuminemia, Myoclonus, Dysphagia... |
OMIM:254900 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R... |
ORPHA:79102 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... |
ORPHA:206436 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Congenital hepatic fibrosis, Meningocele, Chorioretinal coloboma |
ORPHA:2031 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Depression |
ORPHA:79095 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Abnormal retinal morphology |
OMIM:614615 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Pancreatic cysts, Myelomen... |
OMIM:311200 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated... |
OMIM:252100 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis |
OMIM:613239 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Protruding tongue, Splenomegaly, Optic atrophy, Gingival overgrowth, Sea-blue histi... |
OMIM:230600 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Skeletal muscle atrophy, Carious teeth, Cranial nerve compression, Diaphys... |
OMIM:131300 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Dysphagia, Loss of... |
OMIM:607426 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... |
ORPHA:411634 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Dystonia, Ataxia, Hyperglutamatemia,... |
ORPHA:3008 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia, Hyperbilirubinemia |
ORPHA:713 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Protruding tongue, Congestive heart failure, Mitral regu... |
ORPHA:324410 |
Tetanus |
|
Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, Hypertonia, D... |
ORPHA:3299 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Hand muscle weakness, Areflexia of upper limbs, Inabilit... |
ORPHA:99956 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Protruding tongue, Optic atrophy, Gingival overgrowth, Hepatosplenomegaly, Cherry r... |
ORPHA:93399 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph... |
OMIM:154780 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Macrodontia, Aplasia/Hypoplasia of ... |
ORPHA:193 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis |
OMIM:617186 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Exaggerat... |
OMIM:620114 |
Wolfram Syndrome 1 |
|
Tremor, Ataxia, Limited mobility of proximal interphalangeal joint, Dysphagia |
OMIM:222300 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Facial hypoto... |
ORPHA:438216 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... |
ORPHA:512 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations, Intrinsic hand muscle atrophy, Hand muscle weakness |
ORPHA:99965 |
Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... |
ORPHA:2203 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in upper limbs, Flexion contracture of finger, Hand muscle weakness, Tre... |
ORPHA:466768 |
Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Abnormality of primary teeth, Agenesis o... |
OMIM:257980 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Glo... |
OMIM:175500 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Cherry ... |
ORPHA:2752 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Hereditary Fructose Intolerance |
|
Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Fanconi-Bickel Syndrome |
|
Bowing of the long bones, Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase, Dysphagia |
ORPHA:397744 |
Raine Syndrome |
|
Bowing of the long bones, Micromelia, Hypophosphatemia, Neonatal death, Long hallux, Brachydactyly |
OMIM:259775 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Tremor, ... |
ORPHA:2131 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... |
ORPHA:206448 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dy... |
ORPHA:25 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Ataxia, Tremor, Central Y-shaped metacarpal, Preaxial polydact... |
ORPHA:2754 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Absent eyelashes, Short thumb, Partial duplication of thumb phalanx, Xerostomia, W... |
OMIM:620193 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Joubert Syndrome |
|
Ataxia, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyly, Oculomotor apraxia |
ORPHA:475 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Smooth philtrum, Macular coloboma, Megaloblastic anemia, Pulmonary embolism, Thrombocytopenia, Hy... |
ORPHA:79282 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Tra... |
OMIM:277380 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Reduced number of intrahepatic b... |
ORPHA:79284 |
Tarp Syndrome |
|
Optic atrophy, Subdural hemorrhage, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepa... |
OMIM:311900 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Hallux valgus, Dystonia, Sandal gap, Tremor, Long fingers, Tip-toe gait, Finger jo... |
OMIM:617557 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ... |
ORPHA:989 |
Faciocardiomelic Dysplasia, Lethal |
|
Microglossia, Narrow mouth |
OMIM:227270 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:1790 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608779 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Protruding tongue, Macroglossia, T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Hypertension, Macrotia, Abnormality of periph... |
ORPHA:90321 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low frustration tolerance, Comp... |
ORPHA:646 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Tremor, Abnormal epiphysis morphology, Hypocalcemia, Hypophosphatemia, ... |
ORPHA:667 |
Holzgreve Syndrome |
|
Abnormal mesentery morphology, Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
Developmental And Epileptic Encephalopathy 80 |
|
Optic disc pallor, Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long p... |
OMIM:618580 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Thrombocytopenia, Pierre-Robin sequence, Giant platelets, Cleft palate,... |
OMIM:611209 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
Joubert Syndrome 1 |
|
Optic disc pallor, Retinal dystrophy, Protruding tongue, Optic disc coloboma, Occipital myelomeni... |
OMIM:213300 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Optic atrophy, Cerebral ischemia, Arrh... |
ORPHA:397 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
Gracile Bone Dysplasia |
|
Asplenia, Hydrocephalus, Ankyloglossia, Hypoplastic spleen |
OMIM:602361 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Falls,... |
ORPHA:447753 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal hair quantity, Abnormal oral mucosa morphology, Micromelia, A... |
ORPHA:289 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Marshall-Smith Syndrome |
|
Open mouth, Optic atrophy, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
Serotonin Syndrome |
|
Restlessness, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Agitation, Myoclonus |
ORPHA:43116 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Gai... |
ORPHA:254892 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Facial palsy, Tongue fasciculations, Cranial nerve motor loss |
OMIM:211530 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Absent retinal pigment epithelium, Chorioretinal atrophy, X... |
ORPHA:1051 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, Facial palsy, Cleft palate, Abnormality of the sense of smell, ... |
ORPHA:570 |
Agel Amyloidosis |
|
Tongue atrophy, Facial palsy, Xerostomia, Cardiomyopathy, Abnormal spleen morphology, Arrhythmia,... |
ORPHA:85448 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Lelis Syndrome |
|
Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Cleft palate, Retinal coloboma, Thick anterior alveolar ridges, Hydr... |
ORPHA:2839 |
Cystinosis, Nephropathic |
|
Hyponatremia, Oral-pharyngeal dysphagia, Hypomagnesemia, Metaphyseal widening, Reduced blood urea... |
OMIM:219800 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Cleft palate, Glossoptosis, Degenerative vitreoretinopathy, Bifid uvula |
ORPHA:1427 |
Tyrosinemia Type 2 |
|
Tremor, Palmoplantar keratoderma, Ataxia |
ORPHA:28378 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Cowden Syndrome 5 |
|
Colonic diverticula, Angioid streaks of the fundus, Furrowed tongue, Hamartomatous polyposis, Hig... |
OMIM:615108 |
Mercury Poisoning |
|
Tremor, Hypokalemia, Anorexia, Dystonia |
ORPHA:330021 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Erythematous oral mucosa, Furrowed tongue, Melena, Corneal neovascularization |
OMIM:158310 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormal sacroiliac joint morphology, Enlargement of the wrists, Coxa var... |
ORPHA:289176 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, Self-injurious ... |
ORPHA:58 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia |
ORPHA:1307 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Congestive heart failure, Leukocytosis, Cheilitis, Lymphopenia, Ge... |
ORPHA:247353 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the ton... |
ORPHA:564 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Renal hypophosphatemia, Elevated circulating creatine kina... |
ORPHA:1652 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Facial palsy |
OMIM:617114 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Mandibuloacral Dysplasia |
|
High palate, Abnormal tongue morphology, Dental crowding, Hypoplasia of teeth |
ORPHA:2457 |
Ataxia-Telangiectasia |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Slurred ... |
OMIM:208900 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Cowden Syndrome 6 |
|
Colonic diverticula, Angioid streaks of the fundus, Furrowed tongue, Hamartomatous polyposis, Hig... |
OMIM:615109 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Median cleft lip, Abnormal dental enamel morphology, Accessory ora... |
ORPHA:2750 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Tremor, Abnormal pyramidal sign, Genu va... |
OMIM:612199 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Pulmonic stenosis, Protruding tongue |
OMIM:614325 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Pearson Syndrome |
|
Ataxia, Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia |
ORPHA:699 |
Cowden Syndrome 1 |
|
Colonic diverticula, Angioid streaks of the fundus, Furrowed tongue, Hamartomatous polyposis, Hig... |
OMIM:158350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Cholelithiasis, Smooth philtrum |
OMIM:300534 |
Orofaciodigital Syndrome Vi |
|
Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Single transverse palmar crease, Tremor, Unsteady gait, Small hand, Abnor... |
OMIM:614947 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Frontorhiny |
|
Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Bifid tongue |
ORPHA:391474 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands, Lymphedema |
OMIM:300291 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... |
OMIM:216400 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hepatomegaly, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Splenom... |
OMIM:269860 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Carey-Fineman-Ziter Syndrome 1 |
|
Facial palsy, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Pulmonary arterial ... |
OMIM:254940 |
Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Micrognathia, Abnormality of hair texture, Synophrys, Dental malocclusion, Hypo... |
ORPHA:73223 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,... |
OMIM:212066 |
Vici Syndrome |
|
Cardiomyopathy, Abnormal posturing, Dilated cardiomyopathy, Congestive heart failure |
OMIM:242840 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Polyhydramnios, Micrognathia, Hypoplasia of the... |
OMIM:180849 |
Treacher-Collins Syndrome |
|
Encephalocele, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Op... |
ORPHA:861 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Hypophosphatemia |
ORPHA:562 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Tongue atrophy, Optic atrophy, Abnormal optic nerve mo... |
ORPHA:99949 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the... |
OMIM:616300 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver... |
OMIM:610253 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Ab... |
ORPHA:79139 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, Abnormality of the ... |
ORPHA:958 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Irritability, Hypertonia, Spa... |
OMIM:616539 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Dystonia, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, Broad finge... |
ORPHA:1934 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agene... |
OMIM:616894 |
Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, High palat... |
ORPHA:453499 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... |
ORPHA:464738 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranencephaly, Short h... |
ORPHA:1393 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Hydrocephalus, Pierre-Robin sequence, Cleft palate, Glossoptosis... |
ORPHA:90652 |
Doors Syndrome |
|
Short lingual frenulum, Polyhydramnios, Low anterior hairline, Abnormal finger morphology, Downtu... |
ORPHA:79500 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... |
OMIM:618874 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
Angelman Syndrome |
|
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue |
OMIM:105830 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower... |
ORPHA:96147 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Premature loss of primary teeth, Abnormality of the dentition, Open b... |
ORPHA:2907 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Exaggera... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Exaggera... |
ORPHA:352665 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Pierre-Robin sequence, Optic atrophy, Alveolar ridge overgrowth, Cl... |
ORPHA:2886 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open bite, Sup... |
ORPHA:1507 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Natal tooth, Retinitis, Hamartoma of tongue, Cleft lip, Supernumerary to... |
OMIM:615948 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
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High, narrow palate, Glossoptosis, Cleft palate |
ORPHA:436003 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal lower motor neuron morphology |
ORPHA:93941 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Protruding tongue, High, narrow... |
OMIM:214100 |
Fructose Intolerance, Hereditary |
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Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy |
OMIM:229600 |
Kawasaki Disease |
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Pericarditis, Congestive heart failure, Leukocytosis, Jaundice, Vasculitis, Hepatitis, Cheilitis,... |
ORPHA:2331 |
Ring Chromosome 22 Syndrome |
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Thick vermilion border, Protruding tongue |
ORPHA:1446 |
Au-Kline Syndrome |
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Lipomyelomeningocele, Dental malocclusion, Cleft palate, Downturned corners of mouth, Hypertensio... |
OMIM:616580 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:99880 |
Microcephaly 26, Primary, Autosomal Dominant |
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Long philtrum, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
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Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum |
OMIM:617804 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Protruding tongue, Diastema, Thick lower lip vermilion, Reduced alpha/beta synthesis ratio, Hypoc... |
OMIM:301040 |
Parathyroid Carcinoma |
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Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:143 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
Alport Syndrome 3A, Autosomal Dominant |
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Azotemia, Hypophosphatemia |
OMIM:104200 |
Marshall-Smith Syndrome |
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Eclabion, Irregular dentition, Optic nerve hypoplasia, Pyloric stenosis, Hydrocephalus, Gingival ... |
OMIM:602535 |
Leukocyte Adhesion Deficiency Type Ii |
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Hepatomegaly, Neutrophilia, Severe periodontitis, Protruding tongue, Microcytic anemia, Deep phil... |
ORPHA:99843 |
Hallermann-Streiff Syndrome |
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Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Congestive h... |
ORPHA:2108 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
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Thin upper lip vermilion, Dental crowding, Narrow palate, High palate, Thick vermilion border, Na... |
OMIM:616078 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Aortic valve stenosis, Low-set ears |
ORPHA:401973 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Facial palsy, Protruding tongue, Macroglossia, Cardiomyopathy, Reduced left ventricular ejection ... |
ORPHA:258 |
Slc35A2-Cdg |
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Increased circulating thyroglobulin level, Abnormal midbrain morphology, Atrophy/Degeneration aff... |
ORPHA:356961 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Angelman Syndrome |
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Optic disc pallor, Protruding tongue, Optic atrophy, Wide mouth, Widely spaced teeth |
ORPHA:72 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Median cleft lip, Retinal dystrophy, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibr... |
OMIM:263520 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxi... |
OMIM:182250 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Optic atrophy |
OMIM:617301 |
Smith-Lemli-Opitz Syndrome |
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Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste... |
ORPHA:818 |
Spondyloepiphyseal Dysplasia Congenita |
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Retinal detachment, Glossoptosis, Cleft palate |
ORPHA:94068 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dilated cardiomyopathy, A... |
ORPHA:89842 |
Pachyonychia Congenita 3 |
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Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Robinow Syndrome |
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Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... |
ORPHA:97360 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
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Microdontia, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Multiple Endocrine Neoplasia Type 2 |
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Aganglionic megacolon, Abnormal tongue morphology, Neoplasm of the liver, Thick vermilion border,... |
ORPHA:653 |
Ritscher-Schinzel Syndrome 2 |
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Intestinal malrotation, High palate, Short philtrum, Protruding tongue |
OMIM:300963 |
Sandhoff Disease |
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Cherry red spot of the macula, Exaggerated startle response |
OMIM:268800 |
Robinow Syndrome, Autosomal Dominant 1 |
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Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
Meckel Syndrome, Type 1 |
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Accessory spleen, Occipital encephalocele, Thin upper lip vermilion, Natal tooth, Intestinal malr... |
OMIM:249000 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Robinow Syndrome, Autosomal Recessive 1 |
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Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... |
OMIM:268310 |
Machado-Joseph Disease Type 3 |
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Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... |
ORPHA:276244 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response, Optic atrophy |
OMIM:617281 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response, Optic nerve hypoplasia, Hypoasparaginemia |
OMIM:615574 |
Familial Hypocalciuric Hypercalcemia |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Chand Syndrome |
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Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Stuve-Wiedemann Syndrome 1 |
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Pursed lips, Carious teeth, Thin vermilion border, Smooth tongue, Abnormal autonomic nervous syst... |
OMIM:601559 |
Enamel-Renal Syndrome |
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Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Glucagonoma |
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Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Acan... |
ORPHA:97280 |
Peters-Plus Syndrome |
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Short lingual frenulum, Single transverse palmar crease, Polyhydramnios, Micrognathia, Hypoplasia... |
OMIM:261540 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Cleft lip, Optic atrophy, Furrowed tongue, High palate, Broad alveolar ridges, Annular pancreas, ... |
OMIM:616975 |
Kinsship Syndrome |
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Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Downturned corners of m... |
OMIM:619297 |
1Q21.1 Microdeletion Syndrome |
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Hydrocephalus, Ankyloglossia, High palate, Long philtrum |
ORPHA:250989 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
Cerebrocostomandibular Syndrome |
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Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... |
OMIM:117650 |
Helsmoortel-Van Der Aa Syndrome |
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Thin upper lip vermilion, Facial palsy, Carious teeth, High, narrow palate, Thick lower lip vermi... |
OMIM:615873 |
Amoebiasis Due To Free-Living Amoebae |
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Myocardial necrosis, Abnormal medulla oblongata morphology, Facial palsy, Abnormal midbrain morph... |
ORPHA:68 |
Distal 22Q11.2 Microdeletion Syndrome |
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Aortic regurgitation, Thin upper lip vermilion, High, narrow palate, Pyloric stenosis, Cleft pala... |
ORPHA:261330 |
Cousin Syndrome |
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Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Hydranencephaly, Microglossia |
OMIM:260660 |
Autosomal Dominant Robinow Syndrome |
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Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum... |
ORPHA:3107 |
Gm1 Gangliosidosis Type 1 |
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Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Stickler Syndrome |
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Retinal detachment, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnormal vitre... |
ORPHA:828 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Optic atrophy |
OMIM:617527 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Protruding tongue |
OMIM:619580 |
Spastic Paraplegia 9A, Autosomal Dominant |
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Abnormal upper motor neuron morphology |
OMIM:601162 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Cleft palate, Downturned corners of mouth, Annular pancreas, Rod-cone dystrophy, Ankyloglossia |
ORPHA:488642 |
Pallister-Hall Syndrome |
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Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Holoprosencephaly, Microgloss... |
OMIM:146510 |
Smith-Lemli-Opitz Syndrome |
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Hepatomegaly, Aganglionic megacolon, Dental crowding, Intestinal malrotation, Pyloric stenosis, H... |
OMIM:270400 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... |
OMIM:619950 |
Microsporidiosis |
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Brain abscess, Cholangitis, Abnormality of the spleen, Peritonitis, Myocarditis, Biliary tract ab... |
ORPHA:2552 |
Orofaciodigital Syndrome Type 14 |
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Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... |
ORPHA:434179 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Enamel hypoplasia, Smooth tongue, Anemia, Oral mucosal blisters |
ORPHA:79396 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Thin upper lip vermilion, Natal tooth, Aplasia of the thymus, Facial palsy, Carious teeth, Optic ... |
OMIM:620186 |
Yunis-Varon Syndrome |
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Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Hydrocepha... |
ORPHA:3472 |
Opitz Gbbb Syndrome |
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Natal tooth, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, High palate, Hypod... |
ORPHA:2745 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Dental crowding, Polyhydramnios, Micrognathia, High palate, Syndactyly, Broad hallux, Highly arch... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Dental crowding, Polyhydramnios, Micrognathia, High palate, Syndactyly, Broad hallux, Highly arch... |
ORPHA:353277 |
Developmental And Epileptic Encephalopathy 100 |
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Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Microdontia, Ena... |
OMIM:619777 |
Distal Deletion 12Q |
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Median cleft lip, High, narrow palate, Supernumerary tooth, Esophageal atresia, Pyloric stenosis,... |
ORPHA:96149 |
Catel-Manzke Syndrome |
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Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... |
OMIM:616145 |
Hutchinson-Gilford Progeria Syndrome |
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Short lingual frenulum, Dental crowding, Myocardial infarction, Intracranial hemorrhage, High pal... |
ORPHA:740 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Elevated hepatic transaminase, Thin upper lip vermilion, Hepatic steatosis, Aortic regurgitation,... |
OMIM:619475 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Thin upper lip vermilion, Congestive heart failure, Downturned corners of mouth, Glossoptosis, Ma... |
ORPHA:444077 |
Degcags Syndrome |
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Leukopenia, Iron deficiency anemia, High palate, Hepatomegaly, Hiatus hernia, Congenital hypoplas... |
OMIM:619488 |
Cowden Syndrome |
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Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate, Mucosa... |
ORPHA:201 |
Distal Deletion 15Q |
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Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Mitral sten... |
ORPHA:1596 |
Lenz-Majewski Hyperostotic Dwarfism |
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Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Microglossia, Spina bifida oc... |
OMIM:151050 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Natal tooth, Dental crowding, Broad hallux, Carious teeth, Avascular necrosis of the capital femo... |
ORPHA:353281 |
Down Syndrome |
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Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Acute megakaryocytic leukemia, Macro... |
OMIM:190685 |
Duplication Of The Pituitary Gland |
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Congenital stationary night blindness, Encephalocele, Abnormal midbrain morphology |
ORPHA:314621 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th... |
OMIM:309580 |
Fontaine Progeroid Syndrome |
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Thin upper lip vermilion, Tricuspid regurgitation, Protruding tongue, High, narrow palate, Hydroc... |
OMIM:612289 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Communicating hydrocephalus, Thin upper lip vermilion, Septo-optic dysplasia, Epistaxis, Agenesis... |
OMIM:619841 |
Schinzel-Giedion Syndrome |
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Abnormality of the stapes, Aganglionic megacolon, Hypsarrhythmia, Abnormal cochlea morphology, La... |
ORPHA:798 |
Fraser Syndrome |
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Encephalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, Dental malocclu... |
ORPHA:2052 |
Achondrogenesis, Type Ia |
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Protruding tongue |
OMIM:200600 |
Okur-Chung Neurodevelopmental Syndrome |
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Thin upper lip vermilion, High palate, Protruding tongue |
OMIM:617062 |
Plague |
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Chapped lip, Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Enterocolitis, Inflammation of... |
ORPHA:707 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatoblastoma, Exaggerated median tongue furrow, Hepatomegaly, Gingival overgrowth, Cardiomyopat... |
OMIM:312870 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Dilated cardiomyopath... |
ORPHA:79408 |
Okamoto Syndrome |
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Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... |
ORPHA:2729 |
Blomstrand Lethal Chondrodysplasia |
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Natal tooth, Long philtrum, Protruding tongue |
ORPHA:50945 |
Norrie Disease |
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Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG... |
ORPHA:649 |
Stüve-Wiedemann Syndrome |
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Smooth tongue, Abnormal autonomic nervous system physiology, Abnormality of the dentition |
ORPHA:3206 |
Viss Syndrome |
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Retinal detachment, Chronic gastritis, Epidural hemorrhage, Duodenitis, Intestinal malrotation, C... |
OMIM:619472 |
Bilateral Perisylvian Polymicrogyria |
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Facial diplegia, Protruding tongue |
ORPHA:98889 |
Choreoacanthocytosis |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, A... |
ORPHA:2388 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short uvula, Submucous cleft ha... |
OMIM:619539 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Cleft upper lip, Esophageal atresia, Congenital hepatic fibrosis, Ectopic anus, Long philtrum, Bi... |
ORPHA:93271 |
Carney Complex |
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Neoplasm of the pancreas, Neoplasm of the stomach, Esophageal neoplasm, Congestive heart failure,... |
ORPHA:1359 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
Pallister-Hall Syndrome |
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Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Holoprosencephaly, Microglossia, B... |
ORPHA:672 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Abnormal midbrain morphology, Abnormal autonomic nervous system physiology |
ORPHA:293987 |
Microphthalmia, Syndromic 6 |
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Retinal dystrophy, Cleft palate, High palate, Microglossia, Bifid uvula |
OMIM:607932 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |