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Gene: Hmx3 MGI:107160

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Gene Summary

Name:
H6 homeobox 3
Synonyms:
Nkx5.1,  Nkx5-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
decreased body weight Hmx3tm1Ebo HOM Early adult 1.52×10-21
decreased circulating free fatty acids level Hmx3tm1Ebo HOM Early adult 1.95×10-05
abnormal behavior Hmx3tm1Ebo HOM Early adult 8.97×10-05
abnormal defecation Hmx3tm1Ebo HOM   Early adult 2.49×10-05
abnormal locomotor activation Hmx3tm1Ebo HOM Early adult 4.21×10-05
decreased body weight Hmx3tm1Ebo HET Early adult 9.84×10-07
hyperactivity Hmx3tm1Ebo HOM Early adult 5.26×10-05
decreased prepulse inhibition Hmx3tm1Ebo HOM Early adult 1.48×10-05
decreased circulating triglyceride level Hmx3tm1Ebo HOM Early adult 7.31×10-07
decreased grip strength Hmx3tm1Ebo HOM Early adult 1.21×10-05
abnormal gait Hmx3tm1Ebo HOM Early adult 4.11×10-05

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.

Phenotype associated images not available

Human diseases caused by Hmx3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hmx3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Deafness, Autosomal Dominant 80
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... OMIM:619274
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hy... ORPHA:231720
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment OMIM:618915
Fraxe Intellectual Disability
Hyperactivity, Agitation, Prominent ear helix, Intrauterine growth retardation, Short stature, Re... ORPHA:100973
Pituitary Carcinoma
Hypopituitarism, Hyperpituitarism, Elevated circulating growth hormone concentration, Pituitary p... ORPHA:300385
Polyendocrine-Polyneuropathy Syndrome
Abnormal pyramidal sign, Decreased testicular size, Progressive hearing impairment, Ataxia, Centr... ORPHA:453533
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Short stature, Decreased response to growth hormone stimulation te... OMIM:221750
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Severe short stature, Decreased res... OMIM:618157
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... OMIM:620198
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Cryptorchidism, Small pituitary gland, Sensorineural hearing impairment, Hypogon... OMIM:612702
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Progressive hearing impairment, Ataxia, Central hypothyroidism, Short ... OMIM:616113
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Hyperactivity, Short stature OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity ORPHA:436151
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Dilated vestibule of the inner ear, Sensorineural hearing i... OMIM:611584
Pendred Syndrome
Enlarged vestibular aqueduct, Abnormality of the inner ear, Vertigo, Hypoplasia of the cochlea, S... ORPHA:705
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Progressive gait ataxi... ORPHA:2589
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia,... ORPHA:95434
Isolated Growth Hormone Deficiency, Type Ii
Severe short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimula... OMIM:173100
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Central adrenal insufficiency, Small pituitary gland, Short stature, Upper motor... OMIM:612079
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Deafness, X-Linked 2
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... OMIM:304400
Joubert Syndrome 38
Low-set ears, Oculomotor apraxia, Posteriorly rotated ears, Small pituitary gland, Short stature,... OMIM:619476
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Meningioma
Papilledema, Neoplasm of the posterior pituitary, Enlarged pituitary gland, Decreased serum testo... ORPHA:2495
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Hyperactivity, Short stature DECIPHER:8
Thyroid Hormone Metabolism, Abnormal, 1
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Increased circulat... OMIM:609698
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Deafness-Hypogonadism Syndrome
Delayed puberty, Conductive hearing impairment, Abnormality of the internal auditory canal, Abnor... ORPHA:90646
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Agitation, Intrauterine growth retardation, Short stature, Recurrent hand flapping... OMIM:309548
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Intrauterine growth retardation, Rigidity, Hearing impairment, Focal T2 hyp... OMIM:619057
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Panhypophysitis
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... ORPHA:95513
Deafness, X-Linked 5, With Peripheral Neuropathy
Tinnitus, Abnormal middle ear reflexes, Hearing impairment, Abnormal speech discrimination, Verti... OMIM:300614
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Short stature, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Wolfram-Like Syndrome
Delayed puberty, Progressive cerebellar ataxia, Severe postnatal growth retardation, Abnormal pin... ORPHA:411590
Branchiootic Syndrome 1
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... OMIM:602588
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... ORPHA:95512
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Short statur... OMIM:618160
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Hyperactivity OMIM:615493
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... OMIM:303110
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Hyperactivity ORPHA:356996
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Severe sensorineural hearing impairment, Abnormal pinna morphology, Small pituitary gland, Optic ... OMIM:614195
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cogwheel rigidity, Dysdiadochokinesis, Tremor, Sensorineural hearing... ORPHA:363710
Paroxysmal Non-Kinesigenic Dyskinesia
Hyperkinetic movements, Torticollis, Rigidity, Chorea, Involuntary movements, Choreoathetosis, Pa... ORPHA:98810
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Hyperactivity, Posteriorly rotated ears, Macrotia, Abnormal repetitive mannerisms OMIM:609425
Congenital Disorder Of Glycosylation, Type Iiq
Spastic tetraplegia, Small pituitary gland OMIM:617395
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Reduced circulating growth hormone concentration, Hypopituitarism, Impaired growth-hormone respon... OMIM:613038
Cog2-Cdg
Spastic tetraplegia, Small pituitary gland ORPHA:435934
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Optic n... OMIM:182230
Noonan Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Short stature, Sensorineural hearing impairmen... ORPHA:648
Craniopharyngioma
Delayed puberty, Hypopituitarism, Hypogonadism, Increased circulating prolactin concentration, Ab... ORPHA:54595
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
X-Linked Acrogigantism
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:300373
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus OMIM:616921
Usher Syndrome Type 1
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231169
Ane Syndrome
Delayed puberty, Motor neuron atrophy, Adrenocorticotropin deficient adrenal insufficiency, Abnor... ORPHA:157954
Deafness, Autosomal Dominant 9
Vertigo, Tinnitus, Cochlear degeneration, Postlingual sensorineural hearing impairment OMIM:601369
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Short stature, Hypothyroidism OMIM:275120
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland OMIM:614880
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Abnormal pyramidal sign, Distal sensory impairment, Ataxia, Impaired distal vibration sensation, ... OMIM:616688
Hydranencephaly
Dysgenesis of the thalamus, Thalamic edema, Intrauterine growth retardation, Atrophic pituitary g... ORPHA:2177
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Decreased response to growth hormone stimulation test, Short stature, Ectopic... ORPHA:67045
Allan-Herndon-Dudley Syndrome
Prominent antihelix, Spastic tetraplegia, Ataxia, Clonus, Stahl ear, Athetosis, Elevated circulat... OMIM:300523
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Morning myoclonic jerks, Intention tremor, Myoclonus ORPHA:308
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor OMIM:618425
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Myoclonus, Sensorineural hearing impairment, Ataxia OMIM:545000
Combined Saposin Deficiency
Hyperkinetic movements, Myoclonus, Fasciculations, Babinski sign, Optic atrophy OMIM:611721
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Euthyroid goiter, Slurred speech, Sensorineural hearing impairm... ORPHA:3327
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... OMIM:607317
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Macrotia ORPHA:397933
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Ataxia, Stapes ankylosis, Ankle clonus, Bilateral sensorineural he... ORPHA:1435
Hsd10 Disease
Ataxia, Optic atrophy, Rigidity, Hearing impairment, Tremor, Myoclonus, Postnatal growth retardat... ORPHA:391417
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Cryptorchidism, Diabetes insipidus, Septo-optic dysplasia, Short stature, Opti... ORPHA:3157
Developmental And Epileptic Encephalopathy 37
Spasticity, Hyperkinetic movements, Cogwheel rigidity, Rigidity, Chorea, Myoclonus, Choreoathetosis OMIM:616981
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Unsteady gait, Falls, Short stepped shuffling gait, Loss of ambulation, Gait imbalance, Neuromusc... ORPHA:240094
Pituicytoma
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... ORPHA:251623
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Branchiootorenal Syndrome 1
Conductive hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibular a... OMIM:113650
Congenital Disorder Of Glycosylation, Type In
Spasticity, Ataxia, Short stature, Sensorineural hearing impairment, Myoclonus OMIM:612015
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Cryptorchidism, Breast hypoplasia, Primary gonadal insufficiency, Small pituitar... ORPHA:2232
Sheehan Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Hashimoto thyroiditis, Breast hypoplasia, De... ORPHA:91355
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abnormality of ext... OMIM:605407
Thyrocerebroretinal Syndrome
Goiter, Ataxia, Slurred speech, Sensorineural hearing impairment, Myoclonus OMIM:274240
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Intention tremor, Giant somatosensory evoked potentials, Myoclonus OMIM:618876
Fg Syndrome Type 1
Cryptorchidism, Small pituitary gland, Short stature, Optic nerve hypoplasia, Cupped ear, Stenosi... ORPHA:93932
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Hyperkinetic movements, Conductive hearing impairment, Choreoathetosis, Myoclonus OMIM:618497
Sandhoff Disease, Adult Form
Spasticity, Gait ataxia, Fasciculations, Tremor ORPHA:309169
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypopituitarism, Decreased circulating luteinizing hormone level, Inappropriate antidiuretic horm... ORPHA:226307
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Bruxism, Abnormal repetitive mannerisms, Low-set ears, Hyperactivity OMIM:618718
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Bdv Syndrome
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... OMIM:619326
Sim1-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Decreased testicular size, Cryptorchidism, Hypogonadism, Central ... ORPHA:398079
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Abnormal repetitive mannerisms, Recurrent hand flapping, Dysphagia, Short stature OMIM:617862
Neutral Lipid Storage Disease With Myopathy
Short stature, Diabetes mellitus, Sensorineural hearing impairment, Fasciculations OMIM:610717
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Abnormal circulating adrenocorticotropin concen... OMIM:262600
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Attention deficit hyperactivity disorder, Compulsive behaviors, Recurrent hand flap... OMIM:620021
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Hypothyroidism OMIM:619647
Intellectual Developmental Disorder, Autosomal Recessive 58
Abnormal repetitive mannerisms, Pica, Short stature OMIM:617270
Spinocerebellar Ataxia 50
Froment sign, Ataxia, Postural tremor, Apraxia, Hearing impairment, Chorea, Head tremor, Myoclonu... OMIM:620158
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity OMIM:301076
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms OMIM:608631
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Intrauterine growth retardation, Short stature, Birth l... OMIM:614104
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements OMIM:611092
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the inner ear, Underdeveloped tragus, Abnorm... ORPHA:50815
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic tetraplegia, Hypoplasia of the semicircular canal, Short-segment aganglionic ... OMIM:609136
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Decreased testicular size, Short stature, Decreased response to growth ho... ORPHA:457240
Autism, Susceptibility To, X-Linked 3
Abnormal repetitive mannerisms OMIM:300496
Autism, Susceptibility To, X-Linked 1
Abnormal repetitive mannerisms OMIM:300425
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Ataxia, Decreased circulating follicle stimulating hormone co... OMIM:308750
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Low-set ears, Ataxia, Ankle clonus, Posteriorly rotated ears, Exaggerate... OMIM:618598
Charge Syndrome
Delayed puberty, Low-set ears, Aplasia/Hypoplasia of the thymus, Parathyroid hypoplasia, Cryptorc... OMIM:214800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity, Ataxia OMIM:615924
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation OMIM:617171
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction ORPHA:401901
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Spinocerebellar Ataxia Type 27
Limb ataxia, Gait disturbance, Difficulty walking, Gait ataxia, Akinesia, Truncal ataxia ORPHA:98764
Distal Deletion 10Q
Low-set ears, Protruding ear, Cochlear malformation, Attention deficit hyperactivity disorder, Sh... ORPHA:96148
Pituitary Dermoid And Epidermoid Cysts
Hyperpituitarism, Increased circulating prolactin concentration, Hypogonadism, Abnormal central m... ORPHA:91351
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Impaired distal vibration sensation, Tremor, Fascicul... ORPHA:276435
Spinocerebellar Ataxia 13
Spasticity, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Impaired distal ... OMIM:605259
Spinocerebellar Ataxia Type 36
Limb myoclonus, Limb ataxia, Hand tremor, Ataxia, Babinski sign, Hearing impairment, Head tremor,... ORPHA:276198
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology OMIM:300983
Autism
Abnormal repetitive mannerisms OMIM:209850
Autism, Susceptibility To, 8
Abnormal repetitive mannerisms OMIM:607373
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Hyperactivity, Attention deficit hyperactivity disorder, Short stature, Repetitive ... ORPHA:352490
Episodic Ataxia Type 7
Hyperkinetic movements, Vertigo, Tinnitus, Episodic ataxia ORPHA:209970
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Decreased testicular size, Cryptorchidism, Hypogonadism, Central ... ORPHA:398069
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Prader-Willi Syndrome
Decreased circulating gonadotropin concentration, Decreased testicular size, Cryptorchidism, Hypo... ORPHA:739
Hartnup Disorder
Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Attention deficit hyperactivity disorder, Abnormal cochlea m... ORPHA:52368
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Choreoathetosis, Myoclonus, Hearing impairment OMIM:609056
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Gait ataxia, Intention tremor, Fasciculations, Babinski sign, Truncal ataxia, Dysmetria OMIM:613728
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Dystonia 3, Torsion, X-Linked
Tremor, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea OMIM:314250
Webb-Dattani Syndrome
Spasticity, Cryptorchidism, Diabetes insipidus, Short stature, Decreased response to growth hormo... OMIM:615926
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations OMIM:183050
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Frequent falls, Upper limb hypertonia, Progressive cerebellar ataxia, Progressive gait ataxia, Lo... ORPHA:254343
Dentatorubral-Pallidoluysian Atrophy
Parkinsonism, Ataxia, Chorea, Myoclonus, Choreoathetosis OMIM:125370
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Hyperactivity, Protruding ear, Bruxism, Attention deficit hyperactivity disorder, S... OMIM:618342
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Spastic tetraplegia, Myoclonus OMIM:618285
Mitochondrial Complex I Deficiency, Nuclear Type 12
Frequent falls, Ataxia, Progressive sensorineural hearing impairment, Myoclonus, Choreoathetosis OMIM:301020
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Increased circulating prola... ORPHA:91350
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Hearing impairment, Tremor, Myoclonus ORPHA:139485
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Premature ovarian insufficiency, Hyperactivity, Macrotia ORPHA:391307
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Frequent falls, High-frequency sensorineural hearing impairment, Eyelid myoclonus, Limb myoclonus... ORPHA:2590
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Culler-Jones Syndrome
Hypopituitarism, Cryptorchidism, Hypogonadism, Diabetes insipidus, Short stature, Ectopic posteri... OMIM:615849
Non-Acquired Panhypopituitarism
Delayed puberty, Hypopituitarism, Decreased testicular size, Anterior pituitary hypoplasia, Short... ORPHA:90695
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Gait ataxia, Dysmetria OMIM:618090
Spinocerebellar Ataxia Type 14
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Rigidity, Tremor, Gait a... ORPHA:98763
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Macrotia OMIM:618504
Microphthalmia, Syndromic 3
Spastic tetraplegia, Cryptorchidism, Optic nerve aplasia, Bilateral sensorineural hearing impairm... OMIM:206900
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Ataxia, Tremor, Large fleshy ears, Gait ataxia, Myoclonus, Overfolded helix, Hypert... OMIM:619092
Isolated Exencephaly
Maternal diabetes, Low-set ears, Anterior pituitary hypoplasia, Posterior pituitary agenesis ORPHA:563612
Chromosome 14Q11-Q22 Deletion Syndrome
Spasticity, Low-set ears, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concen... OMIM:613457
Striatonigral Degeneration, Infantile, Mitochondrial
Frequent falls, Clonus, Paroxysmal choreoathetosis, Chorea, Myoclonus, Babinski sign, Incoordinat... OMIM:500003
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Posteriorly rotated ears, Low-set ears, Disproportionate short-limb short stature, Small pituitar... OMIM:619479
Alobar Holoprosencephaly
Spasticity, Oromotor apraxia, Central hypothyroidism, Abnormal central motor function, Diabetes i... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Spasticity, Oromotor apraxia, Central hypothyroidism, Abnormal central motor function, Diabetes i... ORPHA:93926
Lobar Holoprosencephaly
Spasticity, Oromotor apraxia, Central hypothyroidism, Abnormal central motor function, Diabetes i... ORPHA:93924
Semilobar Holoprosencephaly
Spasticity, Oromotor apraxia, Central hypothyroidism, Abnormal central motor function, Diabetes i... ORPHA:220386
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Elevated circ... ORPHA:91347
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Ataxia, Progressive spastic paraplegia, Short stature, Puberty and gonadal disorders,... ORPHA:464282
Riboflavin Transporter Deficiency
Progressive hearing impairment, Abnormal cranial nerve morphology, Hypogonadism, Ataxia, Diabetes... ORPHA:97229
Baker-Gordon Syndrome
Athetoid cerebral palsy, Hyperkinetic movements, Ataxia, Involuntary movements, Choreoathetosis OMIM:618218
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Parkinsonism, Abnormality of extrapyramidal motor function, Ataxia OMIM:162350
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Spasticity, Anterior pituitary hypoplasia, Pituitary hypothyroidism OMIM:619983
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Distal sensory impairment, Decreased motor nerve conduction velocity, Fasciculations OMIM:606595
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity OMIM:239500
Mitochondrial Complex I Deficiency, Nuclear Type 31
Sensorineural hearing impairment, Myoclonus, Dysmetria OMIM:618251
Pontocerebellar Hypoplasia, Type 11
Attention deficit hyperactivity disorder, Short stature, Dysphagia, Macrotia, Abnormal repetitive... OMIM:617695
Episodic Ataxia, Type 5
Ataxia, Vertigo, Myoclonus, Episodic ataxia, Truncal ataxia OMIM:613855
Developmental And Epileptic Encephalopathy 40
Spasticity, Intrauterine growth retardation, Myoclonus, Spastic tetraparesis, Choreoathetosis OMIM:617065
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Parkinsonism, Progressive cerebellar ataxia, Weakness due to upper motor neuron dys... ORPHA:275872
Apert Syndrome
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... ORPHA:87
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Hemiparesis, Ataxia, Apraxia, Chorea, Myoclonus, Paralysis, Hypertonia, Extrapyramida... ORPHA:71277
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Glut1 Deficiency Syndrome 1
Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Babinski sign, Choreoathetosis OMIM:606777
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Tics, Posteriorly rotated ears, Attention deficit hy... OMIM:617808
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Ataxia, Decreased circulating foll... OMIM:308700
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Action myoclonus, Myoclonus, Choreoathetosis, Truncal ataxia OMIM:616230
Myoclonus-Dystonia Syndrome
Myoclonus, Limb myoclonus, Torticollis, Spinal myoclonus ORPHA:36899
Epilepsy, Progressive Myoclonic, 9
Frequent falls, Gait ataxia, Action myoclonus, Myoclonus OMIM:616540
Atypical Juvenile Parkinsonism
Inability to walk, Short stepped shuffling gait, Gait ataxia, Akinesia, Shuffling gait ORPHA:391411
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign OMIM:615362
Spinocerebellar Ataxia 36
Limb ataxia, Ataxia, Babinski sign, Hearing impairment, Gait ataxia, Fasciculations, Tongue fasci... OMIM:614153
Valinemia
Hyperkinetic movements OMIM:277100
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Cryptorchidism, Decreased test... ORPHA:98754
Bor Syndrome
External ear malformation, Abnormality of the middle ear ossicles, Atresia of the external audito... ORPHA:107
Ataxia-Telangiectasia-Like Disorder
Frequent falls, Oculomotor apraxia, Ataxia, Short stature, Dysdiadochokinesis, Hypergonadotropic ... ORPHA:251347
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Intrauterine growth retardation, Short stature, Sensorineural hearing impairment, ... OMIM:608747
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortisol level, Decrea... ORPHA:293978
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Short stature OMIM:614063
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperkinetic movements, Facial diplegia, Ataxia, Sho... OMIM:617302
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Prominent crus of helix, Attention deficit hyperactivity disorder, Abnormality of ... OMIM:301013
Foxg1 Syndrome
Spasticity, Hyperkinetic movements, Severe postnatal growth retardation, Short stature, Myoclonus... ORPHA:561854
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Cryptorchidism, Decreased test... ORPHA:98793
Juvenile Huntington Disease
Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-based gait, Weight loss ORPHA:248111
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis, Myoclonus OMIM:123400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Cryptorchidism, Decreased test... ORPHA:177904
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Short statu... ORPHA:397946
Spastic Paraplegia 79B, Autosomal Recessive
Tetraparesis, Impaired vibration sensation at ankles, Ataxia, Ankle clonus, Hoffmann sign, Postur... OMIM:615491
Microtriplication 11Q24.1
Hyperkinetic movements, Attached earlobe, Posteriorly rotated ears, Speech apraxia, Short stature... ORPHA:289522
Narp Syndrome
Myoclonic spasms, Ataxia, Optic disc pallor, Short stature, Progressive gait ataxia, Hearing impa... ORPHA:644
Smith-Magenis Syndrome
Head-banging, Hyperactivity, Short stature, Abnormality of the outer ear, Hearing impairment, Abn... OMIM:182290
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Cryptorchidism, Decreased test... ORPHA:177901
14Q22Q23 Microdeletion Syndrome
Adrenal hypoplasia, Cryptorchidism, Optic nerve aplasia, Posteriorly rotated ears, Diabetes insip... ORPHA:264200
Pituitary Hormone Deficiency, Combined, 6
Reduced circulating growth hormone concentration, Short stature, Decreased circulating follicle s... OMIM:613986
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:613670
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Cogwheel rigidity, Postural tremor, Gait ataxia, Myoc... OMIM:607346
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, Rigidity, Fasciculations, Spasticity, Torticollis, Chorea, Myoclon... ORPHA:99
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Ataxia OMIM:600143
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, H... OMIM:274300
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Stereotypical hand wringing, Abnormal repetitive manneris... ORPHA:319671
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Short stature, Myoclonus, Babinski sign OMIM:619065
Spinocerebellar Ataxia 17
Parkinsonism, Limb ataxia, Ataxia, Apraxia, Rigidity, Chorea, Bradykinesia, Intention tremor, Gai... OMIM:607136
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Giant somatosensory evoked potentials, Myoclonus, Enhancement of the C-reflex OMIM:613608
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hyperkinetic movements, Ataxia, Clonus, Abnormality of extrapyramidal motor function, Rigidity, C... ORPHA:13
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Abnormal repetitive mannerisms, Hyperactivity OMIM:619470
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Abnormal repetitive mannerisms, Intrauterine growth retardation OMIM:615282
Prader-Willi-Like Syndrome
Delayed puberty, Decreased circulating gonadotropin concentration, Cryptorchidism, Decreased test... ORPHA:398073
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Somatic sensory dysfunction, Parkinsonis... ORPHA:240103
Spinocerebellar Ataxia Type 2
Parkinsonism, Kinetic tremor, Progressive cerebellar ataxia, Postural tremor, Chorea, Gait ataxia... ORPHA:98756
Spinocerebellar Ataxia 21
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Gait ataxia, Akinesia, Impulsivity OMIM:607454
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Adrenal hypoplasia, Low-set ears, Cryptorchidism, Intrauterine growth retardation, Decreased resp... OMIM:614732
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Breast hypoplasia, Short stature, Hypothalamic gonadotr... ORPHA:2235
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Morning myoclonic jerks, Paroxysmal vertigo, Myoclonus, Episodic ataxia, Truncal ataxia OMIM:607682
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Hyperkinetic movements, Myoclonus, Chorea OMIM:614254
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Crouch gait, Hyperactivity, Failure to thrive OMIM:620145
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Hemiparesis, Hemiplegia, Abnormality of extrapyramidal motor function, M... ORPHA:352596
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fascicul... ORPHA:65684
Spinocerebellar Ataxia Type 13
Limb ataxia, Torticollis, Impaired distal vibration sensation, Clumsiness, Optic disc pallor, Sho... ORPHA:98768
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Hyperkinetic movements, Cryptorchidism, Short stature, Tremor, Sensorineural hearing ... OMIM:300957
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Hypopituitarism, Decreased testicular size, Anterior pituitary hypoplasia, Anter... ORPHA:95494
Spinocerebellar Ataxia Type 26
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Progressive gait ataxia,... ORPHA:101112
Fragile X Syndrome
Recurrent hand flapping, Hyperactivity, Macrotia OMIM:300624
Deeah Syndrome
Impaired pain sensation, Low-set ears, Cryptorchidism, Decreased circulating free T4 concentratio... OMIM:619004
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Restlessness, Agitation, Short stature, Macrotia OMIM:300558
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Apraxia, T2 hypointense thalamus, Myoclonus OMIM:618193
Neurodevelopmental Disorder With Involuntary Movements
Spasticity, Hyperkinetic movements, Athetosis, Chorea, Involuntary movements OMIM:617493
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Motor tics, Compulsive behaviors OMIM:619927
Congenital Myopathy 9A
Akinesia, Obesity OMIM:618822
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Torticollis, Limb ataxia, Somatic sensory dysfunction, Postural tremor, Abnormal ... OMIM:619862
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Frequent falls, Ataxia, Cogwheel rigidity, Rigidity, Gait ataxia, Myocl... ORPHA:225154
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Anteverted ears, Microtia, first degree, Aplasia of th... OMIM:610706
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Growth delay, Hypert... OMIM:619738
Chromosome 15Q11-Q13 Duplication Syndrome
Abnormal repetitive mannerisms OMIM:608636
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Ataxia OMIM:204500
Kallmann Syndrome
Delayed puberty, Decreased testicular size, Cryptorchidism, Ataxia, Breast hypoplasia, Tremor, Hy... ORPHA:478
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity, Impulsivity OMIM:300143
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Ataxia OMIM:204300
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Decreased compound muscle... OMIM:600882
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Coffin-Siris Syndrome 7
Low-set ears, Hyperactivity, Posteriorly rotated ears, Short stature, Hearing impairment, Recurre... OMIM:618027
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Cryptorchidism, Intrauterine growth retardation, Decreased circulating follicle ... OMIM:619761
Warsaw Breakage Syndrome
Intrauterine growth retardation, Hearing impairment, Cupped ear, Hypoplasia of the cochlea, Postn... OMIM:613398
Xq28 (MECP2) duplication
Abnormal repetitive mannerisms, Dysphagia, Macrotia DECIPHER:45
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Spasticity, Hyperkinetic movements, Low-set ears, Ataxia, Bilateral sensorineural hearing impairm... OMIM:620089
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Abnormal pyramidal sign, Paresthesia, Hemiplegia/hemiparesis, Abnormality of extrapyr... ORPHA:79279
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Prolonged somatosensory evoked potentials, Myoclonus OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Limb tremor, Dysdiadochokinesis, Myoclonus, Dysmetria OMIM:256731
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Limb tremor, Hypertonia, Short stature, Myoclonus OMIM:300699
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Fasciculations OMIM:615575
Perry Syndrome
Akinesia, Weight loss, Disinhibition, Short stepped shuffling gait OMIM:168605
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Severe postnatal growth retardation, Bilateral sensorineural hearing impairment, A... ORPHA:73272
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Decreased serum estradiol, Hypothalamic gonadotropin-rel... OMIM:618841
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Choreoathetosis, Myoclonus OMIM:261630
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Ataxia, Chorea, Myoclonus, Choreoathetosis OMIM:619317
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus OMIM:615338
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Distal sensory impairment, Neuromyotonia, Fasciculations OMIM:137200
Inverted Duplicated Chromosome 15 Syndrome
Abnormal repetitive mannerisms, Low-set, posteriorly rotated ears, Hyperactivity, Hypogonadism ORPHA:3306
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Dystonia 23
Head tremor, Torticollis, Myoclonus OMIM:614860
Spinocerebellar Ataxia 2
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... OMIM:183090
Spinocerebellar Ataxia 1
Decreased sensory nerve conduction velocity, Spasticity, Paresthesia, Limb ataxia, Impaired pain ... OMIM:164400
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus OMIM:159900
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Tremor, Myoclonus, Lower limb spasticity, Dysmetria OMIM:619028
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, Rigidity, Chore... OMIM:613135
Alexander Disease Type I
Spasticity, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Ataxia, Palatal tremor ORPHA:363717
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Holoprosencephaly 9
Prominent antihelix, Cryptorchidism, Underdeveloped tragus, Anterior pituitary agenesis, Short st... OMIM:610829
Potocki-Lupski Syndrome
Hyperactivity, Short stature, Hearing impairment, Oral-pharyngeal dysphagia, Abnormal repetitive ... OMIM:610883
Aminoacylase 1 Deficiency
Hyperactivity, Sensorineural hearing impairment OMIM:609924
Autosomal Recessive Spastic Paraplegia Type 48
Parkinsonism, Ataxia, Progressive spastic paraplegia, Myoclonus, Spastic gait, Lower limb spasticity ORPHA:306511
Giant Axonal Neuropathy
Spasticity, Distal sensory impairment, Abnormality of the pituitary gland, Facial palsy, Babinski... ORPHA:643
Corticobasal Syndrome
Limb myoclonus, Parkinsonism, Somatic sensory dysfunction, Oromotor apraxia, Speech apraxia, Trem... ORPHA:454887
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Agitation, Dysphagia, Weight loss, Akinesia, Shuffling gait, Impulsivity ORPHA:411602
Developmental And Epileptic Encephalopathy 92
Spasticity, Myoclonus, Ataxia OMIM:617829
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Myoclonus, Spastic tetraplegia, Erratic myoclonus, Ataxia OMIM:619971
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Hyperactivity, Short stature OMIM:615286
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Optic atrophy, Myoclonus, Ataxia OMIM:256730
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Oculomotor apraxia, Progressive cerebellar ataxia, Spastic dysarthria, Impaired vibration sensati... ORPHA:95433
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Hyperactivity, Intrauterine growth retardation, Recurrent otitis media, Sensorineur... OMIM:617751
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Macrotia, Hearing impairment OMIM:619877
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Developmental And Epileptic Encephalopathy 23
Myoclonus, Abnormal pinna morphology OMIM:615859
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Ataxia, Paraparesis, Myoclonus, Choreoathetosis, Spastic para... ORPHA:726
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Adrenocortico... ORPHA:91349
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Hearing impairment, Growth delay, Anterior creases of e... ORPHA:1727
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Bilateral sensorineural hearing impairment, Gait ataxia, ... ORPHA:70595
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Crouzon Syndrome
Narrow internal auditory canal, Conductive hearing impairment, Hearing impairment ORPHA:207
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Neuromuscular dysphagia, Akinesia, Impulsivity ORPHA:240071
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Postural tremor, Impaired proprioception, Dysdiadochokinesis, Abno... ORPHA:98755
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, Poor fine motor coor... ORPHA:79263
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Ataxia, Protruding ear, Clumsiness, Oromotor apraxia, Paraparesis, Bradykinesia, Sens... OMIM:617854
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Christianson Syndrome
Abnormal repetitive mannerisms, Dysphagia, Macrotia ORPHA:85278
Rauch-Steindl Syndrome
Attached earlobe, Prominent crus of helix, Protruding ear, Hyperactivity, Intrauterine growth ret... OMIM:619695
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Short stature, Sensorineural hearing impairment, Stereotypical hand wringing, Abno... OMIM:600430
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Ankle clonus, Progressive gait ataxia, Intention trem... ORPHA:284289
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonus, Chorea OMIM:616139
Optic Atrophy-Intellectual Disability Syndrome
Protruding ear, Abnormal helix morphology, Attention deficit hyperactivity disorder, Short statur... ORPHA:401777
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Disinhibition OMIM:172700
Leukodystrophy, Hypomyelinating, 10
Spasticity, Hyperkinetic movements, Hypoplasia of the antihelix, Low-set ears, Hearing impairment... OMIM:616420
Short Stature, Developmental Delay, And Congenital Heart Defects
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Proportionate short sta... OMIM:617044
Mitochondrial Complex I Deficiency, Nuclear Type 28
Gastroesophageal reflux, Failure to thrive, Akinesia, Choreoathetosis, Truncal ataxia OMIM:618249
Combined Oxidative Phosphorylation Deficiency 57
Diabetes insipidus, Nephrogenic diabetes insipidus, Neonatal death, Sensorineural hearing impairm... OMIM:620167
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Rigidity, Tremor, Choreoathetosis OMIM:233910
Charge Syndrome
Delayed puberty, Low-set, posteriorly rotated ears, Hypoplasia of the semicircular canal, Externa... ORPHA:138
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Limb myoclonus, Progressive cerebellar ataxia, Myoclonus, Optic atrop... ORPHA:263516
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... OMIM:612736
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Optic neuropathy, Impaired pro... ORPHA:101
Microtia
Abnormal pinna morphology, Hypoplastic helices, Attention deficit hyperactivity disorder, Atresia... ORPHA:83463
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Synotia, Low-set, posteriorly rotated ears, Narrow internal auditory canal ORPHA:990
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Ataxia, Dysmetria OMIM:619191
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Intrauterine growth retardation, Hyperactivity, Hearing impairment ORPHA:369939
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Hyperkinetic movements, Facial diplegia, Short stature, Hearing impairment, Athetosis... OMIM:612073
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Retrocollis, Short stature, Tremor, Myoclonus OMIM:617284
4Q21 Microdeletion Syndrome
Low-set ears, Intrauterine growth retardation, Hearing impairment, Growth delay, Abnormal repetit... ORPHA:238750
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Dysphagia, Disinhibition OMIM:612069
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Prominent ear helix, Large earlobe ORPHA:411986
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Short stature, Polydipsia, Sensorineural hearing impairment, Growth... ORPHA:18
48,Xxyy Syndrome
Chronic otitis media, Attention deficit hyperactivity disorder, Hypergonadotropic hypogonadism, I... ORPHA:10
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Chorea, Myoclonus, Resting tremor, Involuntary movements, Choreoathetosis, Parox... OMIM:606703
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Tremor, Facial palsy, Myoclonus, Tongue fasciculations, Degeneration of anterior ... OMIM:159950
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Myoclonus OMIM:619303
Machado-Joseph Disease
Spasticity, Parkinsonism, Limb ataxia, Progressive cerebellar ataxia, Ataxia, Facial-lingual fasc... OMIM:109150
Autosomal Recessive Dopa-Responsive Dystonia
Parkinsonism, Ataxia, Postural tremor, Abnormality of extrapyramidal motor function, Rigidity, Br... ORPHA:101150
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Short stature, Abnormal repetitive manne... OMIM:620141
Acromelic Frontonasal Dysplasia
Hypopituitarism, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:1827
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Childhood-Onset Spasticity With Hyperglycinemia
Progressive spasticity, Ataxia, Spastic dysarthria, Spastic diplegia, Myoclonus, Babinski sign, O... ORPHA:401866
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus OMIM:619651
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral ... OMIM:602099
Parkinson Disease 17
Akinesia OMIM:614203
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Hyperinsulinemia, Tremor, Gait ataxia,... ORPHA:363400
Continuous Spikes And Waves During Sleep
Clumsiness, Hyperkinetic movements, Speech apraxia ORPHA:725
Pontocerebellar Hypoplasia, Type 1D
Spasticity, Low-set ears, Intrauterine growth retardation, Fasciculations, Tongue fasciculations OMIM:618065
Transketolase Deficiency
Attention deficit hyperactivity disorder, Hearing impairment, Abnormal repetitive mannerisms, Sec... ORPHA:488618
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Dysdiadochokinesis, Dysphagia, Gait ataxia, Akinesia, Shuffling gait ORPHA:247234
Phosphoserine Aminotransferase Deficiency
Hypertonia, Myoclonus OMIM:610992
Charcot-Marie-Tooth Disease Type 1F
Impaired pain sensation, Paresthesia, Limb ataxia, Somatic sensory dysfunction, Hand tremor, Abse... ORPHA:101085
Hsd10 Disease, Infantile Type
Hyperkinetic movements, Poor coordination, Spastic diplegia, Hearing impairment, Spastic tetrapar... ORPHA:391428
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Periodic paralysis, Hyperthyroidism, Tremor, Decreased thyroid-stimulating hormone level,... OMIM:613239
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Ataxia, Short stature, Myoclonus, Babinski sign, Optic atrophy, Truncal ataxia OMIM:252011
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Abnormal pinna morphology, Intrauterine growth retardation... ORPHA:75389
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Cryptorchidism, Clonus, Babinski sign, Short stature, Opisthoton... OMIM:619847
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Abnormal repetitive mannerisms OMIM:619150
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Abnormality of the thyroid gland, Ataxia, Clumsiness, Hypoparathyroidism, Cho... ORPHA:209905
Kufor-Rakeb Syndrome
Akinesia, Gait disturbance, Dysphagia, Ataxia OMIM:606693
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating luteinizing hormone level, Reduced response to gonadotropin-releasing hormo... OMIM:619755
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal sensory impairment, Impaired distal vibration sensation, Decreased motor nerve conduction ... OMIM:614436
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Hyperactivity, Posteriorly rotated ears, Abnormal repetitive mannerisms, Compulsive... OMIM:618430
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Central hypothyroidism, Short stature, Thyroid hypop... OMIM:301035
Pontocerebellar Hypoplasia, Type 7
Spasticity, Low-set ears, Cryptorchidism, Oculomotor apraxia, Ataxia, Spastic paraplegia, Opistho... OMIM:614969
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Spastic ataxia, Myoclonus, Spastic pa... OMIM:614487
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Protruding ear, Breast hypoplasia, Intrauterine growth retardation, Short stature... ORPHA:464306
Sandhoff Disease, Juvenile Form
Abnormal pyramidal sign, Ataxia, Abnormality of extrapyramidal motor function, Acroparesthesia, F... ORPHA:309162
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Hand tremor, Ataxia, Fasciculations, Tongue fasciculations, Degeneration of anterior... OMIM:607596
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Tetraparesis, Ankle clonus, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:613954
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Severe postnatal growth retardation, Abnormal pinna morphology, Macrotia, Myoclonus, ... ORPHA:3078
Epilepsy, Progressive Myoclonic, 6
Tremor, Myoclonus, Ataxia OMIM:614018
Isaacs Syndrome
Distal sensory impairment, Fasciculations ORPHA:84142
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent otitis media, Macrotia, Abnorm... ORPHA:449291
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Dysphagia, Gait ataxia, Impulsivity ORPHA:500180
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus OMIM:204200
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Abnormal repetitive mannerisms OMIM:617820
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Abnormal ... ORPHA:282166
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Ataxia, Cogwheel rigidity, Chorea, Bradykinesia, Intention tremor, Myoclonus, Resti... OMIM:619725
Spinocerebellar Ataxia 34
Spasticity, Abnormal pyramidal sign, Limb ataxia, Ataxia, Dysdiadochokinesis, Gait ataxia, Intent... OMIM:133190
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia OMIM:271980
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Intrauterine growth retardation, Short stature, Macrotia, Sensorineural hearing i... OMIM:151050
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Tetraparesis, Hearing impairment, Myoclonus, Hydrocele testis OMIM:618972
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Low-set ears, Hyperactivity, Sensorineural hearing impairment, Pica, ... OMIM:617796
Tay-Sachs Disease
Frequent falls, Abnormal thalamic MRI signal intensity, Progressive spasticity, Clumsiness, Ankle... ORPHA:845
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus ORPHA:166063
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hearing impairment, Anotia, Intraute... ORPHA:2306
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Abnormal pyramidal sign, Ataxia, Tremor OMIM:612016
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Hand tremor, Tetraplegia, Fasciculations, Degeneration of anterior hor... OMIM:604484
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Small for gestational age, Vomiting, Failure to thrive OMIM:619147
Lopes-Maciel-Rodan Syndrome
Bruxism, Abnormal repetitive mannerisms, Dysphagia, Agitation OMIM:617435
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadism, Reduced response to gonadotropin-releasi... OMIM:616030
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Ataxia OMIM:254800
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, Umbilical hernia, Low-set ears, Attention deficit hyperactivity d... OMIM:618205
Myoclonus, Intractable, Neonatal
Athetosis, Optic disc pallor, Myoclonus, Chorea OMIM:617235
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormo... OMIM:228300
Amyotrophic Lateral Sclerosis 1
Spasticity, Pseudobulbar paralysis, Amyotrophic lateral sclerosis, Fasciculations, Degeneration o... OMIM:105400
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Low-set ears, Bilateral conductive hearing impairment, Dysphagia OMIM:617802
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms, Abnormal antihelix morphology, Protruding ear, Growth delay ORPHA:261144
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Hyperactivity, Broad-based gait, Shuffling gait ORPHA:3077
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Bruxism, Macrotia, Stereotypical hand wringing, Abnormal repetitive mannerisms, Po... OMIM:300912
Leigh Syndrome
Spasticity, Hyperkinetic movements, Abnormal thalamic MRI signal intensity, Ataxia, Intrauterine ... ORPHA:506
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia ORPHA:324588
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Ataxia, Limb hypertonia, Short stature, Rigidity, Tremor, Abnormality of coordination... ORPHA:442835
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Abnormal repetitive mannerisms, Hearing impairment OMIM:616351
Tick-Borne Encephalitis
Hyperkinetic movements, Abnormal cranial nerve morphology, Tinnitus, Somatic sensory dysfunction,... ORPHA:297
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Oculomotor apraxia, Ataxia, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spasti... ORPHA:313772
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Tremor OMIM:616494
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Spasticity, Ataxia, Blepharospasm, Clumsiness, Optic disc pallor, Rigidity, Chorea, Athetosis, My... OMIM:617282
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Distal sensory impairment, Ataxia, Tremor, Gait ataxia, Intention tremor, Myoclonus, Babinski sig... OMIM:616505
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Dysdiadochokinesis, Intention tremor, Myoclonus, Bab... OMIM:618356
47,Xyy Syndrome
Low-set ears, Hyperactivity, Attention deficit hyperactivity disorder, Azoospermia, Male infertil... ORPHA:8
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Gastroesophageal reflux, Hyperactivity, Ataxia, Unsteady gait, Failure to thrive, Constipation, P... OMIM:617865
Cri-Du-Chat Syndrome
Low-set ears, Hyperactivity, Overfriendliness, Abnormal pinna morphology, Hearing impairment, Ste... OMIM:123450
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Amyotrophic Lateral Sclerosis 18
Spasticity, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Short stature, Growth delay, Abnormal repetitive mannerisms ORPHA:228402
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619690
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Spastic tetraplegia, Short stature, Opisthotonus, Large earlobe, Myoclonus, Optic atr... OMIM:615851
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Type I diabetes mellitus, Ataxia, Hearing impairment OMIM:560000
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Myoclonus OMIM:618357
D-Glyceric Aciduria
Spasticity, Chorea, Myoclonus, Hearing impairment ORPHA:941
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Low-set ears, Intrauterine growth retardation ORPHA:2570
Autism, Susceptibility To, X-Linked 2
Abnormal repetitive mannerisms OMIM:300495
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Behavioral Variant Of Frontotemporal Dementia
Abnormal repetitive mannerisms, Restlessness, Disinhibition, Collectionism ORPHA:275864
Congenital Myopathy 12
Akinesia, Small for gestational age OMIM:612540
Pontocerebellar Hypoplasia, Type 4
Spasticity, Hypertonia, Myoclonus OMIM:225753
X-Linked Cerebral Adrenoleukodystrophy
Limb myoclonus, Oculomotor apraxia, Hemiparesis, Ataxia, Lower limb spasticity, Ankle clonus, Hof... ORPHA:139396
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms OMIM:617393
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Umbilical hernia, Recurrent otitis media, Sensorineural hearing impairment, Congenital sensorineu... ORPHA:500159
Mitochondrial Complex I Deficiency, Nuclear Type 19