| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... |
OMIM:160120 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... |
OMIM:616515 |
| Deafness, Autosomal Dominant 11 |
|
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:601317 |
| Deafness, Autosomal Recessive 2 |
|
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600060 |
| Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
| Deafness, Autosomal Recessive 67 |
|
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... |
OMIM:610265 |
| Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
| Deafness, Autosomal Recessive 31 |
|
Absent vestibular function, Sensorineural hearing impairment |
OMIM:607084 |
| Deafness, Autosomal Recessive 89 |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:613916 |
| Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614944 |
| Deafness, Autosomal Recessive 18B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614945 |
| Deafness, Autosomal Recessive 94 |
|
Bilateral sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618434 |
| Deafness, Autosomal Dominant 40 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616357 |
| Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Recessive 117 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619174 |
| Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
| Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
| Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
| Deafness, Autosomal Dominant 66 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
| Deafness, Autosomal Recessive 113 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618410 |
| Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
| Deafness, Autosomal Recessive 99 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618481 |
| Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
| Deafness, Autosomal Dominant 53 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:609965 |
| Deafness, Autosomal Dominant 25 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:605583 |
| Auditory Neuropathy, Autosomal Dominant 2 |
|
Abnormal speech discrimination, Sensorineural hearing impairment |
OMIM:620384 |
| Deafness, Autosomal Recessive 15 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... |
OMIM:601869 |
| Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
| Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
| Deafness, X-Linked 4 |
|
High-frequency hearing impairment, Sensorineural hearing impairment |
OMIM:300066 |
| Deafness, Autosomal Recessive 13 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 29 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 20 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:604060 |
| Deafness, Autosomal Recessive 100 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618422 |
| Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
| Deafness, Autosomal Recessive 35 |
|
Abnormal ear morphology, Sensorineural hearing impairment |
OMIM:608565 |
| Deafness, Autosomal Dominant 76 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618787 |
| Deafness, Autosomal Recessive 57 |
|
Abnormal vestibular function, Hearing impairment, Sensorineural hearing impairment |
OMIM:618003 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Deafness, Autosomal Dominant 4B |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:614614 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Depression, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigi... |
OMIM:619491 |
| Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
| 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 |
|
Optic atrophy, Sensorineural hearing impairment |
OMIM:136600 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
| Deafness, Autosomal Dominant 75 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
| Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
| Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
| Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
| Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
| Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
| Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
| Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
| Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
| Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
| Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... |
OMIM:614561 |
| Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology, Sensorineural hearing impairment |
ORPHA:3465 |
| Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
| Deafness, Autosomal Recessive 37 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:607821 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Small hand, Inability to walk, Inappropriate laughter, Emotional lability, Tremor, Self-mutilatio... |
OMIM:616269 |
| Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Depression, Violent behavior, Chorea, Limb dystonia, Upper motor neuron dysfunction, ... |
ORPHA:216873 |
| Dystonia 12 |
|
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D... |
OMIM:128235 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Difficulty walking, Tremor, Elevated circulating creatine kinase concentration, H... |
OMIM:615048 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Up... |
ORPHA:401901 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... |
ORPHA:309169 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... |
OMIM:616053 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
| Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Hypoc... |
ORPHA:94090 |
| Dystonia 11, Myoclonic |
|
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... |
OMIM:159900 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
| Nathalie Syndrome |
|
Arrhythmia, Sensorineural hearing impairment |
ORPHA:2663 |
| Trichodentoosseous Syndrome |
|
Taurodontia, Abnormal hair morphology, Microdontia, Widely spaced teeth |
OMIM:190320 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment |
ORPHA:101007 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Sensorineural hearing impairment |
OMIM:208750 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Scis... |
OMIM:260300 |
| Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Carious teeth, Bilateral single transverse palmar creases, Clinodac... |
ORPHA:1094 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Irritability, Chvostek sign, Hypocalcemic seizures |
OMIM:146200 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Self-biting, Unsteady gait |
OMIM:619988 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Tooth Agenesis, Selective, 9 |
|
Taurodontia, Selective tooth agenesis, Microdontia |
OMIM:617275 |
| Dystonia 16 |
|
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... |
ORPHA:210571 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Otodental Syndrome |
|
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... |
ORPHA:2791 |
| Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Palmoplantar hyperkeratosis, Tremor |
OMIM:309560 |
| Deafness, Autosomal Recessive 121 |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:620551 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone... |
OMIM:618618 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Gait ataxia, Cogwheel ... |
OMIM:128230 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Depression, Athetosis, Bradykinesia, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Gait... |
OMIM:213600 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r... |
OMIM:620482 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Gait distu... |
ORPHA:314632 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Elbow flexion contracture, R... |
ORPHA:306692 |
| Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... |
OMIM:605407 |
| Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Congestive heart failure, Sensorineural hearing impairment, Abnormal left... |
OMIM:605362 |
| Parkinson Disease 22, Autosomal Dominant |
|
Depression, Resting tremor, Restless legs, Rigidity, Gait disturbance, Parkinsonism with favorabl... |
OMIM:616710 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Proximal muscle weakness in upper limbs, Fasciculations, Inability to walk... |
ORPHA:276435 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Cranioectodermal Dysplasia |
|
Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abno... |
ORPHA:1515 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia |
OMIM:276880 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Facial palsy |
OMIM:155900 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, ... |
ORPHA:521406 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Non-Syndromic Genetic Deafness |
|
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... |
ORPHA:87884 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation |
OMIM:141500 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Depression, Resting tremor, Gait ataxia, Limb dystonia, Emotional lability, Craniofacial dystonia... |
ORPHA:71517 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... |
ORPHA:3352 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Intention tremor, Abno... |
ORPHA:101110 |
| Pseudohypoparathyroidism Type 1B |
|
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Irritabilit... |
ORPHA:94089 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Autoimmune Hypoparathyroidism |
|
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Irritabilit... |
ORPHA:36913 |
| Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
| Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Hyper... |
OMIM:615924 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
| Dystonia 23 |
|
Head tremor, Limb dystonia, Axial dystonia, Myoclonus, Gait disturbance, Torticollis, Writer's cramp |
OMIM:614860 |
| Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... |
ORPHA:98762 |
| Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:261800 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Irritability, Hyperphenylalaninemia, Hypertonia, Dystonia, Dysphagia, Choreoat... |
OMIM:261630 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... |
OMIM:302500 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Spinocerebellar Ataxia 12 |
|
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokines... |
OMIM:604326 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... |
ORPHA:251282 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Limb dysmetria, Myoclonus, Tremor, Cogwheel rigidity, Gait disturbance, Truncal ataxia, Dy... |
ORPHA:363710 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Bilateral coxa valga, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Depression, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Babinski ... |
ORPHA:101109 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Depression, Bradykinesia, Difficulty walking, Hemiatrophy, Tremor, Hemiparesis, Parkinsonism, Dys... |
ORPHA:306669 |
| Spinocerebellar Ataxia 48 |
|
Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski sign, Parkinsonism, At... |
OMIM:618093 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... |
ORPHA:276193 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia |
OMIM:615957 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait |
OMIM:615768 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Steppage gait... |
OMIM:618387 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Depression, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Emotion... |
OMIM:615362 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia |
OMIM:612437 |
| Huntington Disease-Like 1 |
|
Involuntary movements, Abnormal posturing, Incoordination, Chorea, Gait ataxia, Simultanapraxia, ... |
ORPHA:157941 |
| Dystonia 31 |
|
Difficulty walking, Parkinsonism, Abnormal posturing |
OMIM:619565 |
| Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity, Oral mucosal blisters |
OMIM:169610 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Small hand, Bradykinesia, Bruxism, Tremor, Ankle clonus, Motor stereotypy, Abnormal p... |
OMIM:617435 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Bradykinesia... |
ORPHA:454887 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Elbow flexion contracture, Tremor, Aggressive behavior, Hyperactivity, Spastic ... |
OMIM:619470 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Depression, Falls, Neuromuscular dysphagia, Bradykinesia, Tremor, Rigidity, Parkinsonism with fav... |
ORPHA:240085 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Tremor, Irritab... |
ORPHA:3077 |
| Spinocerebellar Ataxia Type 27 |
|
Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressi... |
ORPHA:98764 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Transient hyperphenylalaninemia, Hypertonia, Hyperphenylalaninemia, Tremor |
OMIM:264070 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... |
ORPHA:314978 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Decreased circulatin... |
OMIM:606159 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:311895 |
| Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... |
OMIM:613074 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Hand muscle weakness, Difficulty walking, Inability to walk, Distal upper li... |
ORPHA:101077 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Oppositional defiant disorder, Dysmetria, Tremor, Impaired tandem gait, Lower limb spa... |
OMIM:619028 |
| Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... |
OMIM:300423 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circulating very ... |
OMIM:617916 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Shuffling gait, Spasticity, Pill-rolling tremor, Bradykinesia, Rigidity, Loss of ambulation, Park... |
OMIM:615528 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss o... |
OMIM:614018 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidi... |
ORPHA:240103 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Broad distal phalanx of the thumb, Depression, Hyperphosphatemia, Short 3... |
ORPHA:79444 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Choreoathetosis, Involuntary movemen... |
ORPHA:79443 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Rigidity, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Small hand, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ataxia, Truncal... |
OMIM:610185 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Rigidity, Gait disturbance, Hyperactivity |
OMIM:618090 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia |
ORPHA:599373 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Sma... |
ORPHA:3095 |
| Rapp-Hodgkin Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Progressive alopecia, Narrow m... |
OMIM:129400 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Bradykinesia, Postural tremor, Gait ataxia, ... |
OMIM:600116 |
| Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... |
OMIM:612067 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Tongue atrophy, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation |
OMIM:619651 |
| Optic Atrophy 16 |
|
Paroxysmal tachycardia, Temporal optic disc pallor, Sensorineural hearing impairment |
OMIM:620629 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Tremor, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis |
OMIM:607458 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Gait ataxia, Myoclonus, ... |
ORPHA:101150 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... |
ORPHA:3216 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... |
OMIM:600791 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Compulsive behavio... |
OMIM:619405 |
| Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Short toe, Short finger, Hypocalcemic tetany, Brachydactyly, Short metatarsal,... |
OMIM:103580 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, Bowing of the... |
OMIM:619073 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Bradykinesia... |
ORPHA:391411 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal muscular rigidity, Spe... |
ORPHA:99750 |
| Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio... |
ORPHA:210128 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Aggressive ... |
OMIM:612736 |
| Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Brachydactyly, Short metatarsal, Short meta... |
OMIM:612462 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson... |
OMIM:619738 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Lichtenstein-Knorr Syndrome |
|
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Areflexia of upper limbs, Ataxia, Dysdiadocho... |
OMIM:616291 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Difficulty walking,... |
ORPHA:53351 |
| 48,Xxyy Syndrome |
|
Broad jaw, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Thick lower lip vermilion... |
ORPHA:10 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Tip-toe gait, Generalized dystonia, Bradykinesia, Inability to walk, Limb dystonia, T... |
OMIM:617013 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor |
OMIM:613608 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle weakness, Tremor, Steppage gait, Gait disturbance, Split hand, Thenar muscle atroph... |
OMIM:118300 |
| Filippi Syndrome |
|
Optic atrophy, 2-4 toe syndactyly, Frontal hirsutism, Finger clinodactyly, Hypertrichosis, Serrat... |
OMIM:272440 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Britt... |
ORPHA:2710 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... |
ORPHA:66624 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Reduced haptoglobin level, Irritability, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Congenital sensorineural hearing impairment, Syncope, Prolonged QT interval, ... |
OMIM:220400 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Distal upper limb amyotrophy, Tremor, Ataxia |
ORPHA:101075 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyp... |
ORPHA:99845 |
| Deafness, X-Linked 2 |
|
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... |
OMIM:304400 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Tip-toe gait, Abnormal posturing, Inability to walk, Opisthotonus, Gait disturbance, ... |
ORPHA:216866 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Bradykinesia, Tremor, Rigidity, Irritability, Parkinsonism, Hyperphenylalaninemia, Limb hypertoni... |
OMIM:261640 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Dysphagia, ... |
ORPHA:2590 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Babinski sign, Parkinsonism, Abnormal pyr... |
OMIM:617225 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Spinocerebellar Ataxia 42 |
|
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait,... |
OMIM:616795 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Progressive cerebellar ataxia |
ORPHA:98763 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... |
ORPHA:363417 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Depression, Elevated circulating phytanic acid concentration, Increased phytanic acid... |
OMIM:614307 |
| Huntington Disease-Like 2 |
|
Depression, Bradykinesia, Chorea, Action tremor, Rigidity, Irritability, Dystonia |
OMIM:606438 |
| Deafness, Autosomal Recessive 77 |
|
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:613079 |
| Parkinsonism With Polyneuropathy |
|
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... |
OMIM:619279 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Phenylketonuria |
|
Depression, Tremor, Lower limb spasticity, Hyperphenylalaninemia, Ataxia |
ORPHA:716 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... |
OMIM:303110 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Depression, Resting tremor, Bradykinesia, Incoordination, Limb ataxia, Gait ... |
OMIM:615157 |
| Branchiootic Syndrome 1 |
|
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... |
OMIM:602588 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyramidal sign, Oculomoto... |
OMIM:617145 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... |
ORPHA:52368 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:300983 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormality of the dentition, High anterior hairline, Abnormality of nail color, Camptodactyly of... |
ORPHA:3220 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... |
OMIM:307800 |
| Myoclonic-Atonic Epilepsy |
|
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... |
ORPHA:2751 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Tremor, Babinski sign, Steppage gait, Hypertonia, Hammertoe |
OMIM:609260 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Sensorineural hearing impairment |
ORPHA:85297 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Short foot, Short palm |
OMIM:241410 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, H... |
ORPHA:94093 |
| Autosomal Spastic Paraplegia Type 58 |
|
Erratic myoclonus, Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... |
ORPHA:397946 |
| Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Action tremor, Obsessive-compulsive trait, Attention deficit hyperactivity diso... |
OMIM:617665 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Depression, Pill-rolling tremor, Resting tremor, Hand tre... |
OMIM:612953 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Small hand, Resting tremor, Bradykinesia... |
OMIM:300055 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Autosomal Dominant Hypocalcemia |
|
Depression, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Emotional lability, Writer's cramp, ... |
ORPHA:428 |
| Manganese Poisoning |
|
Depression, Bradykinesia, Akinesia, Postural tremor, Cogwheel rigidity, Emotional lability, Inapp... |
ORPHA:306682 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Bradykinesia, Akinesia, Myoclonus, Tremor, Rigidity, Babinski sig... |
OMIM:606693 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bradykinesia, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Attention defic... |
OMIM:619725 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Myoclonus, Truncal ataxia, Dysphagi... |
OMIM:607346 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Babinski sign |
OMIM:610245 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Nail dystrophy, Oral mucosal bliste... |
OMIM:226650 |
| Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Tongue pain, Strawberry tongue, Xerostomia, Smooth tongu... |
ORPHA:353253 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Hand tremor, Hand muscle weakness, Difficulty walking, Incoordination, Distal upper... |
OMIM:302800 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Increased total iron binding capacity, Bradykinesia, Tremor, Rigidity, Abnor... |
OMIM:613280 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait |
OMIM:213200 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Highly arched eyebrow, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Rad... |
OMIM:605282 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Spasticity, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Ag... |
ORPHA:208441 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... |
ORPHA:1215 |
| X-Linked Intellectual Disability, Hedera Type |
|
Hyporeflexia of upper limbs, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, ... |
ORPHA:93952 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas... |
OMIM:159950 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal st... |
OMIM:101800 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Dry hair, Clinodactyly, Joint contracture of the 5th finger, High palate, Sparse h... |
OMIM:164200 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Glossoptosis |
OMIM:614876 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Clinodactyly, Myoclonus, Gait ataxia, Tremor, Arachnodactyly, Hypertonia, Ataxia, Motor stereotyp... |
OMIM:619092 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia, Dysmetria, Progressive gait a... |
ORPHA:284324 |
| Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Metacarpal periosteal thickening, Hyperphosphatemia, Polydipsia |
OMIM:617994 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ... |
OMIM:619911 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Dysphagia, Tremor, Ataxia |
OMIM:618637 |
| Spinocerebellar Ataxia With Epilepsy |
|
Depression, Gait ataxia, Myoclonus, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysdiadochokine... |
ORPHA:254881 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Irritability, Lethargy, Hyperphenylalaninemia, Limb hyp... |
OMIM:233910 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Difficulty wal... |
OMIM:264700 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Bulging epiphyses, Difficulty walking, Enlargement of the wrists... |
OMIM:600081 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Dystonia, Progressive cere... |
ORPHA:139485 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... |
OMIM:618049 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
| Usher Syndrome Type 1 |
|
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Subcortical... |
ORPHA:231169 |
| Eem Syndrome |
|
Carious teeth, Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Sparse body hair... |
ORPHA:1897 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Unsteady ... |
ORPHA:79263 |
| Gerstmann-Straussler Disease |
|
Spasticity, Depression, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Emotional lability... |
OMIM:137440 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... |
OMIM:157980 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype... |
OMIM:613135 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... |
OMIM:313500 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed er... |
ORPHA:819 |
| Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... |
OMIM:611572 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal bursts of lau... |
OMIM:618718 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101078 |
| Cranioectodermal Dysplasia 4 |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad phalanx of the toes, Cutane... |
OMIM:614378 |
| Behr Syndrome |
|
Dysmetria, Tremor, Babinski sign, Gait disturbance, Dysphagia, Ataxia, Truncal ataxia, Unsteady g... |
OMIM:210000 |
| Nance-Horan Syndrome |
|
Diastema, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-s... |
OMIM:302350 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Irritability, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth, Nail dystrophy, Dystrophic fingernails, Scarring alopecia of s... |
OMIM:619787 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Broad thu... |
OMIM:613684 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, Elevated circulating cr... |
OMIM:614298 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia |
OMIM:618587 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... |
OMIM:612347 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Tremor, Elevated circulating creatine kinase concentratio... |
ORPHA:90117 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Glossoptosis, Cleft palate |
ORPHA:3104 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... |
ORPHA:401768 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dystonia |
ORPHA:329284 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Gait ataxia, Action tremor, Hammertoe |
OMIM:180800 |
| Monomelic Amyotrophy |
|
Distal upper limb amyotrophy, Abnormality of the upper limb, Tremor, Fasciculations |
ORPHA:65684 |
| 48,Xxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Elbow dislocation, Open bite, Abnormal dental enamel mo... |
ORPHA:96263 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho... |
ORPHA:225147 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Emotional lability, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia |
ORPHA:542310 |
| Saccharopinuria |
|
Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal circulating enzyme... |
ORPHA:3124 |
| Hsd10 Disease |
|
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Dysphagia, Choreoathe... |
ORPHA:391417 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue, Facial palsy, Abnormality of retinal pigmentation |
ORPHA:2743 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ... |
ORPHA:209335 |
| Pyle Disease |
|
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... |
OMIM:265900 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment |
ORPHA:231183 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Brad... |
ORPHA:240071 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Difficulty wal... |
OMIM:277440 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Spastic paraparesis, Neuromuscular dysphagia, Difficulty walking, Hemiplegia, Spastic diplegia, E... |
ORPHA:206443 |
| Deafness, Autosomal Dominant 64 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614152 |
| Deafness, Autosomal Dominant 67 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:616340 |
| Deafness, Autosomal Dominant 36 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:606705 |
| Deafness, Autosomal Dominant 72 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:617606 |
| Deafness, Autosomal Dominant 82 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:619804 |
| Deafness, Y-Linked 1 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
| Deafness, Autosomal Dominant 43 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
| Deafness, Autosomal Dominant 33 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Depression, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Tortic... |
OMIM:128100 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Fragile X Tremor/Ataxia Syndrome |
|
Depression, Dysdiadochokinesis, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysm... |
OMIM:300623 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... |
OMIM:607483 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... |
ORPHA:276198 |
| 49,Xxxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Elbow dislocation, Open bite, Abnormal dental enamel mo... |
ORPHA:96264 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Bulging epiphyses, Difficulty walking, Enlargement of the wrists... |
OMIM:241530 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia |
ORPHA:330050 |
| Auriculocondylar Syndrome 4 |
|
Glossoptosis, Narrow mouth, Cleft palate |
OMIM:620457 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Abnormal hair morphology, Agenesis of permanent molar, Oligodontia,... |
OMIM:604625 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Exudative retinal detachment, Facial palsy, Tongue atrophy, Retinal telangiectasia |
OMIM:158900 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... |
ORPHA:2563 |
| Snijders Blok-Campeau Syndrome |
|
Taurodontia, High palate, Enamel hypoplasia, Widely spaced teeth |
OMIM:618205 |
| Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Bradykinesia, Tremor, Rigidi... |
OMIM:615530 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Lateral femoral bowing, Bowing of the long bones, Hydroxyprolin... |
OMIM:239000 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... |
OMIM:614831 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy, Anti-acetylcholine receptor antibody positivity |
OMIM:254300 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Head tremor, Chorea, Action tremor, Myoclonus, Apraxia, Ataxia |
OMIM:620158 |
| Perry Syndrome |
|
Short stepped shuffling gait, Depression, Inappropriate behavior, Bradykinesia, Akinesia, Tremor,... |
OMIM:168605 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign |
ORPHA:477673 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Carious teeth, Nail dystrophy... |
OMIM:226670 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Bradykinesia, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigid... |
OMIM:618877 |
| Sanjad-Sakati Syndrome |
|
Small hand, Short foot, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Tibial torsion, Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fi... |
ORPHA:36387 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Limb ataxia, Gait ataxia, Tremor, Talipes equinovarus, Frequent falls |
OMIM:616719 |
| Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Head tremor, Postural tremor, Gait imbalance, Elevated circulating creatine kina... |
ORPHA:64753 |
| Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Dental malocclusion, Proximal... |
OMIM:616202 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Postaxial ... |
ORPHA:544254 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
| Middle Ear Neuroendocrine Tumor |
|
Abnormal tympanic membrane morphology, Unilateral conductive hearing impairment, Sensorineural he... |
ORPHA:100084 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Depression, Neuromuscular dysphagia, Resting tremor, Postural tremor, Limb atax... |
ORPHA:227510 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Inability to walk, Gait ataxia, Dysmetria, Tremor, Apraxia |
OMIM:617810 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Spastic tetraparesis, Abnormality of coordination, Limb dyston... |
ORPHA:352649 |
| Congenital Disorder Of Glycosylation, Type Iibb |
|
Spasticity, Tetraparesis, Antalgic gait, Tremor, Aggressive behavior |
OMIM:620546 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Bruxism, Tremor, Self-mutilation, Ataxia, Clinodactyly of the 5th finger, Dystonia, Dysphagia, Ch... |
OMIM:619422 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Depression, Generalized dystonia, Postural tremor, Limb dystonia, Gait ataxia, Rigidity, Abnormal... |
ORPHA:98808 |
| Neuroferritinopathy |
|
Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Difficulty walk... |
ORPHA:157846 |
| Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment |
OMIM:616042 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:615654 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystro... |
ORPHA:251393 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase c... |
OMIM:208920 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Conjunctival telangiectasia, Spinocereb... |
ORPHA:95433 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum, Hypopig... |
ORPHA:3214 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Metaphyseal cupping, Clubbing of fingers, Hip contracture, Bowing of the long bones, Metaphyseal ... |
OMIM:156400 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Myoclonus, Tremor |
OMIM:615400 |
| Deafness, Autosomal Dominant 16 |
|
Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
| Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism |
|
Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Fl... |
OMIM:203550 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:605594 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Postural tremor, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Clumsine... |
OMIM:609270 |
| Mohr-Tranebjaerg Syndrome |
|
Spasticity, Abnormal posturing, Tremor |
OMIM:304700 |
| Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... |
OMIM:614669 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism,... |
OMIM:300894 |
| Primary Progressive Freezing Gait |
|
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Restless legs, Rigidity, Bab... |
ORPHA:75567 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Abnormal hip bone morphology, Genu valgum, Hypocalcemia, Hy... |
ORPHA:93160 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Depression, Fasciculations, Difficulty walking, Tremor, Intrinsic hand muscle atrophy, Parkinsoni... |
ORPHA:329478 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... |
ORPHA:90646 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Fasciculations, Tremor, Triceps weakness, Impaired tandem gait, Intrinsic han... |
OMIM:619574 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Delayed eruption of teeth, Horner syndrome, Tongue atrophy, Short mandibular... |
OMIM:141300 |
| Spinocerebellar Ataxia 29 |
|
Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa... |
OMIM:117360 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Premature ventricular contraction, Syncope, Tachycardia, Posteriorly... |
OMIM:192445 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Depression, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkins... |
OMIM:168600 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Depression, Falls, Bradykinesia, Emotional lability, Tremor, Rigidity, Irritabilit... |
ORPHA:683 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... |
OMIM:127000 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Depression, Resting tremor, Bradykinesia, Myoclonus, Rigidity, Loss of ambulation... |
OMIM:168601 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Highly arched eyebrow, Foot joint contracture, Micrognathia, Open mouth, Ten... |
ORPHA:166108 |
| Catel-Manzke Syndrome |
|
Oral synechia, Glossoptosis, Cleft palate |
ORPHA:1388 |
| Eec Syndrome |
|
Carious teeth, Xerostomia, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Sp... |
ORPHA:1896 |
| Cerebellar-Facial-Dental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Dental malocclusion, Foot joi... |
ORPHA:444072 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysme... |
OMIM:183090 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... |
ORPHA:420492 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Paraparesis, Tremor, Ataxia |
ORPHA:99014 |
| Inherited Creutzfeldt-Jakob Disease |
|
Depression, Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia, Spastic hemiparesi... |
ORPHA:282166 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv... |
ORPHA:98773 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Congenital Syphilis |
|
Optic atrophy, Hyperplasia of the maxilla, Tibial bowing, Mulberry molar, Notched primary central... |
ORPHA:499009 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Jalili Syndrome |
|
Abnormal dental enamel morphology, Optic atrophy, Amelogenesis imperfecta, Abnormality of dental ... |
ORPHA:1873 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Tremor, Dysmetria, Loss of ambulation, Babinski sign, Ataxia, Dyston... |
OMIM:607694 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Cystinosis |
|
Polydipsia, Hypokalemia, Hypophosphatemia, Gait disturbance, Abnormal pyramidal sign, Motor stere... |
ORPHA:213 |
| Multiple System Atrophy, Parkinsonian Type |
|
Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,... |
ORPHA:98933 |
| Otosclerosis 11 |
|
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... |
OMIM:620576 |
| Deafness And Myopia |
|
Sensorineural hearing impairment |
OMIM:221200 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Spastic paraplegia, Tip-toe gait, Enlargement of the wrists, Tremor, Babinski sign, Metaphyseal c... |
ORPHA:83629 |
| Oncogenic Osteomalacia |
|
Abnormality of the tarsal bones, Abnormal femur morphology, Hypocalcemia, Tibial bowing, Hypophos... |
ORPHA:352540 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at... |
OMIM:608768 |
| Peroxisome Biogenesis Disorder 5B |
|
Elevated circulating phytanic acid concentration, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, ... |
OMIM:614867 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Cystathioninuria |
|
Talipes equinovarus, Cystathioninemia, Tremor |
ORPHA:212 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Spasticity, Abnormality of somatosensory evoked potentials, Difficulty walking, Head tremor, Abno... |
ORPHA:280219 |
| Dystonia 34, Myoclonic |
|
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia |
OMIM:619724 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Tremor, Self-mutilation, Hyperkinetic movements, Single transverse palmar crease, Gai... |
ORPHA:457240 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Carious teeth, Retrognathia, Long philtrum, Radial deviation of finger, Elbow flexion contracture... |
OMIM:272430 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemic rickets, Hypoph... |
ORPHA:157215 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue, Arrhythmia, Decreased nerve conduction velocity |
ORPHA:2928 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculogyric crisis, Depression, Abnormal circulating biopterin concentration, Tremor, ... |
OMIM:612716 |
| Ataxia With Vitamin E Deficiency |
|
Dysmetria, Tremor, Hemiplegia/hemiparesis, Gait disturbance, Abnormal pyramidal sign, Hypertonia,... |
ORPHA:96 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Sparse eyebrow, Everte... |
OMIM:305100 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Spastic paraplegia, Broad-based gait, Depression, Generalized dystonia, Inability to walk... |
OMIM:312080 |
| Postencephalitic Parkinsonism |
|
Involuntary movements, Oculogyric crisis, Depression, Resting tremor, Akinesia, Cogwheel rigidity... |
ORPHA:97349 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia |
OMIM:224500 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Tetraparesis, Gait ataxia, Limb dystonia, Tremor, Hypertrigl... |
ORPHA:363400 |
| Aceruloplasminemia |
|
Blepharospasm, Decreased circulating iron concentration, Ataxia, Involuntary movements, Decreased... |
ORPHA:48818 |
| 4H Leukodystrophy |
|
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... |
ORPHA:289494 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Involuntary movements, Difficulty walking, Abnormality of coordination, Myoclonus, Tr... |
ORPHA:442835 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Inte... |
OMIM:616505 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor |
ORPHA:79234 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral palsy, Tremor, Leth... |
ORPHA:765 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy, Molar tooth sign on MRI |
OMIM:617121 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia, Clumsiness, Hypert... |
ORPHA:137898 |
| Schimke Immuno-Osseous Dysplasia |
|
Microdontia, Abnormal femoral head morphology, Abnormal primary molar morphology, Hypodontia, Wid... |
ORPHA:1830 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal hair morphology, Abnormal dental morphology, Premature loss of prim... |
ORPHA:248 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Spastic paraplegia, Spasticity, Impaired vibratory sensation, Dysmetria, Babinski sign, Abnormal ... |
ORPHA:459056 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Neuronal Intranuclear Inclusion Disease |
|
Gait disturbance, Rigidity, Tremor, Ataxia |
OMIM:603472 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Difficulty walking, Enlargement o... |
ORPHA:289157 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Developmental And Epileptic Encephalopathy 42 |
|
Athetosis, Hypertonia, Tremor, Ataxia |
OMIM:617106 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Ataxia |
OMIM:612016 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia |
ORPHA:70594 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Difficulty walking, Chorea, Tremor, Elevated circulating crea... |
OMIM:615673 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Dysphagia, Tremor, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia |
ORPHA:1170 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
| Multiple System Atrophy |
|
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... |
ORPHA:102 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Inability to walk, Tremor, Attention deficit hyperactivity disorder, Hypertonia, Ataxia |
OMIM:619556 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Stenosis of the medullary cavity of the long bones, Corti... |
ORPHA:93325 |
| Linear Verrucous Nevus Syndrome |
|
Toe syndactyly, Hypophosphatemia, Short metacarpal |
ORPHA:2611 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... |
ORPHA:1028 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Spasticity, Dysdiadochokinesis, Resting tremor, Akinesia, Gait ataxia, Rigidity, ... |
ORPHA:247234 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Bowing of the legs |
OMIM:146350 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Vestibular areflexia, Sensorineural hearing impairment |
OMIM:609006 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| Solar Urticaria |
|
Syncope, Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... |
OMIM:619260 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Episodic ataxia, Myoclonus, Tremor, Lethargy, Hyperalaninemia, Dystonia, Increased serum pyruvate... |
OMIM:312170 |
| Waisman Syndrome |
|
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... |
OMIM:311510 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... |
ORPHA:101 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
High anterior hairline, Single transverse palmar crease, Brachydactyly, Adducted thumb, Notched p... |
OMIM:620062 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Femoral bowing, Fi... |
OMIM:300554 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Carious teeth, Skeletal muscle atrophy, Hypodontia, Ulnar deviation of the hand, Limb j... |
OMIM:612079 |
| Oculopharyngodistal Myopathy 3 |
|
Ataxia, Dysphagia, Tremor, Elevated circulating creatine kinase concentration |
OMIM:619473 |
| Meckel Syndrome 13 |
|
Retinopathy, Molar tooth sign on MRI |
OMIM:617562 |
| Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... |
OMIM:618729 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Hip dislocation, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Abnormal pyramid... |
OMIM:614381 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
| Cohen Syndrome |
|
High, narrow palate, Optic atrophy, Hypoplasia of the maxilla, Macrodontia of permanent maxillary... |
OMIM:216550 |
| Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord... |
OMIM:602433 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Abnormal circulating biopterin concentration, Hypomagnesemia, ... |
ORPHA:1578 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Depression, Tremor, Hyperkinetic movements, Gait disturbance, Hip subluxation |
OMIM:300957 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... |
OMIM:618056 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Small hand, Sandal gap, Gait ataxia, Emotional lability, Tremor, Aggressive behavior, Hyperactivi... |
OMIM:300354 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Dyskeratosis Congenita |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko... |
ORPHA:1775 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Shaheen Syndrome |
|
Palmoplantar hyperkeratosis, Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Abnormal circ... |
ORPHA:199351 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Coarctation of aorta, Abnormal posturing |
OMIM:614857 |
| Tay-Sachs Disease |
|
Incoordination, Mania, Dysphagia, Poor fine motor coordination, Depression, Inability to walk, Li... |
ORPHA:845 |
| Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H... |
OMIM:248250 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Lethargy, At... |
ORPHA:466650 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, 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 |
| Perry Syndrome |
|
Parkinsonism, Depression, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Tonne-Kalscheuer Syndrome |
|
Self-injurious behavior, Broad-based gait, Spasticity, Broad thumb, Tremor, Aggressive behavior, ... |
OMIM:300978 |
| Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Microglossia, Long philtrum, Narrow mouth, High palate |
OMIM:277720 |
| Spinocerebellar Ataxia Type 13 |
|
Optic atrophy, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, ... |
ORPHA:98768 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Progressive spastic quadriplegia,... |
ORPHA:309246 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Genu valgum, Prominent median palata... |
OMIM:300602 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Carious teeth, Toe syndactyly, Finger syndactyly, Micrognathia, Bilateral single transverse palma... |
ORPHA:3253 |
| Hypoglossia With Situs Inversus |
|
Microglossia, Polysplenia, Narrow mouth, Hypodontia, Asplenia, High palate |
OMIM:612776 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Short attention span, Ethmoidal encephaloce... |
ORPHA:280195 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Classic Phenylketonuria |
|
Self-injurious behavior, Depression, Hemiplegia, Paraplegia, Tremor, Attention deficit hyperactiv... |
ORPHA:79254 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth |
OMIM:618732 |
| Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... |
ORPHA:705 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets, Genu valgum |
OMIM:618913 |
| Parkinson Disease 21 |
|
Bradykinesia, Parkinsonism, Tremor, Rigidity |
OMIM:616361 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Unilateral radial aplasia, Hypercalcemia, Partial absence of thumb, Gait ataxia, Tremor, Self-mut... |
ORPHA:476126 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Limited elbow extension, Thin upper lip vermilion, Achilles tendon contractu... |
OMIM:619719 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Carious teeth, Facial paralysis, Mandibular osteomyelitis, Cranial nerve compressi... |
OMIM:259710 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia |
ORPHA:529665 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Spastic paraplegia, Abnormal pelvic girdle bone morphology, Resting tremor, Gait ataxia, Hoffmann... |
OMIM:601162 |
| Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Depression, Resting tremor, Bradykinesia, Akinesia, Low frustration tolerance, Ri... |
ORPHA:411602 |
| Joubert Syndrome 20 |
|
Retinopathy, Molar tooth sign on MRI |
OMIM:614970 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Genu valgum... |
ORPHA:534 |
| Myoclonic-Astatic Epilepsy |
|
Abnormal emotion, Tremor, Attention deficit hyperactivity disorder, Abnormal pyramidal sign, Hype... |
ORPHA:1942 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... |
ORPHA:2919 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Young-Onset Parkinson Disease |
|
Spasticity, Depression, Bradykinesia, Gait imbalance, Restless legs, Tremor, Rigidity, Impulsivit... |
ORPHA:2828 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level |
OMIM:103900 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limited elbow flexion, Difficulty walking, Tremor, Steppage gait, Gait disturbance, Frequent fall... |
ORPHA:206594 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykines... |
OMIM:234200 |
| East Syndrome |
|
Polydipsia, Hypomagnesemia, Difficulty walking, Inability to walk, Action tremor, Hypokalemia, Sa... |
ORPHA:199343 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia, Ataxia, Severe temper tantru... |
OMIM:617710 |
| Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Short met... |
OMIM:190350 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum |
ORPHA:1387 |
| Orofaciodigital Syndrome Xv |
|
Midline notch of upper alveolar ridge, Lobulated tongue |
OMIM:617127 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Tremor, Dystonia, Dysphagia, Choreoathetosis |
OMIM:617664 |
| Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion... |
OMIM:602483 |
| Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Dysphagia, Tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Abnormality of the sense of smell, Submucous cleft hard palate, Hypodontia, ... |
ORPHA:3201 |
| Mulibrey Nanism |
|
Pigmentary retinopathy, Microglossia, Dental malocclusion, Dental crowding, Congestive heart fail... |
OMIM:253250 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Long philtrum, Long eyelashes, Narrow mouth, Single transverse palmar crease, Thin vermilion bord... |
OMIM:615502 |
| Unilateral Polymicrogyria |
|
Epistaxis, Involuntary movements, Abnormal posturing, Giant somatosensory evoked potentials, Pseu... |
ORPHA:268943 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Arachno... |
ORPHA:1883 |
| Myopathy, Mitochondrial, And Ataxia |
|
Depression, Difficulty walking, Inability to walk, Limb ataxia, Tremor, Elevated circulating crea... |
OMIM:617675 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... |
ORPHA:69087 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp... |
OMIM:257850 |
| Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Occipital encephalocele, Cleft palate, Lobulated tongue |
OMIM:614815 |
| Plummer-Vinson Syndrome |
|
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Iron deficiency anemia, Hypochromic m... |
ORPHA:54028 |
| Branchiootic Syndrome |
|
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... |
ORPHA:52429 |
| Bor Syndrome |
|
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... |
ORPHA:107 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Bowing of the legs |
ORPHA:89937 |
| Johnson Neuroectodermal Syndrome |
|
Sparse hair, Alopecia, Carious teeth, Preaxial hand polydactyly, Absent eyelashes, Hand polydacty... |
ORPHA:2316 |
| Jalili Syndrome |
|
Optic disc pallor, Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Agitation, Tremor |
ORPHA:276608 |
| Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Retinal dystrophy |
OMIM:614465 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus |
OMIM:618060 |
| Opsismodysplasia |
|
Hypoplastic ischia, Rhizomelia, Metaphyseal cupping, Short phalanx of finger, Hypophosphatemia, S... |
OMIM:258480 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism, Resting tremor, Rigidity |
OMIM:614251 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Fibrous Dysplasia Of Bone |
|
Difficulty walking, Abnormal tibia morphology, Abnormal pelvis bone morphology, Abnormal femur mo... |
ORPHA:249 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Dental crowding, Exaggerated median tongue furrow, Mitral regurgitation, Narrow pa... |
ORPHA:313892 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Short philtrum, Downturned corners of mouth, Lobulated tongue |
OMIM:613443 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology |
OMIM:611890 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe... |
OMIM:300009 |
| Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Agitation |
ORPHA:340 |
| Congenital Sialidosis Type 2 |
|
Optic atrophy, Cherry red spot of the macula, Abnormal EKG, Hepatosplenomegaly, Gingival overgrow... |
ORPHA:93400 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor, Elevated circulating creatine kinase conce... |
OMIM:606002 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Orofaciodigital Syndrome Xix |
|
Narrow palate, Carious teeth, Toe syndactyly, Downturned corners of mouth, Lobulated tongue, Retr... |
OMIM:620107 |
| Trisomy X |
|
Depression, Tremor, Attention deficit hyperactivity disorder, Hip dysplasia, Clinodactyly of the ... |
ORPHA:3375 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging... |
ORPHA:530 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Toe syndactyly, Small hand, Sandal gap, Camptodactyly of finger, Tremor, Down-s... |
ORPHA:85293 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperl... |
ORPHA:247585 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Ataxia |
OMIM:607876 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue fasciculations, Tongue atrophy, Retinal dystrophy |
OMIM:614678 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Abnormal palate... |
ORPHA:100026 |
| Cherubism |
|
Marcus Gunn pupil, Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligo... |
OMIM:118400 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Emotional lability, Tremor, Irritability, Lethargy, Decreased serum zinc, Ataxia |
OMIM:201100 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... |
ORPHA:1193 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level |
OMIM:218030 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Conical incisor, E... |
OMIM:614564 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Narrow mouth, Bilateral s... |
OMIM:235510 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:620269 |
| Orofaciodigital Syndrome V |
|
Bifid uvula, Optic disc coloboma, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, M... |
OMIM:174300 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Facial palsy, Abnormal autonomic nervous system physiology, Macroglossia, Cheilitis |
ORPHA:2483 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Open mouth, Thin upper lip vermilion, High palate, Glossoptosis, Pierre-Robin sequence |
OMIM:613604 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Inappropriate laughter, Gait imbalance, Myoclonus, Abnormal eating behavior, Tr... |
ORPHA:98794 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Joubert Syndrome 6 |
|
Chorioretinal coloboma, Hypoplasia of the brainstem, Retinal degeneration, Elongated superior cer... |
OMIM:610688 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
| Cronkhite-Canada Syndrome |
|
Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, Anemia, Hepatomegaly, Hypoge... |
ORPHA:2930 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Diffuse cerebral atrophy, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:606943 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia |
OMIM:619718 |
| Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Difficulty walking, Abnormal circulating porphyrin co... |
ORPHA:100924 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia |
OMIM:602481 |
| Sandifer Syndrome |
|
Hematemesis, Abnormal posturing, Torticollis |
ORPHA:71272 |
| Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord |
ORPHA:35689 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Single transverse palmar crease, Elevated circulating c... |
OMIM:619743 |
| Jaberi-Elahi Syndrome |
|
Hand clenching, Broad-based gait, Inability to walk, Gait ataxia, Tremor, Dysmetria, Appendicular... |
OMIM:617988 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Decreased nerve conduction velocity, Glossoptosis, Cleft palate |
OMIM:618356 |
| Deafness-Craniofacial Syndrome |
|
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S... |
ORPHA:3241 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... |
ORPHA:137888 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:94059 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign |
OMIM:616840 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Difficulty walking, Inability to walk, Speech apraxia, Chorea, Tremor, Elevated circulating creat... |
OMIM:615356 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor |
ORPHA:98902 |
| Pallister-Hall-Like Syndrome |
|
Microglossia, Occipital encephalocele, Median cleft upper lip, Hydrocephalus, Cleft palate |
OMIM:241800 |
| Hyperparathyroidism, Neonatal Severe |
|
Metaphyseal irregularity, Polydipsia, Hypophosphatemia, Calcinosis, Hypercalcemia |
OMIM:239200 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Hemidystonia, Speech apraxia, Recurrent hand flapping, Tremor, Aggressive behavior, Attention def... |
OMIM:619680 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| X-Linked Agammaglobulinemia |
|
Hepatitis, Autoimmunity, Neutropenia, Thrombocytopenia, Anemia, Glossoptosis, Recurrent cutaneous... |
ORPHA:47 |
| Nipah Virus Disease |
|
Myoclonus, Tremor, Anorexia |
ORPHA:99825 |
| Collagenoma, Familial Cutaneous |
|
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... |
OMIM:115250 |
| Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Carious teeth, Short nail, Premature loss of primary teeth, Prematu... |
ORPHA:1811 |
| Icf Syndrome |
|
Lymphopenia, Communicating hydrocephalus, Protruding tongue, Anemia, Macroglossia, Abnormality of... |
ORPHA:2268 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Axial dystonia, Tremor, Rigidity, Ir... |
OMIM:601104 |
| Hypomandibular Faciocranial Dysostosis |
|
Aglossia, Optic disc coloboma, Pursed lips |
OMIM:241310 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ... |
OMIM:200990 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Spasticity, Dysdiadochokinesis, Tetraparesis, Gait ataxia, Action tre... |
ORPHA:99027 |
| Psoriasis 14, Pustular |
|
Furrowed tongue, Leukocytosis, Geographic tongue, Neutrophilia, Cholangitis |
OMIM:614204 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607060 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio... |
OMIM:609136 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Aglossia, Narrow mouth, Holoprosencephaly, Cleft palate |
OMIM:202650 |
| Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis, Long philtrum, Aplasia/Hypoplasia of the tongue, Facial palsy, Thin vermilio... |
ORPHA:1358 |
| X-Linked Hypophosphatemia |
|
Flattening of the talar dome, Shortening of the talar neck, Abnormal epiphysis morphology, Trapez... |
ORPHA:89936 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Periodic hypokalemic paresis, Hypomagnesemia, Tremor, Respiratory paralysis... |
ORPHA:79102 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Spastic paraparesis, Increased total iron binding ... |
ORPHA:309854 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly, Abnormal cranial nerve morphology, Microglossia, Narrow mouth |
ORPHA:990 |
| Trisomy 8Q |
|
Myelomeningocele, Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion... |
ORPHA:1752 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertensive retinopathy, Abnormality of circulating cortisol level, Decreased circu... |
ORPHA:320 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Glossitis, Cheilitis |
ORPHA:90045 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Postural tremor, Gait ataxia, Action tremor, Myoclonus, Unsteady gait, Dysphagia... |
OMIM:254900 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... |
OMIM:606895 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Tremor |
OMIM:612164 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Hypertrophic cardiomyopathy, Protruding tongue, Alveolar ridge overgrowth, Hydroceph... |
OMIM:612938 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level |
OMIM:605115 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
| Typhoid |
|
Lethargy, Hypertonia, Tremor, Ataxia |
ORPHA:99745 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Single transverse palmar crease, Aggressive behavior, Hypertonia, Clinodactyly of the 5th... |
OMIM:608093 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Depression |
OMIM:600740 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Tongue atrophy, Xerostomia, Amyotrophic lateral sclerosis |
ORPHA:803 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Coni... |
OMIM:602400 |
| Orofaciodigital Syndrome Iii |
|
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules |
OMIM:258850 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Generalized hypertrichosis, Hypoplasia of the maxilla, Downturned corners of... |
ORPHA:2409 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Cervical spinal cord atrophy, Sensorineural hearing impairme... |
ORPHA:101085 |
| Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate... |
OMIM:258860 |
| Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of... |
OMIM:311200 |
| O'Sullivan-Mcleod Syndrome |
|
Hand muscle weakness, Intrinsic hand muscle atrophy, Tremor, Fasciculations |
ORPHA:99965 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Depression, Tremor, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Glossoptosis, Chorioretinal coloboma, Congenital hepatic fibrosis |
ORPHA:2031 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor |
OMIM:615578 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Seckel Syndrome 2 |
|
Heart murmur, Microglossia, Microdontia |
OMIM:606744 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl... |
OMIM:616367 |
| Joubert Syndrome 17 |
|
Abnormal retinal morphology, Molar tooth sign on MRI |
OMIM:614615 |
| Adult Krabbe Disease |
|
Abnormal midbrain morphology, Mental deterioration, Abnormal medulla oblongata morphology, Delaye... |
ORPHA:206448 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Choreoacanthocytosis |
|
Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of ambulation, Parkinsonism... |
ORPHA:2388 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Tip-toe gait, Hand mu... |
ORPHA:99956 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Orofaciodigital Syndrome Ii |
|
Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Hydrocephalus, Bifi... |
OMIM:252100 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Periodic paralysis, Tremor |
OMIM:613239 |
| Pycnodysostosis |
|
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... |
OMIM:265800 |
| Gm1-Gangliosidosis, Type Ii |
|
Optic atrophy, Sea-blue histiocytosis, Gingival overgrowth, Narrow mouth, Protruding tongue, Sple... |
OMIM:230600 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment |
OMIM:193700 |
| Camurati-Engelmann Disease |
|
Carious teeth, Skeletal muscle atrophy, Cranial nerve compression, Optic nerve compression, Genu ... |
OMIM:131300 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss of ambulation, Right ... |
OMIM:607426 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Tip-toe gait, Anorexia, Recurrent hand fla... |
ORPHA:3008 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... |
ORPHA:324410 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Tremor, Ataxia |
ORPHA:713 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... |
ORPHA:411634 |
| Juvenile Sialidosis Type 2 |
|
Optic atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Gingival overgrowth, Protruding... |
ORPHA:93399 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Cohen Syndrome |
|
High, narrow palate, Abnormality of the dentition, Optic atrophy, Aplasia/Hypoplasia of the tongu... |
ORPHA:193 |
| Tetanus |
|
Tremor, Rigidity, Elevated circulating creatine kinase concentration, Opisthotonus, Hypertonia, S... |
ORPHA:3299 |
| Metachromatic Leukodystrophy |
|
Addictive behavior, Tip-toe gait, Decerebrate rigidity, Incoordination, Emotional lability, Tremo... |
ORPHA:512 |
| Marshall Syndrome |
|
Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Small proximal ti... |
OMIM:154780 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue fasciculations, Tongue atrophy |
OMIM:620285 |
| Orofaciodigital Syndrome Type 3 |
|
Bifid uvula, Abnormality of the dentition, Cherry red spot of the macula, Hamartoma of tongue, Ir... |
ORPHA:2752 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, Exaggerated s... |
ORPHA:438216 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Tetraparesis, Tremor, Rigidity, Irritability, Torticollis, Ataxia, Restlessness |
OMIM:617186 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
| Xq21 Microdeletion Syndrome |
|
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... |
ORPHA:1435 |
| Alternating Hemiplegia Of Childhood |
|
Episodic hemiplegia, Tetraparesis, Oral-pharyngeal dysphagia, Anorexia, Chorea, Emotional labilit... |
ORPHA:2131 |
| Hyperlysinemia |
|
Hypoornithinemia, Poor motor coordination, Tip-toe gait, Hyperammonemia, Tremor, Dysmetria, Neck ... |
ORPHA:2203 |
| Hereditary Mucoepithelial Dysplasia |
|
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth |
ORPHA:1839 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Xerostomia, Short thumb, Widely spaced teeth, Partial duplication of thumb phalanx... |
OMIM:620193 |
| Raine Syndrome |
|
Micromelia, Long hallux, Neonatal death, Bowing of the long bones, Hypophosphatemia, Brachydactyly |
OMIM:259775 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnormal lip morphology |
ORPHA:2759 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Joint contracture of the hand, Proximal muscle weakness in upper limbs, Tongue tremor, Tip-toe ga... |
ORPHA:466768 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
| Wolfram Syndrome 1 |
|
Dysphagia, Limited mobility of proximal interphalangeal joint, Tremor, Ataxia |
OMIM:222300 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Dry hair, Short nail, Smooth tongue, Widely spaced primary teeth, Sparse body hai... |
OMIM:257980 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Reduced number of intrahepatic bile ducts, Intraventricular hemorrhage, Megaloblastic anemia, Neu... |
ORPHA:79284 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athetosis, Dy... |
ORPHA:25 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Lethargy, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
| Fanconi-Bickel Syndrome |
|
Bowing of the long bones, Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia |
OMIM:618527 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Orofaciodigital Syndrome Type 6 |
|
Finger clinodactyly, Preaxial polydactyly, Tremor, Hand polydactyly, Gait disturbance, Mesoaxial ... |
ORPHA:2754 |
| Joubert Syndrome |
|
Tremor, Hand polydactyly, Oculomotor apraxia, Gait disturbance, Ataxia, Foot polydactyly |
ORPHA:475 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
High anterior hairline, Cleft lip, Dry hair, Coarse hair, Palmoplantar keratoderma, Nail dystroph... |
OMIM:620519 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| Tarp Syndrome |
|
Optic atrophy, Hepatic failure, Meckel diverticulum, Subdural hemorrhage, High palate, Glossoptos... |
OMIM:311900 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Thin upper lip vermilion, Glossitis, Anemia, Tracheoesophageal fistula, Megaloblast... |
OMIM:277380 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Pulmonary embolism, S... |
ORPHA:79282 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231632 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... |
ORPHA:90321 |
| Gabriele-De Vries Syndrome |
|
Tip-toe gait, Sandal gap, Tremor, Attention deficit hyperactivity disorder, Hallux valgus, Long f... |
OMIM:617557 |
| Faciocardiomelic Dysplasia, Lethal |
|
Microglossia, Narrow mouth |
OMIM:227270 |
| Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Optic disc coloboma, Aplasia/Hypoplasia of the tongue, Narrow mouth, Cleft palate |
ORPHA:1790 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, Narrow mouth, Abnormal cranial nerve morphology, Jejunal atresi... |
ORPHA:989 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Xerostomia, Anemia, Glossitis, Hamartomatous polyposis |
OMIM:175500 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Athetosis, Primary hyperaldosteronism, Decreased circulating renin level |
OMIM:615474 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Joubert Syndrome 1 |
|
Hepatic fibrosis, Chorioretinal coloboma, Optic disc coloboma, Occipital myelomeningocele, Triang... |
OMIM:213300 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... |
OMIM:227810 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Decreased liver function, Congestive heart failure, Elevated circulating aspartate aminotransfera... |
OMIM:608779 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Long philtrum, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, Thromboc... |
OMIM:611209 |
| Arthrogryposis, Distal, Type 5D |
|
Furrowed tongue, Open mouth, Narrow mouth, Tongue atrophy, Cleft palate |
OMIM:615065 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Niemann-Pick Disease Type C |
|
Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxia, Dysphagia, Depres... |
ORPHA:646 |
| Mogs-Cdg |
|
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... |
ORPHA:79330 |
| Developmental And Epileptic Encephalopathy 80 |
|
Long philtrum, Tented upper lip vermilion, Protruding tongue, Smooth philtrum, Optic disc pallor,... |
OMIM:618580 |
| Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Abnormal mesentery morphology, Cleft palate |
ORPHA:2167 |
| Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Tooth agenesis, Peg-shaped maxillary later... |
OMIM:150400 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
| Giant Cell Arteritis |
|
Optic atrophy, Vasculitis, Epistaxis, Hepatic failure, Cerebral ischemia, Arrhythmia, Glossitis, ... |
ORPHA:397 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level, Increased circulating cortisol level, Glucocortoc... |
ORPHA:231625 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Bifid tongue, Bilateral cleft palate |
ORPHA:2001 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Asplenia, Hypoplastic spleen, Hydrocephalus |
OMIM:602361 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Hypocalcemia, Tremor, Bowing of the long bones, Hypophosphatemia, ... |
ORPHA:667 |
| Tetraamelia Syndrome 2 |
|
Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip |
OMIM:618021 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... |
OMIM:618106 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Falls, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Lower li... |
ORPHA:447753 |
| Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Retinal detachment, Exaggerate... |
OMIM:253800 |
| Lelis Syndrome |
|
Hypodontia, Carious teeth, Furrowed tongue |
ORPHA:140936 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Depression, Resting tremor, Shoulder girdle muscle weakness, Gait ataxia, Cogwheel rigidity, Trem... |
ORPHA:254892 |
| Serotonin Syndrome |
|
Myoclonus, Tremor, Rigidity, Irritability, Clonus, Hypertonia, Restlessness, Agitation |
ORPHA:43116 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
| Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
| Marshall-Smith Syndrome |
|
Optic atrophy, Gingival overgrowth, Open mouth, Protruding tongue |
ORPHA:561 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Reduced natural killer cell count, T lymphocytopenia, Protruding tongue |
OMIM:242860 |
| Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Short distal phalanx of finger, Sy... |
ORPHA:289 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
| Ramos-Arroyo Syndrome |
|
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Chorioretinal atrophy, Cho... |
ORPHA:1051 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Furrowed tongue, Tented upper lip vermilion, Pulmonary arterial hypertension, Everted lower lip v... |
OMIM:616449 |
| Agel Amyloidosis |
|
Xerostomia, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abn... |
ORPHA:85448 |
| Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Furrowed tongue, Corneal neovascularization, Eosinophilia, Melena |
OMIM:158310 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
| Mercury Poisoning |
|
Hypokalemia, Dystonia, Tremor, Anorexia |
ORPHA:330021 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Microglossia, Retinal coloboma, Thick anterior alveolar ridges, Hydrocephalus, S... |
ORPHA:2839 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue fasciculations, Facial palsy, Tongue atrophy, Cranial nerve motor loss |
OMIM:211530 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Tremor, Ataxia |
ORPHA:28378 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Narrow mouth, Angioid streaks of the fundus, High palate, H... |
OMIM:615108 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Abnormal motor evoked pot... |
ORPHA:909 |
| Alexander Disease |
|
Self-injurious behavior, Spasticity, Depression, Chorea, Emotional lability, Tremor, Gait disturb... |
ORPHA:58 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Abnormality of the sense of smell, ... |
ORPHA:570 |
| Spinocerebellar Ataxia 36 |
|
Tongue fasciculations, Tongue atrophy |
OMIM:614153 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231580 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia |
OMIM:146500 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Hypophosphatemic ricke... |
OMIM:219800 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open... |
ORPHA:1452 |
| Dent Disease |
|
Renal hypophosphatemia, Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wr... |
ORPHA:1652 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
| Myopathy, Myofibrillar, 7 |
|
Facial palsy, Tongue atrophy |
OMIM:617114 |
| Generalized Pustular Psoriasis |
|
Elevated circulating hepatic transaminase concentration, Congestive heart failure, Lymphopenia, L... |
ORPHA:247353 |
| Meckel Syndrome |
|
Accessory spleen, Optic atrophy, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the ton... |
ORPHA:564 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Decreas... |
OMIM:216400 |
| Down Syndrome |
|
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Polycythe... |
ORPHA:870 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microglossia, Narrow mouth, Microdontia, High palate, Cleft palate |
ORPHA:1307 |
| Mandibuloacral Dysplasia |
|
Dental crowding, High palate, Hypoplasia of teeth, Abnormal tongue morphology |
ORPHA:2457 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Distal femoral bowing, Hypophosphatemic rickets, Enlargement of the wrist... |
ORPHA:289176 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Diastema, Furrowed tongue, Thin upper lip vermilion, Smooth philtrum, High palate |
OMIM:300534 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Cerebral atrophy, Decreased nerve conduction ... |
OMIM:133540 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Polydipsia |
ORPHA:411629 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Furrowed tongue, Narrow mouth, Angioid streaks of the fundus, High palate, H... |
OMIM:615109 |
| Orofaciodigital Syndrome Type 1 |
|
Abnormality of the dentition, Odontogenic neoplasm, Elevated circulating hepatic transaminase con... |
ORPHA:2750 |
| Hypoglossia-Hypodactylia |
|
Aglossia, Microglossia, Narrow mouth |
OMIM:103300 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue, Pulmonic stenosis |
OMIM:614325 |
| Hartnup Disease |
|
Gingivitis, Glossitis |
ORPHA:2116 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... |
ORPHA:171929 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Pearson Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Ataxia, Dysphagia |
ORPHA:699 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Furrowed tongue, Lymphopenia, Narrow mouth, Angioid streaks of the fundus, H... |
OMIM:158350 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Small hand, Incoordination, Tremor, Single transverse palmar crease, Abnormal pyramidal sign, Ata... |
OMIM:614947 |
| Orofaciodigital Syndrome Vi |
|
Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the upper lip, High p... |
OMIM:277170 |
| Ataxia-Telangiectasia |
|
Progressive cerebellar ataxia, Dysdiadochokinesis, Inability to walk, Myoclonus, Intention tremor... |
OMIM:208900 |
| Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Spasticity, Hemiplegia, Metaphyseal sclerosis, Genu valgum, Tremor, Abnormality of extrapyramidal... |
OMIM:612199 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Protruding tongue, Widely spaced teeth |
ORPHA:98795 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia |
OMIM:610706 |
| Frontorhiny |
|
Cranium bifidum occultum, Encephalocele, Basal encephalocele, Bifid tongue, Cleft palate |
ORPHA:391474 |
| Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Gingival overgrowth, Protruding tongue |
OMIM:620352 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Sparse hair, Aplasia of the eccrine sweat glands, Lymphedema |
OMIM:300291 |
| Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palat... |
OMIM:269860 |
| Otospondylomegaepiphyseal Dysplasia |
|
Bifid uvula, Glossoptosis, Cleft palate |
ORPHA:1427 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Ankyloglossia, Bilateral cleft palate, Thin upper lip vermilion, Bilateral cleft lip, Enamel hypo... |
OMIM:618874 |
| Vici Syndrome |
|
Dilated cardiomyopathy, Abnormal posturing, Cardiomyopathy, Congestive heart failure |
OMIM:242840 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Hypertonia, Tremor, Rigidity |
OMIM:176500 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Microglossia, Facial palsy, Pulmonary arterial hypertension, High palate, Glossoptosis, Cleft pal... |
OMIM:254940 |
| Early Infantile Epileptic Encephalopathy |
|
Self-injurious behavior, Spasticity, Episodic ataxia, Short finger, Broad phalanx of the toes, My... |
ORPHA:1934 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Everted... |
OMIM:212066 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Spasticity, Tremor, Irritability, 2-3 toe syndactyly, Babinski sign, Hypertonia, Elevated hemoglo... |
OMIM:616539 |
| Treacher-Collins Syndrome |
|
Abnormality of the dentition, Cleft upper lip, Tooth agenesis, Open bite, Abnormal dental enamel ... |
ORPHA:861 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, ... |
ORPHA:73223 |
| Japanese Encephalitis |
|
Abnormal midbrain morphology, Decreased motor nerve conduction velocity, Abnormal substantia nigr... |
ORPHA:79139 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cleft lip, Natal tooth, Hamartoma of tongue, Encephalocele, Incomplete cleft of the upper lip, Bi... |
OMIM:616300 |
| Rubinstein-Taybi Syndrome 1 |
|
Facial hypertrichosis, Broad thumb, Micrognathia, Narrow mouth, Frontal upsweep of hair, Low post... |
OMIM:180849 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Mccune-Albright Syndrome |
|
Hypophosphatemia, Abnormal femur morphology |
ORPHA:562 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormality of the sense of smell, Orofacial cleft, Tracheoesop... |
ORPHA:958 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Microglossia, Tented upper lip vermilion, Agenesis of central incisor, Exa... |
ORPHA:364577 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Persistence of primary teeth, Protruding tongue, Everted lower lip vermilion, Macrog... |
OMIM:610253 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, Cholelithiasis, Furrowed tongue, Tented upper lip vermilion, Exaggerated cup... |
ORPHA:464738 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Tongue fasciculations, Difficulty in tongue movements, Optic atrophy, Facial paralysis, Abnormal ... |
ORPHA:99949 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu... |
OMIM:616894 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bifid uvula, Downturned corners of mouth, Furrowed tongue, Open mouth, Oligodontia, Abnormal auto... |
ORPHA:453499 |
| Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Protruding tongue, Widely spaced teeth |
ORPHA:411511 |
| Acrodermatitis Enteropathica |
|
Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis |
ORPHA:37 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Short hard palate, Spina bifida, Meningocele, Glossoptosis, Cl... |
ORPHA:1393 |
| Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Narrow mouth, Encephalocele, Oligodontia, Anodontia, Hydrocephalus, Glossoptosi... |
ORPHA:90652 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gingival overgrowth, Wide mouth, Protruding tongue |
OMIM:618797 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
| Hereditary Acrokeratotic Poikiloderma |
|
Gingival bleeding, Abnormality of the dentition, Xerostomia, Oral leukoplakia, Open bite, Ankylog... |
ORPHA:2907 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Downturned corners of mouth, Protruding tongue, Ever... |
ORPHA:96147 |
| Doors Syndrome |
|
Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal ... |
ORPHA:79500 |
| Angelman Syndrome |
|
Macroglossia, Wide mouth, Protruding tongue, Widely spaced teeth |
OMIM:105830 |
| Rabson-Mendenhall Syndrome |
|
Abnormality of the dentition, Dental crowding, Cardiomyopathy, Furrowed tongue, Gingival overgrow... |
ORPHA:769 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... |
OMIM:205100 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... |
ORPHA:352665 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi... |
ORPHA:1507 |
| Tarp Syndrome |
|
Optic atrophy, Extramedullary hematopoiesis, Alveolar ridge overgrowth, Abnormal duodenum morphol... |
ORPHA:2886 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Cleft palate |
ORPHA:436003 |
| Kawasaki Disease |
|
Vasculitis, Strawberry tongue, Hepatitis, Congestive heart failure, Lip fissure, Leukocytosis, Ch... |
ORPHA:2331 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Orofaciodigital Syndrome Xiv |
|
Cleft lip, Natal tooth, Occipital encephalocele, Anteriorly placed anus, Optic disc coloboma, Ham... |
OMIM:615948 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia, Exaggerated startle response |
OMIM:617864 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High, narrow palate, Pigmentary retinopathy, Protruding tongue, Intrahepatic biliary dysgenesis, ... |
OMIM:214100 |
| Ring Chromosome 22 Syndrome |
|
Protruding tongue, Thick vermilion border |
ORPHA:1446 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Sparse... |
ORPHA:3472 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc... |
OMIM:608670 |
| Fructose Intolerance, Hereditary |
|
Hyperbilirubinemia, Hyperuricemia, Lethargy, Hypophosphatemia, Bicarbonaturia |
OMIM:229600 |
| Marshall-Smith Syndrome |
|
Eclabion, Optic nerve hypoplasia, Anteriorly placed anus, Gingival overgrowth, Irregular dentitio... |
OMIM:602535 |
| Au-Kline Syndrome |
|
Bifid uvula, Dental malocclusion, Downturned corners of mouth, Open mouth, Oligodontia, Lipomyelo... |
OMIM:616580 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:99880 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of the dentition, Natal tooth, Abdominal situs inversus, Congest... |
ORPHA:2108 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Diastema, Thick lower lip vermilion, Protruding tongue, Hypochromic microcytic an... |
OMIM:301040 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Gingival overgrowth, Protruding tongue, Long philtrum |
OMIM:619179 |
| Parathyroid Carcinoma |
|
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:143 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, High palate |
OMIM:617804 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Hyperprolinemia, Optic atrophy, Hyperalaninemia, Exaggerated startle response |
OMIM:620451 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Microcytic anemia, Gingival overgrowth, Leukocytosis, Protruding tongue, Anemia, Deep philtrum, L... |
ORPHA:99843 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Open mouth, Narrow mouth, Thin uppe... |
OMIM:616078 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cardiomyopathy, Reduced left ventricular ejection fraction, Open mouth, Protruding tongue, Arrhyt... |
ORPHA:258 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... |
ORPHA:3337 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Mend Syndrome |
|
Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials |
ORPHA:401973 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Narrow palate, Microglossia, Dental crowding, Downturned corners of mouth, Long philtrum, Tooth a... |
OMIM:268310 |
| Slc35A2-Cdg |
|
Abnormal midbrain morphology, Increased circulating thyroglobulin concentration, Atrophy/Degenera... |
ORPHA:356961 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs... |
OMIM:149730 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Exaggerated startle response |
OMIM:617301 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Carious teeth, Dilated cardiomyopathy, Anal fissure, Esophageal stricture, Ankyloglossia, Narrow ... |
ORPHA:89842 |
| Smith-Lemli-Opitz Syndrome |
|
Optic atrophy, Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Ab... |
ORPHA:818 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Retinal detachment, Cleft palate |
ORPHA:94068 |
| Angelman Syndrome |
|
Optic atrophy, Widely spaced teeth, Protruding tongue, Optic disc pallor, Wide mouth |
ORPHA:72 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Tricuspid regurgitat... |
OMIM:263520 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Pachyonychia Congenita 3 |
|
Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip |
OMIM:615726 |
| Singleton-Merten Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, High anterior hairline, Eruption failure, Hypoplastic d... |
OMIM:182250 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Furrowed tongue, Oral leukoplakia, Microdontia |
OMIM:148210 |
| Robinow Syndrome |
|
Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Ankyloglossia, Persistenc... |
ORPHA:97360 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Anal atresia, Cleft p... |
OMIM:613091 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Abnormal tongue morphology, Ganglioneuromatosis, Palpitations, Hypertension ... |
ORPHA:653 |
| Ritscher-Schinzel Syndrome 2 |
|
Short philtrum, High palate, Intestinal malrotation, Protruding tongue |
OMIM:300963 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Degeneration of anter... |
ORPHA:276244 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, Exaggerated startle response |
OMIM:617281 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil... |
OMIM:180700 |
| Sandhoff Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:268800 |
| Asparagine Synthetase Deficiency |
|
Optic nerve hypoplasia, Hypoasparaginemia, Tremor, Exaggerated startle response |
OMIM:615574 |
| Chand Syndrome |
|
Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla... |
ORPHA:1401 |
| Stuve-Wiedemann Syndrome 1 |
|
Carious teeth, Smooth tongue, Pursed lips, Pulmonary arterial hypertension, Abnormal autonomic ne... |
OMIM:601559 |
| Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Accessory spleen, Natal tooth, Occipital encephalocele,... |
OMIM:249000 |
| Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
| Stickler Syndrome |
|
Bifid uvula, Long philtrum, Cleft upper lip, Open bite, Abnormal dental enamel morphology, Tooth ... |
ORPHA:828 |
| Kinsship Syndrome |
|
Downturned corners of mouth, Thick lower lip vermilion, Widely spaced teeth, Ankyloglossia, Gingi... |
OMIM:619297 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Glucagonoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Acanthocytosis, Neoplasm of the pancreas, ... |
ORPHA:97280 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Carious teeth, Long philtrum, Widely spaced teeth, Thick lower lip vermilion... |
OMIM:615873 |
| 1Q21.1 Microdeletion Syndrome |
|
Ankyloglossia, High palate, Hydrocephalus, Long philtrum |
ORPHA:250989 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad alveolar ridges, Optic atrophy, Cleft lip, Annular pancreas, Furrowed tongue, Smooth philtr... |
OMIM:616975 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnormal tongue mo... |
ORPHA:158668 |
| Peters-Plus Syndrome |
|
Facial hypertrichosis, Micrognathia, Short lingual frenulum, Limited elbow movement, Short foot, ... |
OMIM:261540 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate... |
OMIM:117650 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Aortic regurgitation, Ankyloglossia, Narrow mouth, Thin upper lip vermilion,... |
ORPHA:261330 |
| Autosomal Dominant Robinow Syndrome |
|
High, narrow palate, Downturned corners of mouth, Long philtrum, Open bite, Gingival overgrowth, ... |
ORPHA:3107 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level |
ORPHA:90795 |
| Cousin Syndrome |
|
Hydranencephaly, Microglossia, Alveolar ridge overgrowth, Hydrocephalus, Cleft palate |
OMIM:260660 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De... |
ORPHA:90793 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Cleft soft palate, Increased overb... |
OMIM:620450 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Exaggerated startle response |
OMIM:617527 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response |
OMIM:620423 |
| Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:79255 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue |
OMIM:619580 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Downturned corners of mouth, Ankyloglossia, Rod-cone dystrophy, Cleft palate |
ORPHA:488642 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Eclabion, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, C... |
OMIM:619950 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level |
OMIM:202010 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Bifid uvula, Microglossia, Dental crowding, Long philtrum, Intestinal ... |
OMIM:270400 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Enamel hypoplasia, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
| Microsporidiosis |
|
Brain abscess, Hepatitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... |
ORPHA:2552 |
| Orofaciodigital Syndrome Type 14 |
|
Retinal coloboma, Hamartoma of tongue, Accessory oral frenulum, Aplasia of the epiglottis, Bifid ... |
ORPHA:434179 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Optic disc coloboma, Ankylo... |
OMIM:620186 |
| Opitz Gbbb Syndrome |
|
Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Hypodontia, Ectopic anus, Anal atresia, Tra... |
ORPHA:2745 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Confusion, Abnormal pons mor... |
ORPHA:68 |
| Developmental And Epileptic Encephalopathy 100 |
|
Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Microdontia, Enamel hypoplasi... |
OMIM:619777 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Carious teeth, Natal tooth, Broad thumb, Micrognathia, High palate, Syndactyly, Avascular necrosi... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Carious teeth, Natal tooth, Broad thumb, Micrognathia, High palate, Syndactyly, Avascular necrosi... |
ORPHA:353277 |
| Pallister-Hall Syndrome |
|
Microglossia, Natal tooth, Cleft upper lip, Anteriorly placed anus, Anal atresia, Holoprosencepha... |
OMIM:146510 |
| Distal Deletion 12Q |
|
High, narrow palate, Microglossia, Annular pancreas, Long philtrum, Biliary atresia, Median cleft... |
ORPHA:96149 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ankyloglossia, Short lingual frenulum, Narrow mouth, Mitral regurgitation,... |
ORPHA:740 |
| Catel-Manzke Syndrome |
|
Bifid uvula, Cleft upper lip, Narrow mouth, High palate, Glossoptosis, Cleft palate, Pierre-Robin... |
OMIM:616145 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Downturned corners of mouth, Long philtrum, Congestive heart failure, Thin upper lip vermilion, P... |
ORPHA:444077 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Aortic regurgitation, Elevated circulating hepatic transaminase concentratio... |
OMIM:619475 |
| Degcags Syndrome |
|
Cholestasis, Hepatosplenomegaly, Pancytopenia, Protruding tongue, Abnormal spleen morphology, Hep... |
OMIM:619488 |
| Distal Deletion 15Q |
|
Abnormality of the dentition, Mitral stenosis, Thin upper lip vermilion, Bifid tongue, Short phil... |
ORPHA:1596 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of the dentition, Microglossia, Anteriorly placed anus, Enamel hypoplasia, Spina bifi... |
OMIM:151050 |
| Cowden Syndrome |
|
Furrowed tongue, Colorectal polyposis, Macroglossia, High palate, Hamartomatous polyposis, Mucosa... |
ORPHA:201 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Microcyt... |
OMIM:619525 |
| Down Syndrome |
|
Duodenal stenosis, Protruding tongue, Acute megakaryocytic leukemia, Aganglionic megacolon, Macro... |
OMIM:190685 |
| Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Encephalocele, Congenital stationary night blindness |
ORPHA:314621 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Optic atrophy, Thick lower lip vermilion, Wide mouth, Open mouth, Protruding tongue, Tented upper... |
OMIM:309580 |
| Fontaine Progeroid Syndrome |
|
High, narrow palate, Long philtrum, Anteriorly placed anus, Tricuspid regurgitation, Narrow mouth... |
OMIM:612289 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Epistaxis, Widely spaced teeth, Ankyloglossia, Communicating hydrocephalus, Thin upper lip vermil... |
OMIM:619841 |
| Achondrogenesis, Type Ia |
|
Protruding tongue |
OMIM:200600 |
| Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,... |
ORPHA:798 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Carious teeth, Dilated cardiomyopathy, Anal fissure, Ankyloglossia, Erosion of oral mucosa, Narro... |
ORPHA:79408 |
| Plague |
|
Inflammation of the large intestine, Hypotension, Chapped lip, Splenomegaly, Ileitis, Arrhythmia,... |
ORPHA:707 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Arrhythmia, Hepatoblastoma, Hepatomegaly, Anal atresia, Cleft p... |
OMIM:312870 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, High palate, Protruding tongue |
OMIM:617062 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Anal stenosis, Exaggerated median tongue furrow, Downturned corners of mou... |
ORPHA:2729 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Protruding tongue, Long philtrum |
ORPHA:50945 |
| Fraser Syndrome |
|
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Myelomeningocele, Encephalo... |
ORPHA:2052 |
| Viss Syndrome |
|
High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Intestinal malrotation, Chronic ga... |
OMIM:619472 |
| Stüve-Wiedemann Syndrome |
|
Abnormality of the dentition, Smooth tongue, Abnormal autonomic nervous system physiology |
ORPHA:3206 |
| Norrie Disease |
|
Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Sensorineural hearing impair... |
ORPHA:649 |
| Bilateral Perisylvian Polymicrogyria |
|
Facial diplegia, Protruding tongue |
ORPHA:98889 |
| Neuroocular Syndrome 1 |
|
Short uvula, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, Submucous cleft har... |
OMIM:619539 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Long philtrum, Cleft upper lip, Congenital hepatic fibrosis, Ectopic anus, Esophageal atresia, Bi... |
ORPHA:93271 |
| Carney Complex |
|
Congestive heart failure, Abnormal hard palate morphology, Neoplasm of the pancreas, Esophageal n... |
ORPHA:1359 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Dystonia, Decreased circulating iron concentration, Exaggerated startle response |
ORPHA:438213 |
| Pallister-Hall Syndrome |
|
Bifid uvula, Cleft lip, Natal tooth, Microglossia, Anal atresia, Holoprosencephaly, Cleft palate,... |
ORPHA:672 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s... |
OMIM:201750 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Abnormal autonomic nervous system physiology |
ORPHA:293987 |
| Microphthalmia, Syndromic 6 |
|
Bifid uvula, Microglossia, Retinal dystrophy, High palate, Cleft palate |
OMIM:607932 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
