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Gene: Cdh23 MGI:1890219

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Gene Summary

Name:
cadherin related 23 (otocadherin)
Synonyms:
nmf181,  bob,  mdfw,  nmf112,  USH1D,  ahl,  4930542A03Rik,  nmf252,  sals

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating sodium level Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 4.43×10-06
increased circulating chloride level Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 1.08×10-10
decreased circulating glucose level Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 7.18×10-05
decreased fasting circulating glucose level Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 2.79×10-15
decreased leukocyte cell number Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 1.37×10-08
decreased circulating calcium level Cdh23tm2b(EUCOMM)Wtsi HOM   Early adult 6.04×10-05
impaired righting response Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 2.69×10-14
increased lean body mass Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 6.46×10-12
decreased total body fat amount Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 1.55×10-08
increased mean corpuscular hemoglobin Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 3.37×10-05
absent pinna reflex Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 1.05×10-18
increased bone mineral content Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 2.09×10-07
decreased body length Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 4.26×10-07
trunk curl Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 7.25×10-20
abnormal gait Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 1.03×10-14
preweaning lethality, incomplete penetrance Cdh23tm2b(EUCOMM)Wtsi HOM   Early adult 0.00
stereotypic behavior Cdh23tm2b(EUCOMM)Wtsi HOM Early adult 8.76×10-21

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

DSS Histology

Images

8 Images

View images
Legacy Phenotype Associated Images
Cdh23v
body, HET, Female, WTSI
Cdh23v
HET, Female, WTSI
Cdh23v
body, HOM, Female, WTSI
Cdh23v
body, HOM, Male, WTSI
Cdh23v
HOM, Male, WTSI

View all 181 images

Cdh23v
eye, cataracts, HOM, Male, WTSI
Cdh23v
eye, cataracts, HET, Female, WTSI
Cdh23v
eye, cataracts, HET, Female, WTSI

Human diseases caused by Cdh23 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Cdh23 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination 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
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, 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
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Usher Syndrome, Type Id
Abnormal vestibular function, Hearing impairment OMIM:601067
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Aggressive behavior, Attention deficit hyperactivity disorder, Hearing impairment OMIM:620038
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Cerebellar Ataxia And Neurosensory Deafness
Ataxia, Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Recessive 89
Vestibular hypofunction, Sensorineural hearing impairment OMIM:613916
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Deafness, Autosomal Dominant 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Abnormality of somatosensory evoked potentials, Sensorineural hearing impairm... ORPHA:101007
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Episodic Ataxia Type 5
Vertigo, Truncal ataxia, Ataxia ORPHA:211067
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia, Optic atrophy, Sensorineural hearing impairment OMIM:136600
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment, Adult onset sensorineural hearing impairment OMIM:212710
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Vertigo, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Hearing impairment, Ataxia OMIM:159800
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Violent behavior, Chorea, Limb dystonia, Upper motor neuron dysfunction, ... ORPHA:216873
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Ataxia, Deafness, And Cardiomyopathy
Ataxia, Sensorineural hearing impairment OMIM:208750
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Dystonia 12
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D... OMIM:128235
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Recessive 12
Abnormal vestibular function, Prelingual sensorineural hearing impairment OMIM:601386
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Involuntary movements, Emotional lability, Aggressive behavior, EEG abnormality, Motor stereotypy... OMIM:617171
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Up... ORPHA:401901
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Difficulty walking, Impaired vibration sensation in the lo... ORPHA:251282
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Gait ataxia, Sensorineural hearing impairment OMIM:117210
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Emotional lability, Self-mutilation, Tremor, Aggressiv... OMIM:616269
X-Linked Spinocerebellar Ataxia Type 4
Memory impairment, Difficulty walking, Postural tremor, Abnormal pyramidal sign, Dementia, Progre... ORPHA:85292
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Restless legs, Rigidity, Gait disturbance, Parkinsonism with favorabl... OMIM:616710
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, EEG abnormality, Truncal ataxia, Unsteady... OMIM:608636
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Demen... ORPHA:308
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Falls, Bruxism, Chorea, Inappropriate laughter, Motor stereotypy, Aggressive b... OMIM:619150
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Benign Paroxysmal Torticollis Of Infancy
Vomiting, Abnormal head movements, Vertigo, Irritability, Torticollis, Ataxia ORPHA:71518
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Abnormal social behavior, Hyperactivity ORPHA:436151
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... OMIM:159900
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Hearing impairment, Tremor ORPHA:217012
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Depression, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigi... OMIM:619491
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Myoclonus, Progressive gait ataxia, Bilateral sensorineural hearing impairment, Intention tremor,... ORPHA:2589
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Reduced subcutan... OMIM:612526
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Intermitte... OMIM:620270
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Brunner Syndrome
Self-injurious behavior, Diarrhea, Low frustration tolerance, Aggressive behavior, Kinetic tremor... OMIM:300615
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor, Self-biting OMIM:619988
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Spasticity, Involuntary movements, Inability to walk, Dystonia, Motor st... OMIM:617820
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor, Stereotypical hand wringing OMIM:619561
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Decreased amplitude of sensory action potentials, Positive Romberg sign, Gait ata... OMIM:608984
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Emotional lability, Impaired tacti... ORPHA:206443
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyp... OMIM:619191
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Parkinsonism, Craniof... ORPHA:71517
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperglycemia, Ataxia, Anorexia, Tip-toe gait, Dystonia, Elevated pl... ORPHA:3008
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof... OMIM:619565
Huntington Disease-Like 1
Depression, Incoordination, Chorea, Dysmetria, Rigidity, Aggressive behavior, Dementia, Unsteady ... OMIM:603218
Ravine Syndrome
Anorexia, Spasticity, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia OMIM:615361
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple... ORPHA:139431
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r... OMIM:620482
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Progressive extrapyramidal movement disorder, Abnormal head movements, C... ORPHA:382
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Sensorineural hearing impairment, Ga... ORPHA:363710
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Babinski sign, Dysmetria, Ataxia OMIM:617584
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy OMIM:619470
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Shuffli... ORPHA:52368
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Incoordination, Ataxia, Frequent falls ORPHA:79136
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Spastic diplegia OMIM:617830
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Vertigo, Gait ataxia, Kinetic tremor, Abnormal py... ORPHA:101110
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Hyperactivity, Thrombocyt... OMIM:620423
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Falls, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia 48
Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski sign, Parkinsonism, At... OMIM:618093
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Huntington Disease-Like 1
Involuntary movements, Depression, Abnormal head movements, Memory impairment, Incoordination, Ch... ORPHA:157941
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system, Hearing impairment, Ataxia ORPHA:1186
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturban... ORPHA:314632
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... OMIM:302500
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Gastroesophageal reflux, Inability to walk, Hyper... OMIM:618218
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Motor stereotypy, Abnormal pyramidal sign, H... OMIM:617435
Myoclonic Epilepsy Of Unverricht And Lundborg
Mental deterioration, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes... OMIM:254800
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hypertonia, Dystonia, Dysphagia, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Falls, Depression, Tremor, Rigidity, Dystonia, Parkinsonism with favorab... ORPHA:240085
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Spinocerebellar Ataxia 44
Spasticity, Gait ataxia, Dysmetria, Tinnitus, Dysphagia, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Splenomegaly, Failure to thrive, Hypocalcemia ORPHA:172
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Somatic sensory dysfunction, Limb... ORPHA:240103
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Chorea, Leukocytosis, Hypoca... ORPHA:94093
Spinocerebellar Ataxia Type 27
Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressi... ORPHA:98764
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia OMIM:300624
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor stereotypy, Mac... OMIM:609425
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, G... OMIM:600795
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Deafness, Autosomal Recessive 77
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:613079
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, High-frequency sensorineural hearing impairment, Difficulty walking, Inability to... ORPHA:2590
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
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Gait disturbance, Bradykinesia, Dysphagia, Dysdiadochokinesis ORPHA:228169
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Tremor, Irritab... ORPHA:3077
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia, Hypocalcem... ORPHA:94090
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypocalcemia ORPHA:163693
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Bruxism, Tremor, Paroxysmal bursts of laughter, Hyperactiv... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Basal Ganglia Calcification, Idiopathic, 1
Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, A... OMIM:213600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Paresthesia, Posi... OMIM:601098
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... ORPHA:423275
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Abnormal pinna morphology OMIM:300983
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Dyst... OMIM:615924
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Abnormal amplitude of pattern rev... OMIM:125250
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Irritability, Aggressive behavior, Lower limb spastic... ORPHA:98811
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Ataxia OMIM:616949
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokines... OMIM:604326
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Spinocerebellar Ataxia Type 28
Spasticity, Depression, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia,... ORPHA:101109
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Depression, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Emotion... OMIM:615362
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Huntington Disease-Like 3
Spasticity, Broad-based gait, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, ... ORPHA:157946
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia, Ataxia... ORPHA:1368
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Gastroesophageal reflux, Difficulty walking, Irritability, Motor stereotypy OMIM:617393
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand w... OMIM:618917
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson... OMIM:619738
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... OMIM:601455
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Hearing impairment OMIM:248510
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst... OMIM:606159
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Dysphagia ORPHA:276435
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Inability to walk, Chorea, Stereotypical hand wringing, Dystonia OMIM:618760
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Paraparesis, Gait apraxi... OMIM:615157
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Autosomal Dominant 82
Tinnitus, Sensorineural hearing impairment OMIM:619804
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Fasciculations OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Lichtenstein-Knorr Syndrome
Vestibular hypofunction, Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Sensorineural hearin... OMIM:616291
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem gait, Lower limb spa... OMIM:619028
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Basal Ganglia Calcification, Idiopathic, 5
Depression, Hand tremor, Vertigo, Postural tremor, Chorea, Parkinsonism, Motor tics, Athetosis OMIM:615483
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Subcortical... ORPHA:231169
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hypocalcemia ORPHA:100025
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Xq28 (MECP2) duplication
Depression, Gastroesophageal reflux, Inability to walk, Gait ataxia, Constipation, Dysphagia, Pro... DECIPHER:45
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment OMIM:608224
Foxg1 Syndrome
Spasticity, Gastroesophageal reflux, Difficulty walking, Inability to walk, Bruxism, Myoclonus, S... ORPHA:561854
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Han... ORPHA:3095
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Gastroesophageal reflux, Conductive hearing impairment, Inability to walk, Bruxism, Myoclonus, St... OMIM:618497
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Spastic Paraparesis And Deafness
Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Hearing i... ORPHA:276198
Fragile X Tremor/Ataxia Syndrome
Depression, Resting tremor, Bowel incontinence, Hearing impairment, Postural tremor, Gait ataxia,... OMIM:300623
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor... OMIM:617145
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Macrotia, Stereotypical hand wringing ORPHA:397933
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Spasticity, Bro... ORPHA:206448
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Hypernatremia OMIM:125800
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Hypernatremia OMIM:304800
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Oculogyric crisis, Inability to walk, Bruxism, Chorea, Inapp... OMIM:614254
Spinocerebellar Ataxia 17
Broad-based gait, Depression, Confusion, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, D... OMIM:607136
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait,... OMIM:616795
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Hearing impairment, Tremor, Ataxia ORPHA:101075
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
X-Linked Spinocerebellar Ataxia Type 3
Ataxia, Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Hypocalcemia, Hypophosphatemia, Gait disturba... ORPHA:93160
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Gait ataxia, Myoclonus, ... ORPHA:101150
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... OMIM:300423
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Emotional lability, Disinhibition, Babinski sign, Motor stereotypy, Dysphagia OMIM:612069
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dysphagia OMIM:617916
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Increased bone density w... ORPHA:94089
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Optic Atrophy 3, Autosomal Dominant
Hearing impairment, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Spasticity, Difficulty walking, Inability to walk, Lim... OMIM:617695
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Sensorineural hearing impairment, Babi... ORPHA:504476
Manganese Poisoning
Depression, Akinesia, Postural tremor, Cogwheel rigidity, Inappropriate laughter, Emotional labil... ORPHA:306682
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Hearing impairment, Tremor, Ataxia ORPHA:101078
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy, Chronic constipation OMIM:618906
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Dysphagia ORPHA:284271
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal muscular rigidity, Spe... ORPHA:99750
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Abnormal fear-induced behavior, Difficulty walking, Abnormal circulati... ORPHA:100924
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal sign, Truncal a... ORPHA:247815
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Failure to thrive, Hypocalcemia OMIM:606407
Parkinson Disease 19A, Juvenile-Onset
Shuffling gait, Spasticity, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Hsd10 Disease
Spastic paraparesis, Hearing impairment, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, D... ORPHA:391417
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Difficulty walking, Hypocalcemia, Sp... OMIM:600081
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia, Increased ... ORPHA:36913
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Irritability, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Brad... OMIM:261640
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Bruxism, Emotional labil... OMIM:300055
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Head tremor, Spinocerebellar atrophy ORPHA:95433
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Babinski sign, Parkinsonism, Abnormal pyr... OMIM:617225
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Hypernatremia, Anorexia ORPHA:223
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,... OMIM:612736
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Hypophosphatemia, Iron deficiency anemia, Tooth abscess ORPHA:89937
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Paresthesia, Hypocalcemia, Hypokalemia, Cachexia, Anorexia, Anemia OMIM:175500
Null Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Inability to walk, Decreased n... ORPHA:280234
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Failure to thrive, Osteomalacia, Di... ORPHA:289157
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Tremor, Sensorineural h... OMIM:302800
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... ORPHA:391411
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin conc... OMIM:267700
Behr Syndrome
Dysmetria, Tremor, Chronic constipation, Babinski sign, Gait disturbance, Dysphagia, Ataxia, Trun... OMIM:210000
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Irritabili... OMIM:616881
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic... ORPHA:93324
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Action tremor, Obsessive-compulsive trait, Attention deficit hyperactivity diso... OMIM:617665
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Failure to thrive, Difficulty walking, Hypocalcemia, Sp... OMIM:264700
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Large fleshy ears, Myoclonus, Gait ataxia, Tremor, Hypertonia, Ataxia, Overfolded h... OMIM:619092
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... OMIM:606693
X-Linked Agammaglobulinemia
Cellulitis, Failure to thrive, Hypocalcemia, Weight loss, Thrombocytopenia, Neutropenia, Anemia, ... ORPHA:47
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Sensorineural hearing impairm... OMIM:610185
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Dystonia, Spastic ... ORPHA:280763
Celiac Disease, Susceptibility To, 1
Ataxia, Type I diabetes mellitus, Rickets, Failure to thrive, Hypocalcemia, Macrocytic anemia, We... OMIM:212750
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Osteopetrosis, Thrombocytopenia, Cal... OMIM:259700
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Truncal ataxia, Dysphagi... OMIM:607346
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Somatic sensory dysfunction, Hand tremor, I... ORPHA:101085
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Albers-Schönberg Osteopetrosis
Anemia, Generalized osteosclerosis, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Hyponatremia, Weight loss, Anorexia ORPHA:178029
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Hearing impairment, Tremor, Babinski sign, Steppage gait, Hypertonia OMIM:609260
Hijazi-Reis Syndrome
Gastroesophageal reflux, Chronic constipation, Ankle clonus, Gait disturbance, Lower limb spastic... OMIM:301094
Gerstmann-Straussler Disease
Spasticity, Depression, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Emotional lability... OMIM:137440
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Gastroparesis, Gait ataxia, Myoclonus, Tremor, Rigi... OMIM:618877
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Motor stereotypy OMIM:619690
Progressive Supranuclear Palsy
Blepharospasm, Depression, Falls, Vertigo, Emotional lability, Tremor, Rigidity, Dystonia, Irrita... ORPHA:683
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Depression, Resting tremor, Postural tremor, Limb atax... ORPHA:227510
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Motor stereotypy,... OMIM:619317
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Vomiting, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor... OMIM:607483
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Depression, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonis... OMIM:168600
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Spinocerebellar Ataxia 10
Depression, Incoordination, Decreased nerve conduction velocity, Limb fasciculations, Limb ataxia... OMIM:603516
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Vestibular areflexia, Progressive hearing impairment OMIM:193005
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Depression, Pill-rolling tremor, Resting tremor, Hand tre... OMIM:612953
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Motor stereotypy, ... ORPHA:457240
Spinocerebellar Ataxia 50
Hearing impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia OMIM:620158
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Compulsive behaviors, Low-set ears, Attention deficit hyperactivity disorder, Recurrent hand flap... OMIM:620021
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypert... OMIM:128100
Spinocerebellar Ataxia Type 14
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia, Ataxia ORPHA:163921
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Gastroesophageal reflux, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rig... OMIM:613135
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Spinocerebellar Ataxia, Autosomal Recessive 31
Bruxism, Tremor, Self-mutilation, Ataxia, Bilateral sensorineural hearing impairment, Dystonia, D... OMIM:619422
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,... ORPHA:79263
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Hyperactivity OMIM:300434
Congenital Disorder Of Glycosylation, Type Iibb
Low-set ears, Spasticity, Tetraparesis, Antalgic gait, Tremor, Aggressive behavior, Macrotia OMIM:620546
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Paresthesia, Hypocalcemia, Hypokalemia, Increased circulating ... OMIM:601198
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Hearing impairment, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Myoclon... ORPHA:101
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Irritability, Lethargy, Limb hypertonia, Dystonia, Dysp... OMIM:233910
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormali... OMIM:301013
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Motor deterioration, Social and occupational deterioratio... ORPHA:168782
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Difficulty walking, Inability to walk, Tremor, Gait disturbance ORPHA:101077
Mirage Syndrome
Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thr... OMIM:617053
Alg8-Cdg
Failure to thrive, Abnormality of subcutaneous fat tissue, Hyponatremia, Camptodactyly, Thrombocy... ORPHA:79325
Developmental And Epileptic Encephalopathy 67
Dystonia, Gait disturbance, Recurrent hand flapping, Athetosis OMIM:618141
Perry Syndrome
Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dys... OMIM:168605
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin conc... OMIM:603553
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Macrocytic anemia, ... ORPHA:199299
X-Linked Charcot-Marie-Tooth Disease Type 5
Hearing impairment, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Abnormal amplitude of flash visual evoked potentials, Obsessive... ORPHA:168491
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Generalized dystonia, Tip-toe gait, Inability to walk, Opisthotonus, Attentio... ORPHA:216866
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Tremor, Sensorineural hearing impairment, Protruding ear, Aggressive behav... OMIM:618342
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Depression, Hearing impairment, Generalized dystonia, Inabi... OMIM:312080
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Osteoporosis OMIM:612462
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Self-injurious behavior, Absent internal auditory canal, Hypoplasia of the cochlea, Profound sens... OMIM:620469
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia OMIM:615508
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Difficulty walking, Inappropriate laug... OMIM:618476
Huntington Disease-Like 2
Depression, Bradykinesia, Chorea, Action tremor, Rigidity, Irritability, Dystonia OMIM:606438
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin... ORPHA:240071
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactiv... OMIM:614104
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation OMIM:619405
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia,... OMIM:259720
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Failure to thrive, Hypoglycemia OMIM:614736
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Phenylketonuria
Depression, Lower limb spasticity, Tremor, Ataxia ORPHA:716
Webb-Dattani Syndrome
Obesity, Hypernatremia OMIM:615926
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, T... ORPHA:544254
Spinocerebellar Ataxia 6
Frequent falls, Vertigo, Incoordination, Dysmetria, Loss of ambulation, Dysphagia, Ataxia, Trunca... OMIM:183086
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Mitochondrial Membrane Protein-Associated Neurodegeneration
Shuffling gait, Spastic paraparesis, Spasticity, Hand tremor, Rigidity, Dystonia, Babinski sign, ... ORPHA:289560
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Hyperbilirubin... ORPHA:1667
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Decreased proportion of naive T... OMIM:619381
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... OMIM:620292
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Dysphagia, Frequent falls OMIM:159950
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Diarrhea, Gastroesophageal reflux, Limb dystonia, Myoclonus, Em... OMIM:608643
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia OMIM:618387
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia OMIM:179800
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Inability to walk, Gait ataxia, Recurrent hand flapping, Emotional lability, ... OMIM:619580
Glut1 Deficiency Syndrome 2
Tremor, Irritability, Ataxia, Dystonia, Choreoathetosis OMIM:612126
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Abnormal ... ORPHA:363558
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula... ORPHA:247353
Hyperkalemic Periodic Paralysis
Paresthesia, Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Gait ... ORPHA:682
Young-Onset Parkinson Disease
Spasticity, Depression, Diarrhea, Bradykinesia, Gastroparesis, Gait imbalance, Restless legs, Tre... ORPHA:2828
Aicardi-Goutieres Syndrome 6
Tremor, Irritability, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Low-set ears, Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Christianson Syndrome
Inappropriate laughter, Dysphagia, Dystonia, Motor stereotypy, Macrotia ORPHA:85278
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Spinocerebellar Ataxia Type 10
Depression, Gait imbalance, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Kinetic trem... ORPHA:98761
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, Increased body wei... ORPHA:94086
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Piebald Trait With Neurologic Defects
Hearing impairment, Ataxia OMIM:172850
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Depression, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Pa... OMIM:168601
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Emotional lability, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia ORPHA:542310
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Depression, Resting tremor, Vomiting, Akinesia, Cogwhee... ORPHA:97349
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Parkinsonism With Polyneuropathy
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:619279
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Tremor, Rigidity, Dystonia, ... OMIM:615530
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Inability to walk, Hypertonia, Motor stereotypy, Macrotia OMIM:619877
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Depression, Emotional lability, Loss of ambulation, Clumsiness, Parkinso... ORPHA:79264
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation OMIM:615516
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia OMIM:618587
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Vomiting, Paraplegia, Emotional lability, Lethargy, Ataxia, Nausea, Motor stereotypy, A... ORPHA:927
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Whipple Disease
Ataxia, Insulin resistance, Polydipsia, Splenomegaly, Hyponatremia, Cachexia, Anorexia, Anemia ORPHA:3452
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Gait disturbance, Tremor, Sensorineural hearing impairment OMIM:118300
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Depression, Gastroesophageal reflux, Hostility, Inability to walk, Bruxism, Chorea,... OMIM:300260
Pyruvate Dehydrogenase E2 Deficiency
Generalized dystonia, Paroxysmal dystonia, Oculomotor apraxia, Jerky head movements, Ataxia, Dyst... OMIM:245348
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Dysphagia, Tremor ORPHA:90117
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-reactive ... ORPHA:1930
Multiple System Atrophy, Parkinsonian Type
Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,... ORPHA:98933
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia, Bone cyst ORPHA:2668
Smith-Magenis Syndrome
Pain insensitivity, Abnormal nerve conduction velocity, Abnormality of the outer ear, Head-bangin... OMIM:182290
Spinocerebellar Ataxia With Epilepsy
Depression, Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive ... ORPHA:254881
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dystonia ORPHA:329284
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia OMIM:618504
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia ORPHA:330050
Congenital Isolated Acth Deficiency
Hyponatremia, Hypoglycemic seizures, Neonatal hypoglycemia ORPHA:199296
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Aminoacylase 1 Deficiency
Hyperactivity, Sensorineural hearing impairment OMIM:609924
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity OMIM:301029
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, Abnormality of extrapyr... OMIM:614298
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Lennox-Gastaut Syndrome
Vertigo, Aggressive behavior, Hyperactivity ORPHA:2382
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Aggressive behavior, Hearing impairment, Hyperactivity ORPHA:369939
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Failure to thrive in infancy, Autoimmu... ORPHA:37042
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... ORPHA:352490
Oculoskeletodental Syndrome
Hypercalcemia, Enamel hypoplasia, Hypocalcemia ORPHA:557003
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:619473
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Thrombocytopenia, Neutro... ORPHA:391673
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Restless legs, Rigidity, Bab... ORPHA:75567
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Mohr-Tranebjaerg Syndrome
Dystonia, Dysphagia, Abnormal posturing, Tremor OMIM:304700
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Rett Syndrome, Congenital Variant
Spasticity, Gastroesophageal reflux, Bruxism, Chorea, Irritability, Protruding ear, Apraxia, Tong... OMIM:613454
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Abnormal posturing, Elevated circulating propionylcarnitine concentration, Ing... OMIM:614857
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism, Bra... OMIM:300894
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Obesity, Parest... ORPHA:79444
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Paroxysmal dystonia, Hemiparesis, Li... OMIM:618004
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Spinocerebellar Ataxia 2
Ataxia, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysme... OMIM:183090
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Inability to walk, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis,... OMIM:617913
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... ORPHA:449291
Autosomal Dominant Dopa-Responsive Dystonia
Depression, Hearing impairment, Generalized dystonia, Postural tremor, Limb dystonia, Gait ataxia... ORPHA:98808
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dyston... OMIM:607694
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hypoketotic hypoglycemia, Hypocalcemia, Hyp... ORPHA:26793
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Cholera
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Decreased skull ossification, Asplenia, Hypoplastic spleen OMIM:602361
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Obesity, Parest... ORPHA:79443
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hearing impairment, Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia... ORPHA:137898
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Gastroesophageal reflux, Difficulty walking, Abnormality of co... ORPHA:442835
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, EEG with spike-wave complexes (2.5-3.5 Hz), Je... ORPHA:64280
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hearing impairment, Hyperactivity ORPHA:457260
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypoketotic hypoglycemia, Tip-toe gait, Hypocalcemia ORPHA:746
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Legionnaires Disease
Cellulitis, Ataxia, Lymphopenia, Splenomegaly, Hyponatremia, Anorexia ORPHA:549
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia OMIM:617810
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge... ORPHA:251061
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Anem... OMIM:127000
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at... OMIM:608768
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Constipation, Hyperactivity, ... ORPHA:228402
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Peroxisome Biogenesis Disorder 5B
Tremor, Dysmetria, Sensorineural hearing impairment, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Depression, Increased theta frequency activity in EEG, Attention deficit h... ORPHA:98784
Hypophosphatasia
Anemia, Craniosynostosis, Failure to thrive in infancy, Hypercalcemia ORPHA:436
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Large earlobe, Inability to walk, Hypsarrhythmia, Multifocal epileptiform di... ORPHA:411986
Snakebite Envenomation
Hyponatremia, Neuromuscular dysphagia, Thrombocytopenia, Pseudobulbar paralysis ORPHA:449285
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Classic Galactosemia
Depression, Diarrhea, Vomiting, Incoordination, Speech apraxia, Postural tremor, Gait imbalance, ... ORPHA:79239
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Memory impairment, Resting tremor, Akinesia, Gait ataxia, Intention t... ORPHA:247234
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Depression, Resting tremor, Akinesia, Low frustration tolerance, Chronic constipa... ORPHA:411602
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Depression, Progressive extrapyramidal muscular rigidity, Chorea, ... ORPHA:282166
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Oromandibular Dystonia
Blepharospasm, Depression, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Hype... ORPHA:93958
Cdkl5-Deficiency Disorder
Impaired pain sensation, Difficulty walking, Bruxism, Inappropriate laughter, Stereotypical hand ... ORPHA:505652
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Large fleshy ears, Inability to walk, Tremor, Attention deficit hyperactivity disorder, Hypertoni... OMIM:619556
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia, Dystonia, ... OMIM:617807
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Hypophosphatemia, Gait disturbance, Hypocalcemia ORPHA:352540
Hypophosphatasia, Infantile
Unossified vertebral bodies, Failure to thrive, Stillbirth, Elevated plasma pyrophosphate, Decrea... OMIM:241500
Glutathionuria
Action tremor, Constipation, Dysdiadochokinesis, Tremor OMIM:231950
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Low-set ears, Spasticity, Recurrent hand flapping, Constipation, Limb hypertonia, Unsteady gait, ... OMIM:618480
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Hyperactivity, Premature ovarian insufficiency, Motor stereotypy, Macrotia ORPHA:391307
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia, Small for gestational age, Failure to thrive, Hypocalcemia OMIM:607143
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Stereotypical hand wringing, Sensorineural hearing impairment, Skin-pick... OMIM:600430
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperactivity di... OMIM:617808
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:203400
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Hypoproteinemia, Somatic... ORPHA:167
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
4H Leukodystrophy
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... ORPHA:289494
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Salt craving, We... ORPHA:95409
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Optic atrophy, Hyperactivity, Motor stereotypy, Abnormal social behavior ORPHA:530983
Oculoskeletodental Syndrome
Elbow flexion contracture, Splenomegaly, Hypocalcemia, Hypercalcemia, Small for gestational age OMIM:618440
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:610600
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Ogden Syndrome
Low-set ears, Abnormal head movements, Macrotia, Torticollis ORPHA:276432
Neuronal Intranuclear Inclusion Disease
Tremor, Rigidity, Gait disturbance, Episodic vomiting, Ataxia OMIM:603472
Addison Disease
Normocytic anemia, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Thiamine-responsive... ORPHA:85138
Pearson Syndrome
Ataxia, Glycosuria, Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocalcemia, Hy... ORPHA:699
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Low-set ears, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity OMIM:620445
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Shigellosis
Microangiopathic hemolytic anemia, Hypoglycemia, Failure to thrive in infancy, Leukocytosis, Absc... ORPHA:810
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fine motor coordin... ORPHA:36387
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Depression, Resting tremor, Vertigo, Head tremor, Gait ataxia, Babins... ORPHA:458803
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Pitt-Hopkins-Like Syndrome 1
Spasticity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, EEG abn... OMIM:610042
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Rhabdoid Tumor
Anemia, Weight loss, Hypercalcemia, Thrombocytopenia ORPHA:69077
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Cystinosis
Type I diabetes mellitus, Polydipsia, Failure to thrive, Rickets, Hypokalemia, Hypophosphatemia, ... ORPHA:213
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Hypoglycemia, Slender build, Pancytopeni... OMIM:613658
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Chondrocalcinosis, Hyperchloriduria, Failure to thrive, Increased serum prostaglandin... OMIM:601678
Familial Glucocorticoid Deficiency
Failure to thrive, Hyponatremia, Ketotic hypoglycemia, Weight loss, Anorexia, Hypoglycemic seizur... ORPHA:361
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity, Impulsivity OMIM:300143
Optic Atrophy 11
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... OMIM:617302
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Renal Hypoplasia, Bilateral
Failure to thrive, Glycosuria, Hyponatremia, Anemia, Hyperkalemia, Small for gestational age ORPHA:97362
Rett Syndrome
Difficulty walking, Inability to walk, Bruxism, Stereotypical hand wringing, Dystonia, Gait distu... ORPHA:778
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Spasticity, Poor hand-eye coordination, Vomiting, Speech apraxia, Ileus, Aggres... OMIM:300352
Riboflavin Transporter Deficiency
Progressive hearing impairment, Myoclonus, Tremor, Aggressive behavior, Ataxia, Dysphagia ORPHA:97229
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Gastroesophageal reflux, Pica, Stereotypical body rocking, Tongue thrusting, Co... OMIM:617865
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Spasticity, Aggressive behavior, Posteriorly rotated ears, Constipation, Hyperactiv... OMIM:618430
Ataxia With Vitamin E Deficiency
Short term memory impairment, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsine... OMIM:277460
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:264350
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Gastroesophageal reflux, Inability to walk, Tremor, Constipation, Dystonia, Dysphagia... OMIM:617664
Choreoacanthocytosis
Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of ambulation, Parkinsonism... ORPHA:2388
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Spasticity, Oculogyric crisis, Gastroesophageal reflux, Oral-pharyngeal ... ORPHA:208447
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Chondrocalcinosis, Polydipsia, Fai... ORPHA:358
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Brain atrophy, Hearing impairment, Exaggerated startle response OMIM:620114
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Failure to thrive, Glycosuria, Elevated circulating creatinine concentr... ORPHA:411634
Spontaneous Periodic Hypothermia
Diarrhea, Gait disturbance, Tremor, Ataxia ORPHA:29822
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Aggressive behavior, Hyperactivity OMIM:615286
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Posteriorly rotated ears, Hyperactivity... OMIM:618027
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity OMIM:613192
4Q21 Microdeletion Syndrome
Low-set ears, Self-injurious behavior, Hearing impairment, Tremor, Motor stereotypy ORPHA:238750
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level OMIM:177735
Intellectual Developmental Disorder, X-Linked 30
Macrotia, Aggressive behavior, Hyperactivity, Restlessness, Agitation OMIM:300558
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Gastroesophageal reflux, Recurrent hand flapping, Chronic constipation, ... OMIM:300986
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy, Hearing impairment OMIM:616351
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Bacterial Toxic-Shock Syndrome
Cellulitis, Hypoalbuminemia, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem... ORPHA:36234
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
48,Xxyy Syndrome
Depression, Gastroesophageal reflux, Tremor, Attention deficit hyperactivity disorder, Constipati... ORPHA:10
Microtia
Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin... ORPHA:83463
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level ORPHA:556037
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Gait imbalance, Myoclonus, Abnormal eating behavior, Tr... ORPHA:98794
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy, Inability to walk OMIM:613443
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:620242
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypomagnesemia, Paresthesia, Hypocalcemia, Writer's cramp, Reduced bone minera... ORPHA:428
Adamantinoma
Hypercalcemia ORPHA:55881
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal pyramidal sign, Hypertonia,... ORPHA:96
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Gait ataxia, Myoclonus, Tremor,... ORPHA:363400
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Hyperesthesia, Spasticity, Mental det... ORPHA:206436
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:98773
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Dy... ORPHA:225147
Phenylketonuria
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Co... OMIM:261600
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hypogonadism, Aggressive behavior, Hyperactivity, Self-biting,... ORPHA:3306
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... OMIM:618825
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Depression, Tremor, Sensorineural hearing impairment, Hyperkinetic movements, Gait di... OMIM:300957
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level ORPHA:556030
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination, EEG with generalized s... ORPHA:397612
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Diarrhea, Gastroesophageal reflux, Tremor, Irritability, Babinski sign, Consti... ORPHA:35708
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Optic atrophy, Aggressive behavior, Attention deficit hyperactivity diso... ORPHA:313892
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Chondrocalcinosis, Polydipsia, Failure to thrive, Hyperchloriduria, Hypomagnesemia, I... OMIM:241200
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Low-set ears, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor ... OMIM:616393
Potocki-Lupski Syndrome
Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia, Hearing impairment OMIM:610883
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Dysgyria, Tremor, Exaggerated ... OMIM:620327
Hereditary Coproporphyria
Hyponatremia, Atypical scarring of skin, Abnormal circulating porphyrin concentration ORPHA:79273
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Th... ORPHA:79324
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls OMIM:616719
Porphyria Variegata
Somatic sensory dysfunction, Abnormal circulating porphyrin concentration, Hyponatremia, Scarring... ORPHA:79473
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... OMIM:620211
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykines... OMIM:234200
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Abnormal dental enamel morphology, Obesity, Polyphagia, Episodic hemolytic an... ORPHA:251004
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Alazami Syndrome
Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere... ORPHA:319671
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Gastroesophageal reflux, Hair-pulling, Irritability, Motor stereotypy, Protruding e... ORPHA:447997
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Babinski sign, Scissor gait, Attention deficit hyperactivity disorder, Aggressive beha... OMIM:619121
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased circulating reni... ORPHA:171876
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Hypertonia, Sensorineural hearing impairment ORPHA:1192
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive OMIM:620157
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia, Gait ataxia, Self-mutilation, Tremor, Aggressive behavior, Atte... ORPHA:476126
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Cri-Du-Chat Syndrome
Low-set ears, Optic atrophy, Hearing impairment, Stenosis of the external auditory canal, Opposit... OMIM:123450
Tay-Sachs Disease
Mania, Depression, Decerebrate rigidity, Hearing impairment, Laryngeal dystonia, Inability to wal... ORPHA:845
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Recurrent hand flapping, Gait disturbance, Dystonia, Agitation OMIM:617903
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Hyperactivity, Motor ster... OMIM:617751
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Abnormal motor evoked potentials, Parkinsonism, ... ORPHA:909
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia OMIM:224500
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Rett Syndrome
Spasticity, Gastroesophageal reflux, Bruxism, Gait ataxia, Stereotypical hand wringing, Constipat... OMIM:312750
Radio-Tartaglia Syndrome
Low-set ears, Gastroesophageal reflux, Conductive hearing impairment, Hearing impairment, Large e... OMIM:619312
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... OMIM:113650
Familial Isolated Hyperparathyroidism
Osteopenia, Chondrocalcinosis, Hypophosphatemia, Generalized osteoporosis, Hypercalcemia ORPHA:99879
22Q11.2 Duplication Syndrome
Hearing impairment, Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compul... ORPHA:1727
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Oculomotor apraxia, Ataxia, Truncal... OMIM:208920
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypoproteinemia, Splenomegaly, Hypocalcemia OMIM:235255
Japanese Encephalitis
Pill-rolling tremor, Elbow flexion contracture, Anorexia, Tremor, Hyponatremia, Opisthotonus, Neu... ORPHA:79139
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Adult-Onset Distal Myopathy Due To Vcp Mutation
Depression, Fasciculations, Difficulty walking, Tremor, Parkinsonism, Frequent falls, Bowel incon... ORPHA:329478
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Bilateral conductive hearing impairment, Inability to walk, Dysphagia, Interictal e... OMIM:617802
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Enamel hypoplasia, Subcutaneous ossification, Os... OMIM:103580
Metachromatic Leukodystrophy
Addictive behavior, Tip-toe gait, Decerebrate rigidity, Hearing impairment, Incoordination, Emoti... ORPHA:512
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Optic nerve hypoplasia ORPHA:228384
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Chronic constipation, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia... OMIM:618060
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hearing impairment, Hyperactivity OMIM:300958
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Macrotia, Exaggerated startle response OMIM:617281
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Fg Syndrome 3
Hyperactivity, Sensorineural hearing impairment OMIM:300406
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Snijders Blok-Campeau Syndrome
Low-set ears, Broad-based gait, Speech apraxia, Attention deficit hyperactivity disorder, Unstead... OMIM:618205
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Difficulty walking, Cortical irregularity, Paresthesia, Antalgic gait, Fib... ORPHA:249
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Diarrhea, Hearing impairment, Paraplegia, Limb ataxia, Tremor, H... OMIM:105210
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Recurrent hypoglycemia, Abnormal lymphocyte morphology, Hyponatremia, Severe B... ORPHA:293978
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Vertigo, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Nausea OMIM:602481
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Spasticity, Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereot... OMIM:300486
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617301
Crouzon Syndrome
Narrow internal auditory canal, Optic atrophy, Conductive hearing impairment, Hearing impairment ORPHA:207
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, ... ORPHA:765
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Disinhibition, Aggressive behavior, Attention deficit hyperactivi... ORPHA:43
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, D... OMIM:617061
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Motor stereotypy, Chronic constipation, Ataxia OMIM:619428
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolyti... ORPHA:544482
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Reduced social reciprocity, Sensorineural hearing impairment, Atte... ORPHA:261197
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia, Ataxia, Severe temper tantru... OMIM:617710
Hartsfield Syndrome
Craniosynostosis, Hypernatremia OMIM:615465
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Depression, Tremor, Aggressive behavior, Oculomotor apraxia, Hyper... OMIM:612716
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia, Tremor ORPHA:94080
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Tremor, Impaired tandem gait, Polyminimyoclonus, Dysphagia OMIM:619574
Familial Dysautonomia
Impaired pain sensation, Hyponatremia, Gait disturbance, Ataxia, Osteolysis ORPHA:1764
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Tremor, Hypocalcemia, Hypophosphatemia, Osteopetrosis, Anemia, Craniosynostosis, Re... ORPHA:667
Myopathy, Mitochondrial, And Ataxia
Depression, Hearing impairment, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tr... OMIM:617675
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Tremor, Lethargy, Constipation, Hypertonia, Ataxia ORPHA:99745
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Cartilage-Hair Hypoplasia
Failure to thrive, Hypocalcemia, Abnormal bone ossification, Neutropenia, Anemia, Abnormally ossi... ORPHA:175
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Inte... OMIM:616505
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megaco... OMIM:609136
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Inguinal hernia, Splenomegaly, Hypocalcemia, Hypoproteinemia ORPHA:1655
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia, Small for gestational age ORPHA:621
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Pain insensitivity, Broad-based gait, Fixated interests, Umbilical herni... OMIM:620330
Myoclonic-Astatic Epilepsy
Abnormal emotion, Tremor, Attention deficit hyperactivity disorder, Abnormal pyramidal sign, Hype... ORPHA:1942
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Hypogonadism, Congenital sensorineural hearing impai... ORPHA:73272
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin... ORPHA:90791
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Myopathy With Extrapyramidal Signs
Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Clo... OMIM:615673
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Infantile Myofibromatosis
Chondrocalcinosis, Hypercalcemia, Osteolysis, Bone cyst ORPHA:2591
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment... OMIM:617796
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia ORPHA:70594
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineural hearing impairment,... ORPHA:500159
Bartter Syndrome Type 4
Failure to thrive, Hypomagnesemia, Increased circulating renin level, Hypokalemia, Severe failure... ORPHA:89938
Deafness, Unilateral
Unilateral deafness OMIM:125000
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Ethylene Glycol Poisoning
Addictive alcohol use, Hyperkalemia, Hypocalcemia, Ataxia ORPHA:31826
Transketolase Deficiency
Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Compulsive... ORPHA:488618
Developmental And Epileptic Encephalopathy 66
Anemia, Broad-based gait, Motor stereotypy, Neutropenia OMIM:618067
Classic Phenylketonuria
Self-injurious behavior, Depression, Hemiplegia, Paraplegia, Tremor, Attention deficit hyperactiv... ORPHA:79254
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Broad-based gait, Persistence of hemoglobin F, Limb ataxia, Recurrent ha... OMIM:617101
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced social reciprocity... OMIM:300912
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Myoclonus, Tr... ORPHA:199351
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia ORPHA:529665
Ritscher-Schinzel Syndrome 4
Chorea, Impulsivity, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Macrotia OMIM:619435
Hypercalcemia, Infantile, 1
Weight loss, Hypercalcemia, Failure to thrive OMIM:143880
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Failure to thrive, Hypoglycemia ORPHA:90790
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment, Torticollis ORPHA:73
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase c... ORPHA:2785
Pituitary Apoplexy
Hyponatremia, Hypoglycemia, Normochromic anemia ORPHA:95613
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, EEG with generalized slow activity, Exaggerated startle response, Macr... OMIM:617864
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Polydipsia, Failure to thrive, Glycosuria, Hypomag... OMIM:219800
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy, Decreased body weight OMIM:618347
Infant Botulism
Hyponatremia, Dysphagia, Anorexia ORPHA:178478
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Broad-based gait, Increased HbA2 hemoglobin, Increased bone mineral den... OMIM:616943
Adenylosuccinase Deficiency
Low-set ears, Inappropriate laughter, Self-mutilation, Aggressive behavior, Opisthotonus, Hyperac... OMIM:103050
Hyperparathyroidism, Neonatal Severe
Polydipsia, Failure to thrive, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Gastroesophageal reflux, Incoordination, Gait ataxia, Overfriendliness, Motor stere... OMIM:616579
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Spasticity, Inability to walk, Limb dystonia, Sensorineural hearing impa... ORPHA:457351
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Nipah Virus Disease
Vertigo, Myoclonus, Tremor, Anorexia ORPHA:99825
Hypomagnesemia 3, Renal
Polydipsia, Failure to thrive, Hyperphosphatemia, Increased circulating beta-C-terminal telopepti... OMIM:248250
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Ir... OMIM:601104
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hyponatremia, Ataxia,... OMIM:610505
Sheehan Syndrome
Hyponatremia, Hypoglycemia, Obesity, Normochromic anemia ORPHA:91355
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hearing impairment, Hyperactivity OMIM:252920
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Episodic hemiplegia, Tetraparesis, Oral-pharyngeal dysphagia, Anorexia, Chore... ORPHA:2131
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Knee flexion contracture, Hip contracture, Hypophosphatemia, Hypercalcemia, Waddling ... OMIM:156400
Chromosome 5P13 Duplication Syndrome
Low-set ears, Self-injurious behavior, Posteriorly rotated ears, Compulsive behaviors, Motor ster... OMIM:613174
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Gastroesophageal reflux, Vomiting, Inability to walk, ... ORPHA:72
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Calvarial osteoscler... OMIM:617994
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment OMIM:608747
47,Xyy Syndrome
Low-set ears, Male infertility, Azoospermia, Attention deficit hyperactivity disorder, Hyperactiv... ORPHA:8
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Trisomy X
Attention deficit hyperactivity disorder, Depression, Tremor, Constipation ORPHA:3375
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Failure to thrive, Reduced bone mineral density, ... ORPHA:168558
Velocardiofacial Syndrome
Hypocalcemia, Aggressive behavior, Inguinal hernia, Umbilical hernia OMIM:192430
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Holoprosencephaly
Hypoglycemia, Failure to thrive in infancy, Abnormality of the spleen, Chorea, Congenital diaphra... ORPHA:2162
13Q12.3 Microdeletion Syndrome
Chronic otitis media, Hearing impairment, Self-mutilation, Hyperactivity ORPHA:412035
Sandifer Syndrome
Anemia, Hiatus hernia, Abnormal posturing, Torticollis ORPHA:71272
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Failure to thrive, Reduced bone mineral density, ... ORPHA:289548
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Failure to thrive, Hepatosplenomegaly, Hypersplenism, Hyponatremia, Cachexia, Weigh... ORPHA:275761
Acute Intermittent Porphyria
Somatic sensory dysfunction, Pseudobulbar paralysis, Tremor, Hyponatremia, Restlessness ORPHA:79276
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Overfriendliness, Attention deficit hyperactivity disorder, Posteriorly rotated ear... OMIM:619293
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Tremor, Fasciculations OMIM:313200
Developmental And Epileptic Encephalopathy 2
Gastroesophageal reflux, Inability to walk, Myoclonus, Constipation, Motor stereotypy OMIM:300672
Adrenal Hypoplasia, Congenital
Hyponatremia, Failure to thrive OMIM:300200
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Difficulty walking, Abnormality of peripheral nerve conduction... ORPHA:90321
Panhypophysitis
Hyponatremia, Polydipsia, Normochromic anemia ORPHA:95513
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Spasticity, Inability to walk, Emotional lability, Sensorineural hearing impairment... ORPHA:300570
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia, Optic nerve hypoplasia ORPHA:572013
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level ORPHA:427
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Spasticity, Cataplexy, Fasciculations, Chronic constipation, Tetraplegia, Dysphagia, Ataxia, Dyst... ORPHA:496641
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, U... ORPHA:457279
Chromosome 15Q11.2 Deletion Syndrome
Reduced social reciprocity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor... OMIM:615656
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Tremor, Aggressive behavio... OMIM:620494
East Syndrome
Polydipsia, Difficulty walking, Inability to walk, Action tremor, Sensorineural hearing impairmen... ORPHA:199343
Perry Syndrome
Parkinsonism, Depression, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
White-Sutton Syndrome
Self-injurious behavior, Low-set ears, Abnormality of the outer ear, Gastroesophageal reflux, Ove... OMIM:616364
Stankiewicz-Isidor Syndrome
Low-set ears, Abnormal optic disc morphology, Hearing impairment, Hyperactivity OMIM:617516
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Hyponatremia OMIM:620155
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Rauch-Steindl Syndrome
Prominent crus of helix, Protruding ear, Aggressive behavior, Attached earlobe, Hyperactivity, Mo... OMIM:619695
Coenzyme Q10 Deficiency, Primary, 1
Myoclonus, Tremor, Sensorineural hearing impairment, Loss of ambulation, Right hemiplegia, Episod... OMIM:607426
Liver Disease, Severe Congenital
Failure to thrive, Umbilical hernia, Increased circulating ferritin concentration, Leukopenia, Hy... OMIM:619991
Histidinemia
Hyperactivity ORPHA:2157
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Emotional lability, Tremor, Irritability, Lethargy, Ataxia OMIM:201100
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Multiple lipomas, Hypophosphatemia, Hypercalcemia OMIM:600740
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Sensorineural hearing impairment OMIM:609727
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Xerostomia, Dysmetria, Tremor, Sensorineural hearing impairment, ... OMIM:618527
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Failure to thrive, Difficulty walking, Sparse bone trab... OMIM:277440
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Motor stereotypy, Abnormal antihelix morphology ORPHA:261144
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia OMIM:616113
Supranuclear Palsy, Progressive, 2
Falls, Akinesia, Gait imbalance, Postural tremor, Axial dystonia, Retrocollis, Rigidity, Irritabi... OMIM:609454
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Atypical scarring of skin, Failure to thrive, Umbilical hernia, Abnormal... ORPHA:534
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Gastroesophageal reflux, Inability to walk, Myoclonus, Tremor, Stereotypical hand wri... OMIM:619229
Hennekam Syndrome
Camptodactyly of finger, Lymphopenia, Hypocalcemia, Splenomegaly, Craniosynostosis ORPHA:2136
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Hyponatremia, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Exaggerated s... ORPHA:521426
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity disorder, M... OMIM:619103
Nmda Receptor Encephalitis
Mania, Involuntary movements, Oculogyric crisis, Depression, Diarrhea, Vomiting, Chorea, Myoclonu... ORPHA:217253
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Enamel hypoplasia, Subperiosteal bone formation, Calcinosis, Hyp... OMIM:211900
Spinal Cord Injury
Dysesthesia, Hypercalcemia, Somatic sensory dysfunction, Allodynia ORPHA:90058
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Smith-Magenis Syndrome
Self-injurious behavior, Conductive hearing impairment, Impaired pain sensation, Attention defici... ORPHA:819
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Falls, Arthrogryposis multiplex congenita, Failure to thrive, Tip-toe gait, Hyp... OMIM:619503
Wolfram Syndrome 1
Hearing impairment, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:222300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia ORPHA:163979
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Serotonin Syndrome
Diarrhea, Myoclonus, Tremor, Rigidity, Irritability, Clonus, Hypertonia, Nausea, Restlessness, Ag... ORPHA:43116
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response, Posteriorly rotated ears OMIM:617527
Adenohypophysitis
Hyponatremia, Normochromic anemia ORPHA:95512
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Paresthesia, Splenomegaly, Weight loss... ORPHA:29073
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Gastroesophageal reflux, Vomiting, Chorea, Self-mutilation, Hyperkinetic movements... ORPHA:522077
Niemann-Pick Disease Type C
Hearing impairment, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxi... ORPHA:646
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
X-Linked Creatine Transporter Deficiency
Self-mutilation, Aganglionic megacolon, Hyperactivity, Dystonia, Athetosis ORPHA:52503
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Hyperactivity OMIM:252900
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tetraparesis, Tremor, Rigidity, Irritability, Torticollis, Ataxia, Restlessness OMIM:617186
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Vertigo, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athe... ORPHA:25
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Obes... ORPHA:411511
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Ataxia, Motor stereotypy ORPHA:2479
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Self-mutilation, Stereotypical hand wringing, Sensorineural hearing impairment, Agg... OMIM:212066
Kleefstra Syndrome 1
Hearing impairment, Aggressive behavior, Compulsive behaviors, Motor stereotypy, Abnormal pinna m... OMIM:610253
Jaberi-Elahi Syndrome
Low-set ears, Broad-based gait, Inability to walk, Gait ataxia, Dysmetria, Appendicular spasticit... OMIM:617988
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Impaired pain sensation, Hyperglycemia, Obesity, Hyperlipide... ORPHA:293987
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Inappropriate laughter, Prominent antihelix, Macrotia OMIM:615802
Aceruloplasminemia
Blepharospasm, Involuntary movements, Akinesia, Limb ataxia, Gait ataxia, Chorea, Tremor, Rigidit... ORPHA:48818
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased sku... ORPHA:93325
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Recurrent otitis media, Speech apraxia, Recurrent hand flapping, Tremor, Aggressive... OMIM:619680
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Multiple lipomas, Chondrocalcinosis, Hypercalcemia OMIM:145981
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Diabetes mellitus, Hypocalcemia ORPHA:2237
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Hypercalcemia, Osteolysis, Osteosclerosis of the ulna OMIM:602080
22Q11.2 Deletion Syndrome
Failure to thrive, Multiple suture craniosynostosis, Umbilical hernia, Abnormal dental enamel mor... ORPHA:567
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thy... ORPHA:83471
Joubert Syndrome 6
Oculomotor apraxia, Motor stereotypy, Ataxia OMIM:610688
Alexander Disease
Self-injurious behavior, Spasticity, Depression, Chorea, Emotional lability, Tremor, Gait disturb... ORPHA:58
Thymic Neuroendocrine Tumor
Osteopenia, Weight loss, Hypercalcemia ORPHA:97289
Citrullinemia Type Ii
Diarrhea, Vomiting, Abnormal eating behavior, Tremor, Irritability, Aggressive behavior, Lethargy... ORPHA:247585
Phelan-Mcdermid Syndrome
Broad-based gait, Gastroesophageal reflux, Hearing impairment, Bruxism, Protruding ear, Aggressiv... OMIM:606232
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Autosomal Dominant Progressive External Ophthalmoplegia
Depression, Gastroesophageal reflux, Resting tremor, Hearing impairment, Gastroparesis, Gait atax... ORPHA:254892
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Hyperlysinemia
Hypoplastic helices, Poor motor coordination, Hypoplasia of the antihelix, Gastroesophageal reflu... ORPHA:2203
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia ORPHA:96168
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Attention deficit hyperactivity disorder, Motor stereotypy, Sensori... ORPHA:435638
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Vipoma
Subcutaneous lipoma, Hypokalemia, Weight loss, Anorexia, Hypercalcemia, Normochromic anemia, Diab... ORPHA:97282
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Spasticity, Hearing impairment, Emotional lability, Progressive spastic quadrip... OMIM:619475
Lead Poisoning
Somatic sensory dysfunction, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentra... ORPHA:330015
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Spastic ... ORPHA:447753
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Asparagine Synthetase Deficiency
Global brain atrophy, EEG with burst suppression, Simplified gyral pattern, Tremor, Simple ear, C... OMIM:615574
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia, Failure to thrive, Ataxia OMIM:618426
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Low-set ears, Head-banging, Recurrent otitis media, Frequent temper tant... OMIM:619575
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Inability to walk, Speech apraxia, Chorea, Esophagitis, Tremor, Hyperkinetic ... OMIM:615356
Cranioectodermal Dysplasia 1
Inguinal hernia, Hypocalcemia, Sagittal craniosynostosis, Enamel hypoplasia, Osteoporosis OMIM:218330
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Prominent crus of... ORPHA:794
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Depression, Hearing impairment, Difficulty walking, Tremor, Dysmetria, Dysdiadochokinesis, Progre... ORPHA:502423
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor OMIM:250800
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Wars2-Related Combined Oxidative Phosphorylation Defect
Low-set ears, Difficulty walking, Limb dystonia, Dysmetria, Tremor, Aggressive behavior, Limb hyp... ORPHA:572798
White-Sutton Syndrome
Self-injurious behavior, Optic atrophy, Abnormality of the outer ear, Sensorineural hearing impai... ORPHA:468678
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Niemann-Pick Disease, Type C2
Spasticity, Cataplexy, Motor stereotypy, Ataxia, Dystonia, Dysphagia OMIM:607625
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Lipoma, Hypocalcemic se... ORPHA:405
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemia, Dia... OMIM:616026
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineur... ORPHA:87
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Legius Syndrome
Hearing impairment, Vestibular schwannoma, Attention deficit hyperactivity disorder, Hyperactivit... ORPHA:137605
Parkinson Disease 21
Bradykinesia, Parkinsonism, Tremor, Rigidity OMIM:616361
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Depression, Tremor, Ataxia ORPHA:79095
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia, Tremor ORPHA:276621
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia, Opisthotonus, Tongue thrusting, Elevated circulating D-glyceric ... OMIM:220120
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Conductive hear... ORPHA:1001
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Myoclonus, Gait ataxia, Action tremor, Unsteady gait, Dysphagia, Intention tremor OMIM:254900
Vici Syndrome
Failure to thrive, Abnormal posturing, Lymphopenia, Leukopenia, Decreased proportion of CD4-posit... OMIM:242840
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Exaggerated startle response OMIM:620451
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Low-set ears, Spasticity, Gastroesophageal reflux, Hearing impairment, Oral-pharyngeal dysphagia,... OMIM:300966
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:216400
Somatostatinoma
Subcutaneous lipoma, Weight loss, Hypochromic microcytic anemia, Anorexia, Hypercalcemia, Diabete... ORPHA:97283
Glucagonoma
Subcutaneous lipoma, Acanthocytosis, Weight loss, Anorexia, Hypercalcemia, Normochromic anemia, D... ORPHA:97280
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Subcutaneous lipoma OMIM:131100
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Tick-Borne Encephalitis
Hearing impairment, Vertigo, Anorexia, Abnormal cranial nerve morphology, Abnormal glossopharynge... ORPHA:297
Digeorge Syndrome
Umbilical hernia, Obesity, Splenomegaly, Inguinal hernia, Hypocalcemia, Hypoplasia of the thymus,... OMIM:188400
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:133540
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Sensorineural hearing impairment, Vo... ORPHA:99956
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Low-set ears, Broad-based gait, Gastroesophageal reflux, Hand tremor, Short ear, Gait ataxia, Dys... OMIM:614756
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Diffuse cerebral atrophy, Exaggerated startle response, Macrotia ORPHA:79255
Parathyroid Carcinoma
Chondrocalcinosis, Polydipsia, Hypercalcemia, Weight loss, Hypophosphatemia, Osteoporosis, Lipoma... ORPHA:143
Pitt-Hopkins Syndrome
Self-injurious behavior, Gastroesophageal reflux, Cupped ear, Incoordination, Gait ataxia, Consti... OMIM:610954
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Hearing impairment, Abnormal earlobe morphology, Low-set, posteriorly ro... ORPHA:96121
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin, Failure to thrive ORPHA:98791
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Hyperactivity, Dystonia, Dysphagia, Intention tremor, Impulsivity OMIM:610217
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Small for gestational age, Failure to thrive OMIM:618252
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Kleefstra Syndrome
Self-injurious behavior, Hearing impairment, Self-mutilation, Aggressive behavior, Thickened heli... ORPHA:261494
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia, Osteoporosis, Lipoma, Dysphagia ORPHA:99880
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Hypercalcemia, Tremor ORPHA:29072
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Bainbridge-Ropers Syndrome
Self-injurious behavior, Low-set ears, Vomiting, Gastroesophageal reflux, Inability to walk, Recu... OMIM:615485
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Mend Syndrome
Low-set ears, Aggressive behavior, Abnormal auditory evoked potentials, Hyperactivity ORPHA:401973
Van Esch-O'Driscoll Syndrome
Protruding ear, Attention deficit hyperactivity disorder, Excessive shyness, Motor stereotypy, Im... OMIM:301030
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Polymicrogyria, Type II lissencephaly, Exaggerated startle response, Pachygyria, A... OMIM:253800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Elbow flexion contracture, Hypereosino... ORPHA:508533
Hypotonia, Ataxia, And Delayed Development Syndrome
Low-set ears, Broad-based gait, Gastroesophageal reflux, Speech apraxia, Gait ataxia, Overfolded ... OMIM:617330
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Optic atrophy, Low-set ears, Frequent temper tantrums, Sensorineural hea... OMIM:619512
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Hearing impairment, EEG with generalized sharp slow waves, EEG with spike-wave comp... ORPHA:369837
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Aplasia of the inner ear, Abnormal cranial nerve morphology, Sensorineural he... ORPHA:90024
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... ORPHA:2306
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Increased serum bile acid concentrat... ORPHA:731
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Optic atrophy, Otosclerosis, Conductive hearing impairment, Decreased n... ORPHA:580
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Developmental And Epileptic Encephalopathy 100
Gastroesophageal reflux, Chorea, Myoclonus, Gait ataxia, Chronic constipation, Dysphagia, Motor s... OMIM:619777
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior ... OMIM:260400
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Ataxia-Telangiectasia
Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Chronic diarrhea, Slurr... OMIM:208900
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Norrie Disease
Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Sensorineural hearing impairme... ORPHA:649
Zollinger-Ellison Syndrome
Multiple lipomas, Weight loss, Lipoma, Hypercalcemia, Increased glucagon level ORPHA:913
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Self-mutilation, Decreased body weight, Attention deficit hyperactivity ... OMIM:619005
Dpagt1-Cdg
Head-banging, Hearing impairment, Inability to walk, Akinesia, Stereotypical body rocking, Tremor... ORPHA:86309
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Dystonia, Cerebral atrophy, Exaggerated startle response OMIM:272750
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Sensorineural hearing impairment, Motor stereotypy, Posteriorly rotated ears, Microtia OMIM:301040
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Charge Syndrome
Umbilical hernia, Lymphopenia, Hypocalcemia, Self-mutilation, Omphalocele, Dysphagia OMIM:214800
Wiedemann-Steiner Syndrome
Low-set ears, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:319182
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hearing impairment, Low-set, posteriorly rotat... ORPHA:138
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Umbilical hernia, Overweight, Persistence of hemoglobin F OMIM:619769
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Hypoglycemia, Decreased circulating renin level, Hyponatremia, Cam... OMIM:201750
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Gastroesophageal reflux, Recurrent otitis media, Stereotypical body rocking, Ga... ORPHA:513456
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Cupped ear, Bruxism, Reduced social reciprocity, Motor stereotypy, Polyphagia, Atte... OMIM:615873
Ppoma
Weight loss, Hypercalcemia, Subcutaneous lipoma, Anorexia ORPHA:97278
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Osteopetrosis, Anemia, Hypocalcemic seizures OMIM:612301
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Recurrent otitis media, EEG with central focal spikes, Motor ster... OMIM:301066
Multiple Endocrine Neoplasia Type 4
Subcutaneous lipoma, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypercalcemia, Incr... ORPHA:276152
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Irritability, Parkinsonism, Hypertonia ORPHA:1578
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Williams Syndrome
Osteopenia, Abnormal circulating lipid concentration, Umbilical hernia, Abnormal dental enamel mo... ORPHA:904
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Thin ear helix, Low-set, posteriorly rotated ears, Bilateral sensorineur... ORPHA:468631
Johanson-Blizzard Syndrome
Failure to thrive, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration, Conjugat... OMIM:243800
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Encopresis, Loss of ambulation, Constipation, Unsteady gait, Motor stere... OMIM:616682
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Reduced social reciprocity, Skin-picking, Attention defic... ORPHA:177907
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation ORPHA:424
Sarcoidosis
Leukopenia, Hypercalcemia, Bone cyst, Increased T cell count, Eosinophilia, Scarring, Weight loss... ORPHA:797
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Optic disc pallor, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Protruding ear, Hyperactivity, Optic disc pallor, Motor stereotypy, Macrotia ORPHA:464306
Grfoma
Weight loss, Hypercalcemia, Subcutaneous lipoma, Anorexia ORPHA:97261
Oculopharyngodistal Myopathy 1
Difficulty walking, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:164310
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Overfolded helix, Motor stereotypy, Difficulty walking OMIM:618653
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Polydipsia, Sensorineural hearing impairment ORPHA:18
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Posteriorly rotated ears, Attention deficit hyperactivity disorder, Dysphagia, Exag... OMIM:619522
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Optic atrophy, Cupped ear, Hearing impairment, Protruding ear, Posteriorly rotated ... OMIM:309590
Kinsship Syndrome
Low-set ears, Gastroesophageal reflux, Bruxism, Myoclonus, Chronic constipation, Spastic tetrapar... OMIM:619297
Arboleda-Tham Syndrome
Low-set ears, Optic atrophy, Small earlobe, Prominent antihelix, Recurrent otitis media, Underdev... OMIM:616268
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia ORPHA:99867
Monosomy 22Q13.3
Gastroesophageal reflux, Hearing impairment, Bruxism, Hair-pulling, Hyperactivity, Macrotia ORPHA:48652
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Large earlobe, Aganglionic... ORPHA:798
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Rickets, Failu... OMIM:309000
Pheochromocytoma
Hypercalcemia OMIM:171300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behavior, Otitis me... ORPHA:353281
Primrose Syndrome
Self-injurious behavior, Generalized osteoporosis, Glucose intolerance, Reduced bone mineral dens... OMIM:259050
Ogden Syndrome
Polycythemia, Umbilical hernia, Hyperbilirubinemia, Inguinal hernia, Iron deficiency anemia, Dysp... OMIM:300855
Williams-Beuren Syndrome
Osteopenia, Umbilical hernia, Failure to thrive in infancy, Obesity, Glucose intolerance, Gait im... OMIM:194050
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Multiple lipomas, Weight loss, Anorexia, Hypercalcemia, Osteolysis ORPHA:652
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Inguinal hernia, Hip contracture, Tremor, Bilateral ... ORPHA:821
Duane Retraction Syndrome
Hearing impairment, Narrow internal auditory canal, Stenosis of the external auditory canal, Sens... ORPHA:233
Cornelia De Lange Syndrome 6
Low-set ears, Gastroesophageal reflux, Hair-pulling, Compulsive behaviors, Posteriorly rotated ea... OMIM:620568
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Abnormal optic disc morphology, Facial palsy, Motor stereotypy, Optic nerve h... ORPHA:508498
1P36 Deletion Syndrome
Self-injurious behavior, Gastroesophageal reflux, Conductive hearing impairment, Low-set, posteri... ORPHA:1606
Floating-Harbor Syndrome
Low-set ears, Abnormal temper tantrums, Conductive hearing impairment, Aggressive behavior, Atten... ORPHA:2044
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin... ORPHA:648
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Reduced subcutaneous adipose tissue ORPHA:653
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Stereotypical hand wringing, Exaggerated startle response, Optic disc pallor, Dystonia, Dysphagia ORPHA:438213
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Coffin-Siris Syndrome 12
Low-set ears, Prominent antihelix, Large earlobe, Sensorineural hearing impairment, Protruding ea... OMIM:619325
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypsarrhythmia, EEG abnormality, Overfolded helix, Posteriorly rotated ears OMIM:301044
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response OMIM:618367
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav... ORPHA:353277
Treacher-Collins Syndrome
Narrow internal auditory canal, Abnormality of the middle ear, Conductive hearing impairment, Mic... ORPHA:861
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Self-injurious behavior, Tremor, Sensorineural hearing impairment, Protruding ear, ... OMIM:612474
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi... OMIM:157800
Unilateral Polymicrogyria
Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Stenosis of the external auditory canal, Sensorineural hearing imp... OMIM:194190
Alkaptonuria
Methemoglobinemia, Reduced bone mineral density, Hemolytic anemia ORPHA:56
Mowat-Wilson Syndrome
Broad-based gait, Spasticity, Vomiting, Conductive hearing impairment, Inability to walk, Bruxism... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Spasticity, Inability to walk, Bruxism, Recurrent otitis media, Sensorineural h... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Spasticity, Inability to walk, Bruxism, Recurrent otitis media, Sensorineural h... ORPHA:261552
Tsh-Secreting Pituitary Adenoma
Vertigo, Vomiting, Periodic hypokalemic paresis, Tremor ORPHA:91347
Proteus Syndrome
Low-set ears, Exostosis of the external auditory canal, Narrow internal auditory canal, Macrotia ORPHA:744
Cushing Disease
Lymphopenia, Dorsocervical fat pad, Leukocytosis, Increased body weight, Truncal obesity, Abdomin... ORPHA:96253
Prolactinoma
Irregular menstruation, Male hypogonadism, Vertigo, Abnormality of the menstrual cycle, Hypogonad... ORPHA:2965
Pituitary Adenoma 5, Multiple Types
OMIM:617540

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cdh23

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdh23.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdh23tm2b(EUCOMM)Wtsi Cdh23v PMC7263671
Neural circuits underlying auditory contrast gain control and their perceptual implications. Nature communications (January 2020) Cdh23ahl+em1H PMC6965083
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cdh23tm2b(EUCOMM)Wtsi Cdh23v Cdh23v PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cdh23v PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cdh23tm2b(EUCOMM)Wtsi Cdh23v PMC5827107
Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice. Hearing research (November 2011) Cdh23CBA/CaJ Cdh23ahl PMC3277672

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cdh23tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdh23em3(IMPC)H Point Mutation Mice
Cdh23tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cdh23tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cdh23em2H Point Mutation Mice
Cdh23tm2b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Cdh23tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cdh23em1H Point Mutation Mice

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