Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
Deafness, Autosomal Dominant 65 |
|
Abnormal vestibular function, Progressive hearing impairment |
OMIM:616044 |
Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Ataxia-Deafness-Retardation Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia |
OMIM:208850 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Usher Syndrome, Type Id |
|
Abnormal vestibular function, Hearing impairment |
OMIM:601067 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language |
|
Hearing impairment, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:620038 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber... |
OMIM:616515 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment, Ataxia |
OMIM:212850 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment |
OMIM:600965 |
Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment |
OMIM:618013 |
Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Babinski sign, ... |
ORPHA:101007 |
Episodic Ataxia Type 5 |
|
Vertigo, Ataxia, Truncal ataxia |
ORPHA:211067 |
Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:136600 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Adult onset sensorineural hearing impairment, Distal sensory impairment |
OMIM:212710 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Vertigo, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus, Hearing impairment |
OMIM:159800 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Involuntary movements, Aggressive behavior, EEG abnormality, Agitation, Emotional lability, Abnor... |
OMIM:617171 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal py... |
ORPHA:216873 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Ataxia |
OMIM:208750 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... |
OMIM:128235 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Deafness, Autosomal Recessive 12 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment |
OMIM:601386 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... |
ORPHA:401901 |
Spinocerebellar Ataxia 31 |
|
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... |
OMIM:616269 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... |
ORPHA:85292 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, EEG abnormality, Truncal ataxia, Abnormal repetitive manneri... |
OMIM:608636 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Constipation, Gait disturbance... |
OMIM:616710 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic je... |
ORPHA:308 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Falls, Inappropriate laughter, D... |
OMIM:619150 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia, Vertigo, Irritability, Vomiting |
ORPHA:71518 |
Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior, Low-set ears |
ORPHA:436151 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor, Hearing impairment |
ORPHA:217012 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired proprioception, Impaired v... |
ORPHA:251282 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intermittent diarrhea, Hearing... |
OMIM:620270 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin... |
ORPHA:2589 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Sple... |
OMIM:612526 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Sandhoff Disease, Adult Form |
|
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity |
ORPHA:309169 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Brunner Syndrome |
|
Kinetic tremor, Impulsivity, Aggressive behavior, Diarrhea, Self-injurious behavior, Low frustrat... |
OMIM:300615 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Head tremor, Self-biting |
OMIM:619988 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... |
ORPHA:210571 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Ataxia, Elevated plasma ... |
ORPHA:3008 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Myoclonus, Difficulty walking, Attention deficit hyperactivity dis... |
OMIM:619191 |
Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, ... |
ORPHA:71517 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Dysphagia, ... |
OMIM:619565 |
Ravine Syndrome |
|
Spasticity, Ataxia, Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, De... |
OMIM:603218 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia |
OMIM:615361 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria... |
ORPHA:275864 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Loss of ambulati... |
ORPHA:206443 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... |
OMIM:617820 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... |
ORPHA:52368 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait dist... |
ORPHA:363710 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... |
OMIM:619470 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls |
ORPHA:79136 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo, Abnormal pyramidal... |
ORPHA:101110 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia |
OMIM:617830 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia, Hearing impairment |
ORPHA:1186 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred spe... |
ORPHA:157941 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... |
OMIM:618093 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Bradykinesia, Ankle clonus, Hy... |
OMIM:617435 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Tremor, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... |
OMIM:302500 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Ataxia, Dementia, Myoclonus, Interictal epileptiform activity,... |
OMIM:254800 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:239500 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... |
ORPHA:240085 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hearing impairment, Aggressive behavior |
OMIM:248510 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Frequent falls, Tinnitus |
OMIM:617691 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... |
ORPHA:240103 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... |
ORPHA:94093 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di... |
ORPHA:98764 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... |
OMIM:609425 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... |
OMIM:600795 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping |
OMIM:300624 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Spinocerebellar Ataxia 13 |
|
Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, Limb ataxia, Gait at... |
OMIM:605259 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive manner... |
OMIM:618718 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia |
ORPHA:228169 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Dysphagia, Up... |
ORPHA:276435 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Abnormal amplitude of pattern reversa... |
OMIM:125250 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasti... |
OMIM:615924 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia, Neutropenia |
OMIM:616949 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Gastroesophageal reflux, Difficulty walking, Spasticity, Abnormal repetitive manner... |
OMIM:617393 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia... |
ORPHA:1368 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Choreoathetosi... |
ORPHA:98811 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... |
ORPHA:101109 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... |
OMIM:615362 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype... |
OMIM:619738 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Sp... |
OMIM:615157 |
Huntington Disease-Like 3 |
|
Psychomotor deterioration, Abnormal head movements, Broad-based gait, Extrapyramidal muscular rig... |
ORPHA:157946 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... |
OMIM:606159 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand wringing |
OMIM:618760 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking |
OMIM:615048 |
Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Waddling gait, Tremor, Inability to walk, Sensor... |
ORPHA:2590 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis... |
OMIM:616291 |
Intermediate Osteopetrosis |
|
Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Hypocalcemia, Abnorma... |
ORPHA:210110 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... |
OMIM:619028 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... |
ORPHA:231169 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Vertigo, Chorea, Hand tremor, Depression, Athetosis, Motor tics |
OMIM:615483 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Depression, Constipation, Gastroesophageal reflux, Progressive sp... |
DECIPHER:45 |
Deafness, Autosomal Dominant 41 |
|
Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Gastroesophageal reflux, Myo... |
OMIM:618497 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hearing impairment |
OMIM:312910 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin... |
ORPHA:3095 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi... |
OMIM:617145 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Macrotia, Impaired social interactions, Stereotypical hand wringing |
ORPHA:397933 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bradykinesia, Ankle cl... |
ORPHA:521406 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Foxg1 Syndrome |
|
Dystonia, Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Constipation, Gast... |
ORPHA:561854 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Bowel incontinence, Vertigo, Babinski sign, Limb myoclonus, Truncal ataxia, Dysmetria, Li... |
ORPHA:276198 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... |
ORPHA:454887 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Bowel incontinence, Action tremor, Dysmetria, Gait... |
OMIM:300623 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... |
OMIM:616795 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Polydipsia, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Polydipsia, Hypernatremia |
OMIM:304800 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Parkinsonism, Confusion, Aggressive behavior, Rigidity, Chorea, Dysmetr... |
OMIM:607136 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:85297 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Oculogyric crisis, Inability to walk, Chorea, Bruxism, Self-injurious behavior, Hyperkinetic move... |
OMIM:614254 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Hearing impairment |
ORPHA:101075 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hypocalcemia, Gait distu... |
ORPHA:93160 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic movements, Dysphagia, Let... |
OMIM:233910 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Disinhibition, Dysphagia, Emotional lability, Spasticity, Abnormal repetitive mann... |
OMIM:612069 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Chronic constipation, Abnormal repetitive mannerisms, Attention deficit hyperacti... |
OMIM:618906 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... |
OMIM:613845 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:617916 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-injurious behav... |
OMIM:617695 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Babinski sign, Vestibular areflexia, Optic atrophy, Dysmetria, ... |
ORPHA:504476 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment |
OMIM:165300 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
Manganese Poisoning |
|
Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, ... |
ORPHA:306682 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... |
ORPHA:206448 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Hearing impairment |
ORPHA:101078 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia |
ORPHA:306669 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnorma... |
ORPHA:100924 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... |
ORPHA:391417 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... |
OMIM:615528 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Hypernatremia, Anorexia |
ORPHA:223 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Difficulty walkin... |
OMIM:600081 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm... |
OMIM:603516 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Irritability, Hy... |
OMIM:261640 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypocalcemic tetany... |
ORPHA:36913 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... |
OMIM:617225 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia... |
ORPHA:94090 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Cachexia, Hypokalemia, Paresthesia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Sensorineural hearing impairment, Babinski sign, Dysmetria, ... |
OMIM:302800 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Truncal ataxia, Dysphagia, Dysmetria, Ga... |
OMIM:601338 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia |
OMIM:605909 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesi... |
OMIM:607483 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity |
OMIM:613402 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Truncal ataxia, Dysmetria, Chronic constipation, Ga... |
OMIM:210000 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemia, Hypocalcemi... |
OMIM:259700 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... |
ORPHA:93324 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia,... |
OMIM:264700 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcem... |
OMIM:212750 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Myoclonus, Low-set ears, Overfolded h... |
OMIM:619092 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... |
OMIM:616881 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Constipation,... |
OMIM:168600 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Obsessive-... |
OMIM:617665 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi... |
OMIM:610185 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Generalized osteosclerosis, Hypocalcemia, Anemia |
ORPHA:53 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Babinski sign, Spastic dysarthria, Difficulty walking, Dystonia, Spasticity, Abnor... |
ORPHA:280763 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Weight loss, Anemia, Hypocalcemia, Neut... |
ORPHA:47 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Restless legs, Somatic sensory... |
ORPHA:101085 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Spinocerebellar atrophy, Head tremor, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive |
ORPHA:178029 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Steppage gait, Hypertonia, Spasticity, Hearing impairment |
OMIM:609260 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr... |
OMIM:137440 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Gastroparesis, Parkinsonism, Bowel incontinence, Tremor, Inability to walk, Rigidity, H... |
OMIM:618877 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy |
OMIM:619690 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... |
ORPHA:227510 |
Hijazi-Reis Syndrome |
|
Lower limb spasticity, Ankle clonus, Chronic constipation, Gastroesophageal reflux, Gait disturba... |
OMIM:301094 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... |
OMIM:619317 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... |
OMIM:620021 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Depression, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Macrotia, Ab... |
ORPHA:457240 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Ataxia, Dystonia |
ORPHA:163921 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Bilateral sensorineural hearing impairment, D... |
OMIM:619422 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Inappropriate behavior, Disin... |
OMIM:168605 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Bruxism |
OMIM:300434 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Paresthesia, Hyp... |
OMIM:601198 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... |
ORPHA:139485 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia |
OMIM:244460 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae,... |
ORPHA:289157 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... |
ORPHA:79263 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemi... |
ORPHA:199299 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Alg8-Cdg |
|
Hyponatremia, Abnormality of subcutaneous fat tissue, Ataxia, Small for gestational age, Anemia, ... |
ORPHA:79325 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Diarrhea, Babinski sign, Tongue thr... |
OMIM:608643 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... |
OMIM:617013 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia |
OMIM:618141 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Gait disturbance, Hearing impairment |
ORPHA:99014 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
Mepan Syndrome |
|
Axial dystonia, Limb dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Dysphagia, Gait distu... |
ORPHA:508093 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low... |
OMIM:618342 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Inapprop... |
OMIM:618476 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Thrombocytopenia, Radial club hand, Hyperkalemia, Leukopenia, Decreas... |
OMIM:617053 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity |
OMIM:213200 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Paresthesia,... |
ORPHA:94089 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
OMIM:603553 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal flash visual evoked potentials, Postural tremor, Chorea, Optic atrophy, Impaired proprio... |
ORPHA:98755 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation |
OMIM:615010 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spastic paraparesis |
ORPHA:101077 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Depression, Bradykinesia, Irritability, Dystonia, Action tremor |
OMIM:606438 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia |
OMIM:612462 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... |
OMIM:312080 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Thrombocytopenia, Leu... |
OMIM:259720 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait |
OMIM:600363 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
Webb-Dattani Syndrome |
|
Hypernatremia, Obesity |
OMIM:615926 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... |
ORPHA:1667 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc... |
ORPHA:216866 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Dysphagia, Myoclonus, Tongue fasciculations, Difficulty walking, Frequent falls |
OMIM:159950 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:90362 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shu... |
OMIM:168601 |
Spinocerebellar Ataxia 6 |
|
Incoordination, Ataxia, Vertigo, Slurred speech, Truncal ataxia, Dysmetria, Progressive cerebella... |
OMIM:183086 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Poor coordination, Obsessive-compulsiv... |
ORPHA:544254 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate... |
OMIM:614104 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Bowel incontinence, Rigidity, Babinski sign, Hand tremor, Bradykinesia, G... |
ORPHA:289560 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait |
OMIM:618387 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, ... |
ORPHA:683 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... |
OMIM:619381 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... |
OMIM:619580 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Christianson Syndrome |
|
Dystonia, Inappropriate laughter, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
ORPHA:85278 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia |
OMIM:612126 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... |
ORPHA:391673 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Young-Onset Parkinson Disease |
|
Restless legs, Gastroparesis, Impulsivity, Tremor, Rigidity, Diarrhea, Depression, Bradykinesia, ... |
ORPHA:2828 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Limb fasciculations, Dysphagia |
ORPHA:90117 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures |
ORPHA:199296 |
Piebald Trait With Neurologic Defects |
|
Ataxia, Hearing impairment |
OMIM:172850 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... |
ORPHA:94086 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears |
ORPHA:477673 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Ataxia, Rigidity, Inability to walk, Chorea, Repetitive compulsive behavio... |
OMIM:300260 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Hypertonia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Sensorineural hearing impairment, Steppage gait, Gait disturbance |
OMIM:118300 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Unsteady gait... |
ORPHA:1947 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Depression, Myoc... |
ORPHA:79264 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... |
OMIM:245348 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Diarrhea, Paraplegia, Emotional lability, Vomiting, Agitation, Lethargy, Abnormal repetit... |
ORPHA:927 |
Whipple Disease |
|
Hyponatremia, Ataxia, Anorexia, Cachexia, Splenomegaly, Insulin resistance, Polydipsia, Anemia |
ORPHA:3452 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia, Anemia |
ORPHA:2668 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, EEG with generalized slow activity, Ataxia, EEG with spike-wave complexes, Aggress... |
ORPHA:168491 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... |
OMIM:614298 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Sensorineural hearing impairment |
OMIM:609924 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My... |
ORPHA:254881 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotional lability, Spasticity |
ORPHA:542310 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Rigidity, Tremor, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment |
ORPHA:369939 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia |
ORPHA:330050 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... |
ORPHA:352490 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet craving, Slurred ... |
ORPHA:33543 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Dysphagia, Conductive hearing impairment |
OMIM:619473 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Shuffli... |
ORPHA:75567 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Gait disturbance, Low-set ears,... |
ORPHA:2971 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Paresthesia, Hypocalcemia... |
ORPHA:79444 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Enamel hypoplasia, Hypocalcemia |
ORPHA:557003 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Choreoathetosi... |
ORPHA:79443 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Hyperhomocystinemia, Normochromic ane... |
OMIM:614857 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Abnormality of visual ... |
OMIM:256600 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... |
ORPHA:157846 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe |
OMIM:300143 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... |
ORPHA:98808 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Canavan Disease |
|
Abnormality of visual evoked potentials, EEG abnormality, Optic atrophy, Hearing impairment |
ORPHA:141 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa... |
OMIM:300894 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... |
ORPHA:37042 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Inability to walk, Hypokalemia, Hypocalcemia,... |
OMIM:617913 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... |
OMIM:183090 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Shyness, Macrotia, Self-injurious behavior, Abnormal temper t... |
ORPHA:449291 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
ORPHA:457260 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Hemiparesis, Self-injurious behavior, Dy... |
OMIM:618004 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Dystonia, Dysphagia |
OMIM:304700 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Clumsiness, Poor fine motor... |
ORPHA:137898 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia |
ORPHA:746 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder, EEG with spike-wave comp... |
ORPHA:64280 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Loss of ambulatio... |
OMIM:607694 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia, Atypical scarring of skin |
ORPHA:79273 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Gracile Bone Dysplasia |
|
Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Increased theta frequency activity in EEG, Depression, EEG with focal spik... |
ORPHA:98784 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Inability to walk, Multifocal epileptiform discharges, Hypsarrhythmia, Large... |
ORPHA:411986 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, Irritability, Constipatio... |
OMIM:613454 |
Hypophosphatasia |
|
Craniosynostosis, Failure to thrive in infancy, Hypercalcemia, Anemia |
ORPHA:436 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Constipation, Abnormal repetitive man... |
ORPHA:228402 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Depression, Bradykinesia... |
ORPHA:411602 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Constipation, Action tremor |
OMIM:231950 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Snakebite Envenomation |
|
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia, Thrombocytopenia |
ORPHA:449285 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... |
ORPHA:247234 |
Legionnaires Disease |
|
Hyponatremia, Ataxia, Anorexia, Splenomegaly, Cellulitis, Lymphopenia |
ORPHA:549 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the outer ear, Self hugging, Head-banging, Onychotillomania, Abnorm... |
OMIM:182290 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia, Abnormality of visual evoked ... |
ORPHA:702 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Blepharospasm, Hyperkinetic mo... |
ORPHA:93958 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Craniosynostosis, Decreased calvarial oss... |
OMIM:241500 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys... |
ORPHA:251061 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ... |
OMIM:617807 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... |
OMIM:127000 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity... |
OMIM:619556 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... |
OMIM:300438 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... |
OMIM:600430 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Macrotia, Abnormal repetitiv... |
ORPHA:391307 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemi... |
ORPHA:95409 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Failure to thrive, Hypoglycemia, Hypocalcemia |
OMIM:607143 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Unsteady gait, Pica, Constipation, Low-set ears, Spasticity, Recurrent hand flapping, Limb hypert... |
OMIM:618480 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Optic atrophy, Abnormal temper tantrums, Abnormal social behavior, Abnormal repeti... |
ORPHA:530983 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Failure to thrive, Salt craving, Hypoglycemia, Hypercalcemia, An... |
ORPHA:85138 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Tremor, Rigidity, Gait disturbance, Episodic vomiting |
OMIM:603472 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia, Abnormality of vis... |
ORPHA:1933 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of ... |
ORPHA:289494 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Ataxia, Small for gestational age, Hypomagnesem... |
ORPHA:699 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Gait disturbance, Inappropriate laughter, Difficulty walking, Bruxism, S... |
ORPHA:505652 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:613090 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, D... |
ORPHA:778 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss |
ORPHA:69077 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Macrotia, Low-set ears |
ORPHA:276432 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Progressive language deterioration, ... |
OMIM:610042 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Gait disturbance, Abnormal auto... |
ORPHA:35069 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Abscess, Anorexia, Failure to thrive in infancy, Leukocytosis, Abnorm... |
ORPHA:810 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Spinocerebellar Ataxia Type 42 |
|
Resting tremor, Upper limb postural tremor, Vertigo, Unsteady gait, Babinski sign, Gait ataxia, D... |
ORPHA:458803 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypocalcemia |
OMIM:618440 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:264350 |
Riboflavin Transporter Deficiency |
|
Ataxia, Aggressive behavior, Tremor, Progressive hearing impairment, Myoclonus, Dysphagia |
ORPHA:97229 |
Cystinosis |
|
Rickets, Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabetes mellitus, Polydipsia, F... |
ORPHA:213 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... |
OMIM:601678 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... |
ORPHA:36387 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... |
OMIM:619260 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Failure to thrive, Anemia |
ORPHA:97362 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Hypocalcemia |
ORPHA:2238 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Dystonia, Aggressive behavior, Ileus, Underfolded superior heli... |
OMIM:300352 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Impaired pain sensation, Cryptorchidism, Bulimia, Hypsarrhythmia, Anterior cre... |
ORPHA:314389 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Hypertonia, Const... |
OMIM:617865 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Pancytopenia, Inguinal hernia, Hypoglycemia, Thin bony cortex, Small for gestational ... |
OMIM:613658 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Poor coordination, Constipa... |
OMIM:618430 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... |
OMIM:261600 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Ketotic hypoglycemia, Anorexia, Hyperkalemia, Hypoglycemic seizures, Weight loss, F... |
ORPHA:361 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Insulin resistance, Hypermagnesemia, Iron deficiency anemia, Hyp... |
ORPHA:358 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Aggressive behavior, Agitation, Macrotia |
OMIM:300558 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... |
ORPHA:208447 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait ... |
OMIM:617302 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Tremor, Inability to walk, Choreoathetosis, Constipation, Gastroesophageal reflux, Dysp... |
OMIM:617664 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... |
ORPHA:2388 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:238750 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Spontaneous Periodic Hypothermia |
|
Tremor, Diarrhea, Ataxia, Gait disturbance |
ORPHA:29822 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Brain atrophy, Hearing impairment |
OMIM:620114 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Cons... |
ORPHA:98794 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadoch... |
OMIM:277460 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating crea... |
ORPHA:36234 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
Fg Syndrome 3 |
|
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment |
OMIM:300406 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Compulsive... |
ORPHA:401777 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-bitin... |
ORPHA:3306 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a... |
OMIM:229300 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Reduced bone mineral density, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypom... |
ORPHA:428 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Dysphoria, Poor coordination, Depression, Poor fine motor coo... |
OMIM:620242 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Chronic constipation, Self-injurious behavior, Hypertonia, Gait dist... |
OMIM:300986 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... |
ORPHA:363400 |
48,Xxyy Syndrome |
|
Ataxia, Tremor, Depression, Constipation, Gastroesophageal reflux, Attention deficit hyperactivit... |
ORPHA:10 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Bradykinesia, Titubat... |
ORPHA:225147 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... |
ORPHA:231222 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... |
ORPHA:397612 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... |
OMIM:616393 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Sensorineural hearing impairment, Depression, Hyperkinetic movements, Gait disturbance, S... |
OMIM:300957 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch... |
OMIM:241200 |
Potocki-Lupski Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hearing impairment |
OMIM:610883 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Abnormal dental enamel morphology, Hypercalcemia, Craniosynostosis, Obesity, ... |
ORPHA:251004 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
Alg12-Cdg |
|
Hyponatremia, Abnormal bone ossification, Recurrent hypoglycemia, Camptodactyly, B lymphocytopeni... |
ORPHA:79324 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Brain atrophy, Cerebral cortical atroph... |
OMIM:620327 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Porphyria Variegata |
|
Hyponatremia, Somatic sensory dysfunction, Scarring, Abnormal circulating porphyrin concentration... |
ORPHA:79473 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, EEG ... |
OMIM:245200 |
Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Protruding ear, Irritability, Hyperto... |
ORPHA:447997 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit ... |
ORPHA:476126 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... |
OMIM:606324 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance |
ORPHA:1192 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Infantile Krabbe Disease |
|
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Lower limb spasticity,... |
ORPHA:206436 |
Trisomy X |
|
Tremor, Attention deficit hyperactivity disorder, Depression |
ORPHA:3375 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Hypophosphatemia, Chondrocalcinosis, Generalized osteoporosis |
ORPHA:99879 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... |
OMIM:619121 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, L... |
OMIM:123450 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Dystonia, Gait disturbance, Agitation, Bruxism, Recurrent hand flapping |
OMIM:617903 |
Rett Syndrome |
|
Dystonia, Gait apraxia, Bruxism, Gait ataxia, Constipation, Gastroesophageal reflux, Truncal atax... |
OMIM:312750 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Constipation, Gastroesophageal r... |
OMIM:619312 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... |
OMIM:617751 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Bilateral conductive hearing impairment, Interictal epileptiform activity, Low... |
OMIM:617802 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxia, Truncal ataxia, L... |
OMIM:208920 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:300958 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Inguinal hernia, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia, Failure to thrive |
OMIM:602522 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu... |
ORPHA:845 |
22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
ORPHA:1727 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Chronic constipation, ... |
OMIM:618060 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Anorexia, Tremor, Elbow flexion contracture, Opisthotonus, Choreoathe... |
ORPHA:79139 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Hypocalcemic tetany, Enamel ... |
OMIM:103580 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... |
OMIM:614381 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Diabetes mellitus, Antalgic gait, Hypercalcemia, Osteomalacia, Fibrous dysplasi... |
ORPHA:249 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Bowel incontinence, Tremor, Addictive behavior, Tip-toe gait, Gait distur... |
ORPHA:512 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Diarrhea, Sensorineural hearing impairment, Abnormal pyramidal sign, Limb ataxia,... |
OMIM:105210 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Low frustration tolerance, Spasticity, Macrotia, Abnormal repetitive ... |
OMIM:300486 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Crouzon Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment |
ORPHA:207 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617301 |
Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Osteopetrosis... |
ORPHA:667 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkale... |
ORPHA:293978 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Vertigo, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Nausea |
OMIM:602481 |
Hartsfield Syndrome |
|
Hypernatremia, Craniosynostosis |
OMIM:615465 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Decreased serum iron, Overweight, Repetitive compulsive behavior, Flexion cont... |
ORPHA:391372 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Impotence, Progressive hearing impairment, Disinhibition, Att... |
ORPHA:43 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Bilateral sensorineu... |
ORPHA:309263 |
Non-Functioning Paraganglioma |
|
Tremor, Hypercalcemia, Weight loss |
ORPHA:94080 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Dysphagia, Vocal cord paresis |
OMIM:619574 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Cerebrotendinous Xanthomatosis |
|
Abnormal pyramidal sign, Progressive psychomotor deterioration, Abnormal motor evoked potentials,... |
ORPHA:909 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Chronic constipation, Abnormal repetitive mannerisms, Ataxia, Head tremor |
OMIM:619428 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:544482 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention ... |
OMIM:617061 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Depression, Dysdiadochokinesis, Diffic... |
OMIM:617675 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe... |
OMIM:617710 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity di... |
OMIM:618205 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hea... |
OMIM:617796 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop... |
ORPHA:485421 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Pre... |
ORPHA:73272 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
Familial Dysautonomia |
|
Hyponatremia, Ataxia, Impaired pain sensation, Osteolysis, Gait disturbance |
ORPHA:1764 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Steppage gait, Hypertonia, Myoclonus, Inte... |
OMIM:616505 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Neonatal hypogl... |
ORPHA:90791 |
Infantile Myofibromatosis |
|
Bone cyst, Osteolysis, Hypercalcemia, Chondrocalcinosis |
ORPHA:2591 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst... |
ORPHA:261197 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrap... |
OMIM:615673 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Chorea, Athetosis, Dysphagia, Macrotia,... |
OMIM:619435 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... |
ORPHA:2785 |
Transketolase Deficiency |
|
Secondary amenorrhea, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsi... |
ORPHA:488618 |
Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Tremor, Diarrhea, Hypertonia, Constipation, Lethargy |
ORPHA:99745 |
Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
Ethylene Glycol Poisoning |
|
Addictive alcohol use, Hyperkalemia, Hypocalcemia, Ataxia |
ORPHA:31826 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Hypochromic microcytic anemia, Normochromic microcytic an... |
ORPHA:66634 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emotion, Attentio... |
ORPHA:1942 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,... |
OMIM:620330 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Neutropenia, Hypocalcemia, Abnormal bone ossification, Failure to ... |
ORPHA:175 |
Propionic Acidemia |
|
Pancytopenia, Dystonia, Hypoglycemia, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hyperglycin... |
OMIM:606054 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Hypoglycemia |
ORPHA:95613 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Impaired so... |
OMIM:300912 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Low-s... |
ORPHA:8 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Opisthotonus, Inappropriate laughter, Low-set ears, Self-muti... |
OMIM:103050 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ... |
ORPHA:89938 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Failure to thrive, Anemia |
OMIM:239200 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attention deficit hyperactiv... |
ORPHA:79254 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms, Anemia, Neutropenia |
OMIM:618067 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... |
OMIM:617101 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... |
ORPHA:500159 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Gorham-Stout Disease |
|
Torticollis, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Double Outlet Right Ventricle |
|
Failure to thrive, Hypocalcemia |
ORPHA:3426 |
Infant Botulism |
|
Hyponatremia, Anorexia, Dysphagia |
ORPHA:178478 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Sensorineural hearing impairment |
ORPHA:66633 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Bowel incontinence, Tremor, Depression, Fasciculations, Difficulty walking, Frequen... |
ORPHA:329478 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter, Decreased body we... |
OMIM:618347 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:252920 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Bilateral se... |
ORPHA:309271 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenom... |
OMIM:219800 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Cryptorchidism, Abnormal optic disc morphology, Low-set ears, Hearing impairment |
OMIM:617516 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Cryptorchidism, Chronic otitis media, Self-mutilation, Hearing impairment |
ORPHA:412035 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Macrotia, Cerebral cortical atrophy, EEG wi... |
OMIM:617864 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Sensorineural hearing impairment, Self-injurious behavior, Constipation, Limb ... |
ORPHA:457351 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Incoordination, Gait ataxia, Gastroesophageal reflux, Low-set ears, Abnormal repetitive mannerism... |
OMIM:616579 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Pseudob... |
OMIM:125310 |
Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... |
OMIM:601104 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Optic atrophy, Dystonic gait, EEG abnormality, Abnormality of visual e... |
ORPHA:480898 |
Distal Deletion 10Q |
|
Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, Protrudi... |
ORPHA:96148 |
Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia, Hypoglycemia, Obesity |
ORPHA:91355 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hip contracture, Osteopenia, Hypercalcemia, Knee flexion contracture, Hypophosphat... |
OMIM:156400 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Sensorineural hearing impairment |
OMIM:608747 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... |
ORPHA:990 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... |
OMIM:613174 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hyperammonemia,... |
OMIM:610505 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... |
ORPHA:72 |
Nipah Virus Disease |
|
Tremor, Vertigo, Myoclonus, Anorexia |
ORPHA:99825 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:168558 |
Velocardiofacial Syndrome |
|
Umbilical hernia, Inguinal hernia, Hypocalcemia, Aggressive behavior |
OMIM:192430 |
Holoprosencephaly |
|
Hyponatremia, Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Congeni... |
ORPHA:2162 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:289548 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti... |
OMIM:619293 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment, Aggressive behavior |
OMIM:615824 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Somatic sensory dysfunction, Tremor, Pseudobulbar paralysis |
ORPHA:79276 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Diarrhea, Chorea, Abnorm... |
ORPHA:2131 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive |
OMIM:300200 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Constipation, Gastroesophageal reflux, Myoclonus, Abnormal repetitive mannerisms |
OMIM:300672 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Dysphagia |
OMIM:313200 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Tremor, Cryptorchidism, Optic atrophy, Gait disturba... |
ORPHA:90321 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... |
ORPHA:275761 |
Panhypophysitis |
|
Hyponatremia, Polydipsia, Normochromic anemia |
ORPHA:95513 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Inability to walk, Sensorineural hearing impairment, Spastic tetrapl... |
ORPHA:300570 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive ... |
OMIM:616364 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Anemia, Hiatus hernia |
ORPHA:71272 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors, Mac... |
OMIM:615656 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Ataxia, Bowel incontinence, Tetraplegia, Chronic constipation, Fasciculations, Progress... |
ORPHA:496641 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... |
OMIM:619695 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... |
OMIM:619991 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Chronic diarrhea, Low frustration tolerance, Low-set ... |
ORPHA:457279 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Depression |
ORPHA:178509 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Dysphagia, Loss of ambulation, Right... |
OMIM:607426 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Sensorineural hearing impairment |
OMIM:609727 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity |
OMIM:620155 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Elevated hemoglobin A1c, Hypoglycemia, Dystonia, Type I diabetes mellitus |
OMIM:616113 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Xerostomia, Spastic paraplegia, ... |
OMIM:618527 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent temper tantrums, A... |
OMIM:619103 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Osteomalacia, An... |
ORPHA:534 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Posteriorly rotated ears, Ataxia, Tremor, Inability to walk, Constipation,... |
OMIM:619229 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... |
OMIM:609454 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty wa... |
OMIM:277440 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Diarrhea, Emotional lability, Irritability, Lethargy |
OMIM:201100 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Attention defi... |
OMIM:618195 |
Hennekam Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Splenomegaly, Hypocalcemia, Lymphopenia |
ORPHA:2136 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive, Neonatal hypoglycemia |
ORPHA:90794 |
Nmda Receptor Encephalitis |
|
Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, Diarrhea, Chorea, Opisthotonu... |
ORPHA:217253 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Hearing impairment |
OMIM:252900 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Impaired pain sensation, Hyperlipidemia, Hyperkalemia, Obesity... |
ORPHA:293987 |
Serotonin Syndrome |
|
Restlessness, Clonus, Tremor, Rigidity, Diarrhea, Irritability, Hypertonia, Agitation, Myoclonus,... |
ORPHA:43116 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... |
ORPHA:79330 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... |
ORPHA:29073 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... |
ORPHA:522077 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617527 |
Adenohypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95512 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hemolytic anemia, Hip contracture, Inguinal hernia, Broad-ba... |
OMIM:619503 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis |
OMIM:617186 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low frustration tolerance, Comp... |
ORPHA:646 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Ataxia, Anorexia, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Agitat... |
ORPHA:134 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal repetitive ma... |
ORPHA:2479 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, EEG abnormality, Self-injurious behavior, Gait disturbance, Attention de... |
ORPHA:819 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Compulsive behaviors, Abnormal re... |
OMIM:610253 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ata... |
OMIM:606002 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... |
ORPHA:411511 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, H... |
OMIM:212066 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Vertigo, Chorea, Athe... |
ORPHA:25 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... |
OMIM:617988 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor,... |
OMIM:619680 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Optic atrophy, Dystonia |
OMIM:616875 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemi... |
ORPHA:93325 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis |
OMIM:145981 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Splenomegaly, Obesity, Multiple suture cranio... |
ORPHA:567 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
Paget Disease Of Bone 2, Early-Onset |
|
Sclerosis of skull base, Osteolysis, Hypercalcemia, Osteosclerosis of the ulna |
OMIM:602080 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Abnormal repetitive mannerisms, Unsteady gait, Tongue thru... |
OMIM:606232 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Alexander Disease |
|
Ataxia, Clonus, Bowel incontinence, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depress... |
ORPHA:58 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Aggressive behavior, Tremor, Abnormal eating behavior, Diarrhea, Irr... |
ORPHA:247585 |
Hyperlysinemia |
|
Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... |
ORPHA:2203 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia, Weight loss |
ORPHA:97289 |
Joubert Syndrome 6 |
|
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Gastroparesis, Ataxia, Tremor, Rigidity, Gait ataxia, Bradykinesia, Cogwheel rigi... |
ORPHA:254892 |
3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Abnormality of the outer ear, A... |
ORPHA:435638 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Wolfram Syndrome 1 |
|
Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia |
OMIM:222300 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... |
ORPHA:794 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Protruding ear, Hypertonia, Vomiting, Tics, Otitis media, Compulsive behaviors, Abnormal ... |
OMIM:619475 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Monosomy 13Q34 |
|
Insulin resistance, Hypercalcemia, Obesity |
ORPHA:96168 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Spastic dysarth... |
ORPHA:447753 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive, Ataxia |
OMIM:618426 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst sup... |
OMIM:615574 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Small for gestational age, ... |
ORPHA:330015 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Ataxia, Optic atrophy, Abnormal autonomic nervous system physiology, Abn... |
OMIM:231550 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, Sagittal craniosynostosis, Osteoporosis, Hypocalcemia, Enamel hypoplasia |
OMIM:218330 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Difficulty walk... |
ORPHA:502423 |
Vipoma |
|
Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss, Hypokalemia, Normochromic anemia, Subcut... |
ORPHA:97282 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Bilateral sensorineural hearing impairment, Dysphagia |
ORPHA:397744 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Lo... |
ORPHA:572798 |
Parkinson Disease 21 |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism |
OMIM:616361 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Hypophosphatem... |
OMIM:616026 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... |
OMIM:615356 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Dysphagia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
Apert Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... |
ORPHA:87 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ... |
OMIM:619575 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Hypercalcemia, Weight loss |
ORPHA:276621 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... |
ORPHA:468678 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Ataxia, Tremor, Depression |
ORPHA:79095 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Dystonia, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Spasticity, Protruding ear... |
OMIM:300966 |
Vici Syndrome |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Dysphagia, Leukopenia, T l... |
OMIM:242840 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced b... |
OMIM:617052 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Tremor, Cryptorchidism, S... |
OMIM:216400 |
D-Glyceric Aciduria |
|
Hypoglycemia, Tongue thrusting, Nonketotic hyperglycinemia, Opisthotonus, Failure to thrive |
OMIM:220120 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
Somatostatinoma |
|
Diabetes mellitus, Hypercalcemia, Anorexia, Hypochromic microcytic anemia, Weight loss, Subcutane... |
ORPHA:97283 |
2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
ORPHA:1001 |
Tetanus |
|
Bowel incontinence, Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharynge... |
ORPHA:3299 |
Glucagonoma |
|
Diabetes mellitus, Hypercalcemia, Anorexia, Acanthocytosis, Weight loss, Normochromic anemia, Sub... |
ORPHA:97280 |
Tick-Borne Encephalitis |
|
Facial palsy, Anorexia, Tremor, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyn... |
ORPHA:297 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing... |
ORPHA:79255 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Tremor, Cryptorchidism, S... |
OMIM:133540 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Optic atrophy, Abnormality of visual evoked po... |
ORPHA:2510 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Thrombocytopenia, Splenomegaly, Obesity, Hypoplasia of the thymu... |
OMIM:188400 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia, Subcutaneous lipoma |
OMIM:131100 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior... |
OMIM:614756 |
Parathyroid Carcinoma |
|
Hypercalcemia, Osteoporosis, Hypophosphatemia, Weight loss, Dysphagia, Lipoma, Polydipsia, Chondr... |
ORPHA:143 |
Pitt-Hopkins Syndrome |
|
Incoordination, Cupped ear, Gait ataxia, Self-injurious behavior, Constipation, Gastroesophageal ... |
OMIM:610954 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Inability to walk, Sensorineural hearing impairment, Vocal cord paralysis, Poor fine moto... |
ORPHA:99956 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Optic atrophy, Dysphagia, Dystonia, Intention tremor |
OMIM:610217 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Polyphagia,... |
ORPHA:96121 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Flexion contracture, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Osteoporosis, Hypophosphatemia, Dysphagia, Lipoma, Polydipsia, Chondrocalcinosis |
ORPHA:99880 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Low-set ... |
ORPHA:401973 |
Kleefstra Syndrome |
|
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Thickened helices, Abnormal r... |
ORPHA:261494 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Hypercalcemia, Weight loss |
ORPHA:29072 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Shyness, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnorma... |
OMIM:301030 |
Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension |
OMIM:268800 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Cryptorchidism, Overfolde... |
OMIM:617330 |
Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Hypertonia, Gastroesophagea... |
OMIM:615485 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
Stargardt Disease |
|
Abnormality of visual evoked potentials |
ORPHA:827 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Low-set ears, EEG with... |
ORPHA:369837 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Failure to thrive, Small for gestational age |
OMIM:618252 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Decreased proportion of CD8-positive T cells, Inability to walk, Hypereosinophi... |
ORPHA:508533 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Polymicrogyria, Optic atrophy, Lissencephaly, Pachygyria, Agyria, T... |
OMIM:253800 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Developmental And Epileptic Encephalopathy 8 |
|
Frontal polymicrogyria, Exaggerated startle response |
OMIM:300607 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in... |
OMIM:619512 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Chronic diarrhea, Slurred speech, Choreoathetosis, Progressive... |
OMIM:208900 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Choreoathetosis, Chronic constipation, Gastroesophageal reflux, Myoclonus, D... |
OMIM:619777 |
Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel... |
ORPHA:649 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Hyperactivity, Papilledema, Impulsivity, Aggressive behavior, Decreased nerve condu... |
ORPHA:580 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Weight loss, Multiple lipomas, Lipoma, Increased glucagon level |
ORPHA:913 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Abnormality of the in... |
ORPHA:138 |
Legius Syndrome |
|
Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivity disorder, Dystonia, Hearing... |
ORPHA:137605 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Low-set ears, Attention deficit hyperact... |
OMIM:614294 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Neurodegeneration, Cerebral atrophy, Dystonia |
OMIM:272750 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Impaired pain sensation, Attention deficit hyperactivity diso... |
OMIM:619005 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Abnormal repe... |
OMIM:301040 |
Charge Syndrome |
|
Omphalocele, Hypocalcemia, Dysphagia, Umbilical hernia, Lymphopenia, Self-mutilation |
OMIM:214800 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:319182 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Head-banging, Hypertonia, Stere... |
ORPHA:86309 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials |
ORPHA:352731 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... |
ORPHA:513456 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia |
OMIM:619769 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypoglycemia, Small for gestational age, Craniosynostosis, Hyperkalemia, Camptodact... |
OMIM:201750 |
Ppoma |
|
Subcutaneous lipoma, Hypercalcemia, Anorexia, Weight loss |
ORPHA:97278 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased glucagon level,... |
ORPHA:276152 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Hypocalcemic seizures, Osteopetrosis, Anemia |
OMIM:612301 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... |
OMIM:301066 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cupped ear... |
OMIM:615873 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Inability to walk, Facial palsy, Dysphagia |
ORPHA:258 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Small for gestational age, Increased VLDL cholesterol concentration, Conjugate... |
OMIM:243800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Self-injurious beha... |
ORPHA:468631 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct |
ORPHA:18 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Difficulty walking, Low-set ears, Overfolded helix, Abnormal repetitive mannerisms |
OMIM:618653 |
Williams Syndrome |
|
Osteopenia, Inguinal hernia, Increased bone mineral density, Ataxia, Hypercalcemia, Elevated circ... |
ORPHA:904 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Encopresis, Unsteady gait, Gastroesophageal reflux, Constipation, Loss of ambulation, Abnormal re... |
OMIM:616682 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Protruding ear, Low-set ears,... |
OMIM:309590 |
Grfoma |
|
Subcutaneous lipoma, Hypercalcemia, Anorexia, Weight loss |
ORPHA:97261 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Cryptorchidism, Protruding ear, Gait disturbance, Attention deficit hyperactiv... |
ORPHA:464311 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Sarcoidosis |
|
Hemolytic anemia, Hypercalcemia, Eosinophilia, Scarring, Thrombocytopenia, Increased T cell count... |
ORPHA:797 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Protruding ear, Macrotia, Abnormal repetitive mannerisms |
ORPHA:464306 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... |
OMIM:309000 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia |
ORPHA:1578 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... |
OMIM:619522 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Abnormal cochlea morphology, Large e... |
ORPHA:798 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Noonan Syndrome |
|
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
Arboleda-Tham Syndrome |
|
Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atrophy, Dysphag... |
OMIM:616268 |
Williams-Beuren Syndrome |
|
Osteopenia, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Flex... |
OMIM:194050 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Difficulty walking, Dysphagia |
OMIM:164310 |
Duane Retraction Syndrome |
|
External ear malformation, Sensorineural hearing impairment, Stenosis of the external auditory ca... |
ORPHA:233 |
Kinsship Syndrome |
|
Abnormal repetitive mannerisms, Low-set ears, Bruxism |
OMIM:619297 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Flexion contracture, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Gastroesophageal reflux, Bruxism, Macrotia, Hearing impairment |
ORPHA:48652 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosur... |
ORPHA:3337 |
Primrose Syndrome |
|
Restlessness, Hip contracture, Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein ... |
OMIM:259050 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
Ogden Syndrome |
|
Inguinal hernia, Torticollis, Polycythemia, Maternal diabetes, Iron deficiency anemia, Hyperbilir... |
OMIM:300855 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Osteolysis, Reduced bone mineral density, Weight loss, Multiple lipomas |
ORPHA:652 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Aggressive behavior, ... |
ORPHA:821 |
Floating-Harbor Syndrome |
|
Restlessness, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsive behaviors, Low-... |
ORPHA:2044 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri... |
ORPHA:508498 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Poly... |
ORPHA:1606 |
African Trypanosomiasis |
|
Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor, Aggressive b... |
ORPHA:3385 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Hypercalcemia |
ORPHA:653 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Dystonia, Dysphagia, Stereotypical hand wringing |
ORPHA:438213 |
Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... |
OMIM:619325 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... |
OMIM:301044 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia |
OMIM:618367 |
Treacher-Collins Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Narrow internal auditory ... |
ORPHA:861 |
Oculocutaneous Albinism Type 1A |
|
Abnormality of visual evoked potentials |
ORPHA:79431 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, ... |
OMIM:612474 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal posturing |
ORPHA:268943 |
Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impairment, EEG abnormality, Con... |
OMIM:194190 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b... |
ORPHA:805 |
Hermansky-Pudlak Syndrome |
|
Abnormality of visual evoked potentials, Anorexia |
ORPHA:79430 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Impaired pai... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Posteriorly rotated ears, Bowel incontinence, Uplifted earlobe, Inability to wa... |
ORPHA:261537 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials, Ataxia |
OMIM:203700 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Impaired pai... |
ORPHA:261552 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Vertigo, Periodic hypokalemic paresis, Vomiting |
ORPHA:91347 |
Proteus Syndrome |
|
Macrotia, Low-set ears, Narrow internal auditory canal |
ORPHA:744 |
Cushing Disease |
|
Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Leukocytosis, Osteoporosis,... |
ORPHA:96253 |
Prolactinoma |
|
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... |
ORPHA:2965 |
Pituitary Adenoma 5, Multiple Types |
|
|
OMIM:617540 |