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

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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 Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Fraxe Intellectual Disability
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypica... ORPHA:100973
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Pituitary Carcinoma
Enlarged pituitary gland, Abnormal central motor function, Ataxia, Elevated circulating growth ho... ORPHA:300385
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ... ORPHA:453533
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Low-set ears ORPHA:436151
Spastic Paraplegia 70, Autosomal Recessive
Somatic sensory dysfunction, Sensorineural hearing impairment, Growth delay, Ankle clonus, Fascic... OMIM:620323
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... OMIM:618157
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation DECIPHER:8
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Small pituitary ... OMIM:612702
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Hyperactivity, Short stature OMIM:300271
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Ataxia, Postnatal gr... OMIM:616113
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive... OMIM:615541
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... OMIM:611584
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, Progressive gait ataxia, Bilateral sensorineural hearing impairmen... ORPHA:2589
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Abnormal pyramidal sign, Imp... ORPHA:95434
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... OMIM:173100
Joubert Syndrome 38
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Posteriorly rotated ea... OMIM:619476
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary glan... OMIM:612079
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
7Q31 Microdeletion Syndrome
Hyperactivity, Postnatal growth retardation, Hypoplasia of the cochlea, Hypoplasia of the semicir... ORPHA:251061
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... ORPHA:90646
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Rigidity, Optic atrophy, Growth delay, Focal T2 hyperintense thalamic lesio... OMIM:619057
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... OMIM:609425
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Panhypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95513
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Adenohypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95512
Schizophrenia 15
Hyperactivity OMIM:613950
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Hyperactivity, Aggressive behavior, Hearing impairment OMIM:620270
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... OMIM:618160
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Spinocerebellar Ataxia 13
Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, Limb ataxia, Gait at... OMIM:605259
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal pinna morphology, Vertigo, Small pituitary gland, Severe sensorineura... OMIM:614195
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... ORPHA:363710
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Recessive 58
Short stature, Aggressive behavior, Pica, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Congenital Disorder Of Glycosylation, Type Iiq
Spastic tetraplegia, Small pituitary gland OMIM:617395
Cog2-Cdg
Spastic tetraplegia, Small pituitary gland ORPHA:435934
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... ORPHA:98810
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Septooptic Dysplasia
Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ant... OMIM:182230
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Noonan Syndrome
Low-set, posteriorly rotated ears, Short stature, Hypogonadotropic hypogonadism, Aplasia of the s... ORPHA:648
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Proportionate short stature... ORPHA:54595
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Ataxia, Elevated circulati... ORPHA:300373
Ane Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Anterior pituitary hypoplasia, Decre... ORPHA:157954
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa... OMIM:618718
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... ORPHA:67045
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Hearing impairment, Impaired d... OMIM:616688
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
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Hydranencephaly
Optic nerve hypoplasia, Postnatal growth retardation, Thalamic edema, Spastic diplegia, Opisthoto... ORPHA:2177
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Sensorineural hearing impairment, Ataxia, Myoclonus, Spasticity OMIM:545000
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements OMIM:618425
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Macrotia, Hyperkinetic movements ORPHA:397933
Combined Saposin Deficiency
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations OMIM:611721
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Slurred speech, Euthyroid goiter, Myoclonus, Nonprogressive cer... ORPHA:3327
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Aggressive behavior OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Short stature, Birth length less than 3rd percentile, I... OMIM:614104
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Decreased response to growth hormone stimulation test, Dilatated intern... ORPHA:1435
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Optic ner... ORPHA:3157
Developmental And Epileptic Encephalopathy 37
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Myoclonus, Spasticity OMIM:616981
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Hypoesthesia, Paresthesia, F... ORPHA:93921
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Myoclonus... ORPHA:391417
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Distal sensory impairment OMIM:615048
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... ORPHA:240094
Branchiootorenal Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:113650
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Congenital Disorder Of Glycosylation, Type In
Short stature, Ataxia, Sensorineural hearing impairment, Myoclonus, Spasticity OMIM:612015
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Mild short stature,... OMIM:620292
Sandhoff Disease, Adult Form
Tremor, Spasticity, Fasciculations, Gait ataxia ORPHA:309169
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Abnormal repetitive mannerisms, Recurrent hand flapping, Short stature, Dysphagia OMIM:617862
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Myoclonus, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Pituitary dwarfism, Ectopic posterior pituitary, Hyp... ORPHA:226307
Thyrocerebroretinal Syndrome
Ataxia, Sensorineural hearing impairment, Slurred speech, Myoclonus, Goiter OMIM:274240
Fg Syndrome Type 1
Short stature, Optic nerve hypoplasia, Cryptorchidism, Sensorineural hearing impairment, Cupped e... ORPHA:93932
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Hyperkinetic movements, Choreoathetosis, Myoclonus OMIM:618497
Sheehan Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:91355
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... OMIM:620021
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Diabetes mellitus, Short stature, Fasciculations OMIM:610717
Distal Deletion 10Q
Short stature, Aggressive behavior, Postnatal growth retardation, Congenital sensorineural hearin... ORPHA:96148
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... OMIM:620158
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Hypothyroidism, Myoclonus OMIM:619647
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Impaired temperature sensation, Precocious pub... ORPHA:398079
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Decreased response to growth hormone stimulation test, Tremor, Hyperkinetic moveme... ORPHA:457240
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction ORPHA:401901
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Short stature, Abnormality of the middle ear... ORPHA:50815
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Short stature, Self-mutilation OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Macrotia, Abnormal repetitiv... ORPHA:391307
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Intrauterine growth retardation, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Spastic te... OMIM:618598
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... OMIM:308750
Charge Syndrome
Hypoparathyroidism, Mixed hearing impairment, Hypogonadotropic hypogonadism, Decreased response t... OMIM:214800
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Episodic Ataxia Type 7
Episodic ataxia, Vertigo, Hyperkinetic movements, Tinnitus ORPHA:209970
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Hy... ORPHA:91351
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Short stature, Aggressive behavior, Sensorineural hearing impairment, Protruding e... OMIM:618342
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Tongue f... ORPHA:276435
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cryptorchidism, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears... ORPHA:352490
Spinocerebellar Ataxia Type 36
Ataxia, Vertigo, Babinski sign, Truncal ataxia, Hand tremor, Dysmetria, Limb ataxia, Tongue fasci... ORPHA:276198
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Short stature, Impaired temperature sensation, Precocious puberty, Cryptorchi... ORPHA:398069
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus ORPHA:36899
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Prader-Willi Syndrome
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Impaired... ORPHA:739
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Optic atrophy, Myoclonus, Hearing impairment OMIM:609056
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Spinocerebellar Ataxia, Autosomal Recessive 10
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor OMIM:613728
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Pontocerebellar Hypoplasia, Type 11
Short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macr... OMIM:617695
Webb-Dattani Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:615926
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus OMIM:125370
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Perry Syndrome
Akinesia, Weight loss, Inappropriate behavior, Disinhibition, Short stepped shuffling gait OMIM:168605
Culler-Jones Syndrome
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Hypogo... OMIM:615849
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Choreoathetosis, Myoclonus, Progressive sensorineural hearing impairment, Frequent falls OMIM:301020
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Hyperkinetic movements, Myoclonus OMIM:618285
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Abnormal lower motor neuron morphology, Tremor, ... ORPHA:2590
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Hearing impairment ORPHA:139485
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to growth horm... ORPHA:90695
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia, Cong... OMIM:300624
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... OMIM:619092
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Low-set ears, Maternal diabetes ORPHA:563612
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Bilateral ... OMIM:613457
Microphthalmia, Syndromic 3
Optic nerve aplasia, Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism,... OMIM:206900
Alobar Holoprosencephaly
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... ORPHA:93926
Lobar Holoprosencephaly
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... ORPHA:93924
Semilobar Holoprosencephaly
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... ORPHA:220386
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Posteriorly rotated ears, Disproportionate short-limb short stature, Low-s... OMIM:619479
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe OMIM:300143
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short stature, Aggressive behavior, Agitation, Macrotia OMIM:300558
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Tremor, Progressive hearing impairment, Hypogonadism, Ab... ORPHA:97229
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Alazami Syndrome
Abnormal eating behavior, Postnatal growth retardation, Low-set ears, Abnormal repetitive manneri... ORPHA:319671
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Short stature, Absent pubertal growth spurt, Ataxia, Puberty and gonadal d... ORPHA:464282
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy OMIM:618218
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus OMIM:162350
Episodic Ataxia, Type 5
Ataxia, Vertigo, Myoclonus, Truncal ataxia, Episodic ataxia OMIM:613855
Mitochondrial Complex I Deficiency, Nuclear Type 31
Sensorineural hearing impairment, Myoclonus, Dysmetria OMIM:618251
Tsh-Secreting Pituitary Adenoma
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... ORPHA:91347
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Spasticity, Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Int... OMIM:608747
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Fasciculations, Distal sensory impairment OMIM:606595
Coffin-Siris Syndrome 6
Short stature, Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity diso... OMIM:617808
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Choreoathetosis, Myoclonus, Intrauterine growth retardation, Spasticity OMIM:617065
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal semicircular canal morp... ORPHA:87
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action myoclonus OMIM:616230
Smith-Magenis Syndrome
Hyperactivity, Short stature, Abnormality of the outer ear, Self hugging, Head-banging, Onychotil... OMIM:182290
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... OMIM:308700
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Hyperactivity, Short stature, Aggressive behavior OMIM:615286
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Epilepsy, Progressive Myoclonic, 9
Action myoclonus, Frequent falls, Myoclonus, Gait ataxia OMIM:616540
Manganese Poisoning
Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughter, Compulsi... ORPHA:306682
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Spinocerebellar Ataxia 36
Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, Tongue fasciculation... OMIM:614153
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-bitin... ORPHA:3306
Foxg1 Syndrome
Short stature, Choreoathetosis, Severe postnatal growth retardation, Hyperkinetic movements, Myoc... ORPHA:561854
Ataxia-Telangiectasia-Like Disorder
Hypergonadotropic hypogonadism, Short stature, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadoch... ORPHA:251347
Bor Syndrome
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... ORPHA:107
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Short stature, Aggressive behavior, Sensorineural hearing impairment, Self-injurio... OMIM:600430
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Short stature, Optic nerve hypoplasia, Ataxia, Gait ... OMIM:617302
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Valinemia
Hyperkinetic movements OMIM:277100
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98754
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Ho... OMIM:615491
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus OMIM:159900
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Weight loss, Gait ataxia, Progressive cerebellar ataxia ORPHA:248111
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... ORPHA:397946
Narp Syndrome
Optic disc pallor, Short stature, Ataxia, Babinski sign, Progressive gait ataxia, Myoclonic spasm... ORPHA:644
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Intrauterine growth retardation, Hyperactivity, Aggressive behavior, Hearing impairment ORPHA:369939
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Posteriorly rotated ears, Short stature, Anterior pituitary hypoplasia, Adre... ORPHA:264200
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98793
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... OMIM:613986
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177904
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Myoclonus OMIM:600143
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177901
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex, Myoclonus OMIM:613608
Spinocerebellar Ataxia 17
Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Bradykinesia, Positi... OMIM:607136
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Action tr... OMIM:619738
Aminoacylase 1 Deficiency
Hyperactivity, Sensorineural hearing impairment OMIM:609924
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Ataxia, Babinski sign, Spastic diplegia, Myoclonus OMIM:619065
Microtriplication 11Q24.1
Attached earlobe, Speech apraxia, Posteriorly rotated ears, Short stature, Hyperkinetic movements... ORPHA:289522
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... ORPHA:98756
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Paroxysmal vertigo, Myoclonus, Truncal ataxia, Morning myoclonic jerks, Episodic ataxia OMIM:607682
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Hyperkinetic movements, Myoclonus, Spasticity OMIM:614254
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... ORPHA:13
Intellectual Developmental Disorder, X-Linked 12
Short stature, Tremor, Cryptorchidism, Sensorineural hearing impairment, Hyperkinetic movements, ... OMIM:300957
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad... ORPHA:2235
Xq28 (MECP2) duplication
Macrotia, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function... ORPHA:352596
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Short stature, Impaired distal vibration sensation, Optic atrophy... ORPHA:98768
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal growth retar... OMIM:614732
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Crouch gait, Failure to thrive, Gait ataxia OMIM:620145
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased resp... ORPHA:95494
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Deeah Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:619004
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Short stature, Severe temper tantrums, Low-set ears, Com... OMIM:618027
Christianson Syndrome
Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia ORPHA:85278
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Babinski sign, Myoclonus, Apraxia OMIM:618193
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Spasticity OMIM:617493
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Short stature, Postnatal growth retardation, Congenital sensorineural hearing impa... ORPHA:73272
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Hearing impairment ORPHA:457260
Dentici-Novelli Neurodevelopmental Syndrome
Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function OMIM:204300
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi... ORPHA:225154
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
4Q21 Microdeletion Syndrome
Growth delay, Self-injurious behavior, Low-set ears, Intrauterine growth retardation, Abnormal re... ORPHA:238750
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus OMIM:204500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Short stature, Aggressive behavior, Prominent crus of helix, Pos... OMIM:619695
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Short stature, Limb tremor, Myoclonus OMIM:300699
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus OMIM:256731
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Babinski sign, Optic atrophy, Gait ataxia, Hyperkinetic movements, Bilateral sensorineura... OMIM:620089
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased compound muscle... OMIM:600882
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Prolonged somatosensory evoked potentials, Hand tremor, Myoclonus OMIM:608105
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Warsaw Breakage Syndrome
Postnatal growth retardation, Hypoplasia of the cochlea, Cupped ear, Intrauterine growth retardat... OMIM:613398
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Dysmetria, Decreased circulating luteinizing hormo... OMIM:619761
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Vertigo, Optic atrophy, Abnormal pyramidal sign, Abnormality of extrapyra... ORPHA:79279
Short Stature, Developmental Delay, And Congenital Heart Defects
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... OMIM:617044
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Tr... ORPHA:478
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Fasciculations OMIM:615575
Potocki-Lupski Syndrome
Hyperactivity, Short stature, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, Hearing ... OMIM:610883
Giant Axonal Neuropathy
Facial palsy, Babinski sign, Abnormal pituitary gland morphology, Distal sensory impairment, Spas... ORPHA:643
Developmental And Epileptic Encephalopathy 6B
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus OMIM:619317
Holoprosencephaly 9
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:610829
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Choreoathetosis, Myoclonus OMIM:261630
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypoplasia of the ovary, ... OMIM:618841
Developmental And Epileptic Encephalopathy 16
Hemiparesis, Optic atrophy, Myoclonus, Abnormality of extrapyramidal motor function OMIM:615338
Hereditary Late-Onset Parkinson Disease
Akinesia, Impulsivity, Weight loss, Chronic constipation, Agitation, Shuffling gait, Dysphagia ORPHA:411602
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Neuromyotonia, Fasciculations, Distal sensory impairment OMIM:137200
Dystonia 23
Torticollis, Myoclonus, Head tremor OMIM:614860
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dys... OMIM:183090
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Impaired vibratory sensation, Impai... OMIM:164400
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Attention de... ORPHA:83463
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Intrauteri... OMIM:617751
Alexander Disease Type I
Ataxia, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Spasticity, Palatal tremor ORPHA:363717
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Optic atrophy, Myoclonus, Ataxia OMIM:256730
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Classic Progressive Supranuclear Palsy Syndrome
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance ORPHA:240071
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe ORPHA:411986
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia ORPHA:306511
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod... OMIM:617865
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Spastic tetraplegia, Ataxia, Myoclonus, Erratic myoclonus OMIM:619971
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involuntary movements, T... ORPHA:454887
Developmental And Epileptic Encephalopathy 92
Spasticity, Ataxia, Myoclonus OMIM:617829
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, ... ORPHA:95433
Epilepsy, Progressive Myoclonic, 12
Ataxia, Myoclonus, Dysmetria OMIM:619191
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Growth delay, Compulsive behaviors, Attention deficit hyperactivity ... ORPHA:1727
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Developmental And Epileptic Encephalopathy 23
Abnormal pinna morphology, Myoclonus OMIM:615859
48,Xxyy Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, Attention deficit hyper... ORPHA:10
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Abnormal vestibular function, Impaired distal proprioception, Abnor... ORPHA:70595
Distal Renal Tubular Acidosis
Short stature, Sensorineural hearing impairment, Growth delay, Polydipsia, Enlarged vestibular aq... ORPHA:18
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Hearing impairment ORPHA:207
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... ORPHA:79263
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Transketolase Deficiency
Secondary amenorrhea, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:488618
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,... OMIM:618430
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... ORPHA:314632
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Gait disturbance, Dysphagia OMIM:606693
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Optic atrophy, Slurred speech, Dysmetria, Impaired proprioception, Brady... ORPHA:98755
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Optic atrophy, Progressive cerebellar ataxia, Chin myoclonus, Myoclon... ORPHA:263516
2Q23.1 Microdeletion Syndrome
Hyperactivity, Short stature, Polyphagia, Growth delay, Self-injurious behavior, Abnormal repetit... ORPHA:228402
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ataxia, Progressive ... ORPHA:284289
Optic Atrophy-Intellectual Disability Syndrome
Short stature, Repetitive compulsive behavior, Protruding ear, Compulsive behaviors, Abnormal hel... ORPHA:401777
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Hyperkinetic movements, Low-set ears, Hypoplasia of the antihelix, Spasticity, Hea... OMIM:616420
Developmental And Epileptic Encephalopathy 27
Chorea, Myoclonus, Spasticity OMIM:616139
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Limb hypertonia OMIM:233910
Mitochondrial Complex I Deficiency, Nuclear Type 28
Akinesia, Choreoathetosis, Gastroesophageal reflux, Truncal ataxia, Failure to thrive OMIM:618249
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dilated... OMIM:619725
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hea... OMIM:617796
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Synotia ORPHA:990
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Growth delay, Lo... OMIM:123450
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus OMIM:619651
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Sensorineural hearing impairment, Oromotor apraxia, C... OMIM:617854
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment OMIM:300406
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, St... OMIM:618917
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Spasticity OMIM:617284
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Short stature, Sensorineural hearing impairment, Facial diplegia, Athetosis, Hyperkinetic movemen... OMIM:612073
Charge Syndrome
Low-set, posteriorly rotated ears, Short stature, External ear malformation, Postnatal growth ret... ORPHA:138
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormal pinna morphology, Short stature, Abnormality of the anterior pituitary, Posterior pituit... ORPHA:75389
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Freq... OMIM:159950
47,Xyy Syndrome
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Low-s... ORPHA:8
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Myoclonus OMIM:619303
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Bulimia, Self-biting, Stereotyp... OMIM:300912
Continuous Spikes And Waves During Sleep
Speech apraxia, Hyperkinetic movements, Clumsiness ORPHA:725
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Machado-Joseph Disease
Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi... OMIM:109150
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Parkinson Disease 17
Akinesia OMIM:614203
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ataxia, Babinski sign, Optic atrophy, Myoclonus, Truncal ataxia, Spasticity OMIM:252011
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Hyperinsulinemia, Abnormal pyramidal sign, Gait ataxia, ... ORPHA:363400
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Hyperk... ORPHA:391428
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Pontocerebellar Hypoplasia, Type 1D
Tongue fasciculations, Low-set ears, Fasciculations, Intrauterine growth retardation, Spasticity OMIM:618065
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Ab... ORPHA:500159
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia ORPHA:247234
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Umbilical hernia, Abnormal... OMIM:618914
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms OMIM:617393
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Fas... OMIM:607596
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Babinski sign, Optic atrophy, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus... ORPHA:401866
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Fasciculations, D... OMIM:614436
Galloway-Mowat Syndrome 6
Short stature, Growth delay, Intrauterine growth retardation, Abnormal repetitive mannerisms, Par... OMIM:618347
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, Oculomotor... OMIM:614487
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus OMIM:204200
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Aggressive behavior OMIM:300894
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Protruding ear, ... ORPHA:464306
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Short stature, Clonus, Cryptorchidism, Sensorineural hearing impairment, Babinski... OMIM:619847
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia OMIM:271980
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus OMIM:614018
Severe X-Linked Intellectual Disability, Gustavson Type
Abnormal pinna morphology, Optic atrophy, Severe postnatal growth retardation, Hypertonia, Myoclo... ORPHA:3078
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Impotence, Progressive hearing impairment, Disinhibition, Att... ORPHA:43
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... OMIM:613954
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Isaacs Syndrome
Fasciculations, Distal sensory impairment ORPHA:84142
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Failure to thrive, Vomiting, Akinesia OMIM:619147
Sandhoff Disease, Juvenile Form
Incoordination, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Fa... ORPHA:309162
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Pontocerebellar Hypoplasia, Type 7
Ataxia, Cryptorchidism, Spastic paraplegia, Optic atrophy, Opisthotonus, Choreoathetosis, Hyperto... OMIM:614969
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Chronic otitis media, Intrauterine growth retardation, Self-mutilat... ORPHA:412035
Spinocerebellar Ataxia 34
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... OMIM:133190
Isotretinoin-Like Syndrome
Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of t... ORPHA:2306
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Sensorineural hearing impairment, I... OMIM:151050
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... OMIM:619580
Lopes-Maciel-Rodan Syndrome
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:617435
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Fascicu... OMIM:604484
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus OMIM:254800
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Precocious puberty, Tremor, Optic atrophy, Abnormal... ORPHA:845
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... ORPHA:33543
Snijders Blok-Campeau Syndrome
Umbilical hernia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-s... OMIM:618205
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, Repetitive compulsive behavior, Dysphagia, Low-set ears, Bruxism, Macrotia, Abnor... OMIM:300260
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Bilateral conductive hearing impairment, Low-set ears, Dysphagia OMIM:617802
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Frequent te... OMIM:619103
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypert... OMIM:618356
Encephalopathy Due To Prosaposin Deficiency
Myoclonus ORPHA:139406
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... OMIM:105400
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Attention deficit hyperactivity... OMIM:620242
Myoclonus, Intractable, Neonatal
Optic disc pallor, Chorea, Athetosis, Myoclonus OMIM:617235
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia ORPHA:324588
Lamb-Shaffer Syndrome
Abnormal repetitive mannerisms, Hyperactivity, Mild postnatal growth retardation, Abnormal temper... ORPHA:530983
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Con... ORPHA:98794
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Myoclonus, Tetraparesis, Spasticity, Hearing impairment OMIM:618972
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Opti... ORPHA:442835
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... OMIM:616030
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Growth delay, Inappropriate laughter, Low-set ears, Self-muti... OMIM:103050
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Short stature ORPHA:280763
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Incoordination, Short stature, Atax... ORPHA:209905
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... OMIM:613174
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... OMIM:617282
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, Oculom... ORPHA:313772
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Eyelid myoclonus OMIM:618357
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Ileus, Athetosis, Constipation, Self-mutilation ORPHA:52503
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Distal sensory impairment, ... OMIM:616505
Leigh Syndrome
Ataxia, Involuntary movements, Sensorineural hearing impairment, Chorea, Optic atrophy, Abnormal ... ORPHA:506
Ritscher-Schinzel Syndrome 4
Short stature, Impulsivity, Aggressive behavior, Dysphagia, Macrotia, Abnormal repetitive mannerisms OMIM:619435
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Prominent antihelix, Abnormal repetitive mannerisms OMIM:617807
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus ORPHA:166063
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Myoclonus OMIM:610090
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Cryptorchidism, Low-set ears, Attention deficit hyperactivity disorder,... OMIM:619293
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Incoordination, Facial palsy, Paralysis, Tremor, Ver... ORPHA:297
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Hijazi-Reis Syndrome
Postnatal growth retardation, Abnormal repetitive mannerisms OMIM:301094
Pontocerebellar Hypoplasia, Type 2E
Short stature, Optic atrophy, Spastic tetraplegia, Opisthotonus, Large earlobe, Hypertonia, Myocl... OMIM:615851
Congenital Disorder Of Glycosylation, Type Iia
Short stature, Posteriorly rotated ears, Aggressive behavior, Postnatal growth retardation, Senso... OMIM:212066
D-Glyceric Aciduria
Chorea, Myoclonus, Spasticity, Hearing impairment ORPHA:941
Peho-Like Syndrome
Optic atrophy, Myoclonus OMIM:617507
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Ataxia, Myoclonus, Hearing impairment OMIM:560000
Pontocerebellar Hypoplasia, Type 4
Spasticity, Hypertonia, Myoclonus OMIM:225753
Congenital Myopathy 12
Small for gestational age, Akinesia OMIM:612540
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations OMIM:613435
Combined Oxidative Phosphorylation Deficiency 57
Nephrogenic diabetes insipidus, Sensorineural hearing impairment, Myoclonus, Neonatal death, Cent... OMIM:620167
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Umbilical hernia, Abnormal repetitive mannerisms, Low-set ears, Overfriendliness OMIM:616579
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements OMIM:618374
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Decreased circulating cortisol level, Ataxia, Spastic tetraparesis, Hoffma... ORPHA:139396
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet... OMIM:616393
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Prader-Willi Syndrome Due To Translocation
Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177907
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Athetosis, Optic atrophy, Myoclonus OMIM:618241
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Large earlobe, Low-set ears, Dysphagia, Conductive hearing impa... OMIM:619312
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Lower limb spasticity, Babinski sign, Fasciculations OMIM:615290
Sialidosis Type 1
Short stature, Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairm... ORPHA:812
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia, Short stature, Anterior pituitary hypoplasia, Uplifted earlobe, Cryptorchi... OMIM:619841
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Saethre-Chotzen Syndrome
Short stature, Prominent crus of helix, External ear malformation, Sensorineural hearing impairme... ORPHA:794
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Hyperkinetic movements, Macrotia, Ataxia, Truncal ataxia OMIM:300243
Nipah Virus Disease
Tremor, Vertigo, Myoclonus ORPHA:99825
Hemimegalencephaly
Hemiparesis, Optic atrophy, Myoclonus, Abnormal neuron morphology ORPHA:99802
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykinesia, Hype... OMIM:618877
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Tremor, Thyrotoxicosis with diffuse goiter, Increased circulating ... ORPHA:525731
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:252920
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Limb hypertonia, Fasciculations, Intrauteri... OMIM:620327
Neuraminidase Deficiency
Short stature, Sensorineural hearing impairment, Slurred speech, Dysmetria, Myoclonus OMIM:256550
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Ataxia, Tremor, Opisthotonus, Growth delay, Choreoathetosis, Hyperkinetic movements, ... OMIM:616271
Chromosome 15Q11.2 Deletion Syndrome
Short stature, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal... OMIM:615656
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Cryptorchidism, Chorea, Progressive cerebellar ataxia, Upper limb spastici... ORPHA:485350
Postencephalitic Parkinsonism
Vomiting, Akinesia, Dysphagia ORPHA:97349
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Myoclonus, Low-set ears, Spasticity, Hea... ORPHA:93399
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Ataxia, Myoclonus OMIM:620094
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, T2 hypointense thalamus, Chorea, Babinski si... ORPHA:157846
Bilateral Generalized Polymicrogyria
Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Abnormal repetit... ORPHA:208447
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fasciculations OMIM:608030
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Compulsive behaviors, Abnormal re... OMIM:610253
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Postnatal growth retardation, Abnormal repetitive mannerisms ORPHA:529965
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... ORPHA:204
Sialuria
Cholelithiasis, Hyperkinetic movements, Low-set ears ORPHA:3166
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Short stature, Uplifted earlobe, Cryptorchidism, Babinski sign, Myoclonus, Sp... ORPHA:364028
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Short stature, Abnormal pinna morphology, Tics, Low-set ears, Chronic otitis media... ORPHA:261211
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short stature, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitive mannerisms OMIM:615802
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Short stature, Postnatal growth retardation, Tongue thrusting, Self-injurious beha... ORPHA:261323
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Abnormality of the diencephalon, Low-set ears ORPHA:2570
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Short stature, Aggressive behavior, Abnormal repetitive ... OMIM:616364
Phosphoserine Aminotransferase Deficiency
Hypertonia, Myoclonus OMIM:610992
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Decreased response to growth hormone stimulation test, Cryptorchidism... OMIM:619503
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... OMIM:614897
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... OMIM:607876
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Fasciculations OMIM:313200
Cerebral Creatine Deficiency Syndrome 1
Short stature, Aggressive behavior, Underfolded superior helices, Attention deficit hyperactivity... OMIM:300352
Smith-Magenis Syndrome
Short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, Delayed puberty... ORPHA:819
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia OMIM:250620
Gaucher Disease, Type Iii
Short stature, Myoclonus, Ataxia, Spastic paraparesis OMIM:231000
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ataxia, Myoclonus OMIM:618225
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Progressive extrapyr... ORPHA:53351
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616437
9P13 Microdeletion Syndrome
Short stature, Abnormality of cartilage of external ear, Precocious puberty, Hand tremor, Myoclon... ORPHA:324313
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short stature, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention defi... OMIM:300986
Hyperekplexia 4
Hypertonia, Myoclonus OMIM:618011
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased circulating free fatty acid level, Large for gestational age ORPHA:293964
Neurodevelopmental Disorder With Spasticity And Poor Growth
Short stature, Clonus, Ataxia, Babinski sign, Opisthotonus, Growth delay, Large earlobe, Limb hyp... OMIM:618076
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness... ORPHA:88644
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment OMIM:604218
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Short stature, Congenital sensorineural hearing impairment, Fusion of m... OMIM:157800
Developmental And Epileptic Encephalopathy 89
Asymmetry of the ears, Hypertonia, Hyperkinetic movements, Tetraparesis, Low-set ears, Neonatal d... OMIM:619124
Huntington Disease
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Poor fi... ORPHA:399
Microcephaly-Capillary Malformation Syndrome
Short stature, Spastic tetraparesis, Optic atrophy, Myoclonus, Low-set ears, Hearing impairment OMIM:614261
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Ataxia, Postnatal growth retardation, Spastic paraplegia, Decreased thalamic volum... ORPHA:168577
Early Myoclonic Encephalopathy
Myoclonus ORPHA:1935
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Gait disturbance, Dysphagia, Obses... OMIM:234200
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set e... OMIM:619575
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Spasticity, Opisthotonus, Growth delay, Choreoathetosis, Hypertonia, Abn... ORPHA:445038
Pilarowski-Bjornsson Syndrome
Postnatal growth retardation, Abnormal repetitive mannerisms OMIM:617682
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Glycine Encephalopathy 1
Myoclonus OMIM:605899
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Optic atrophy, Opisthotonus, Myoclonus, L... OMIM:620352
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Sensorineural hearing impairment OMIM:609727
Hereditary Hyperekplexia
Ataxia, Rigidity, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Episodic ataxia, Choreoathetosis, Myoclonus OMIM:312170
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Developmental And Epileptic Encephalopathy 54
Myoclonus OMIM:617391
Citrullinemia Type Ii
Restlessness, Hyperactivity, Hypertriglyceridemia, Aggressive behavior, Abnormal eating behavior,... ORPHA:247585
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Short stature, Protruding ear ORPHA:2479
2Q37 Microdeletion Syndrome
Short stature, Attention deficit hyperactivity disorder, Compulsive behaviors, Conductive hearing... ORPHA:1001
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypertonia, Hyperkinetic movements OMIM:236270
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level OMIM:202150
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Ataxia, Hypertonia, Abnormality of the diencephalon, Hearing impairment ORPHA:2720
D-Glyceric Aciduria
Optic nerve hypoplasia, Sensorineural hearing impairment, Spastic tetraplegia, Opisthotonus, Grow... OMIM:220120
Duplication Of The Pituitary Gland
Lower limb spasticity, Short stature, Abnormal pituitary gland morphology, Abnormal hypothalamus ... ORPHA:314621
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Opisthotonus, Myoclonus, Tetraparesis, Hearing impairment OMIM:616672
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor ORPHA:420485
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... ORPHA:206436
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Abnormality of the outer ear, A... ORPHA:435638
Wiedemann-Steiner Syndrome
Hyperactivity, Rhizomelia, Short stature, Aggressive behavior, Postnatal growth retardation, Low-... ORPHA:319182
Gaucher Disease, Perinatal Lethal
Decreased body weight, Akinesia, Dysphagia OMIM:608013
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Righ... OMIM:607426
Lennox-Gastaut Syndrome
Myoclonus ORPHA:2382
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Speech apraxia, Ataxia, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchi... ORPHA:466791
Myoclonic Epilepsy Of Infancy
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination ORPHA:86909
Rett Syndrome, Congenital Variant
Tongue thrusting, Abnormal repetitive mannerisms, Bruxism, Protruding ear OMIM:613454
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Amyotrophic Lateral Sclerosis 8
Postural tremor, Amyotrophic lateral sclerosis, Abnormal pyramidal sign, Fasciculations OMIM:608627
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Intention tremor OMIM:610539
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Abnormal repetitive mannerisms OMIM:618067
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetitive mannerisms, ... ORPHA:261197
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Short stature, Aggressive behavior, Abnormal repetitive ... ORPHA:468678
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:610042
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Brody Disease
Somatic sensory dysfunction, Fasciculations OMIM:601003
Sandhoff Disease, Infantile Form
Exaggerated startle response, Abnormal thalamic MRI signal intensity, Spasticity, Myoclonus ORPHA:309155
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Myoclonus OMIM:617290
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spasticity OMIM:221770
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Chronic otitis media, Spasticity, Darwin tubercle of helix, Myoclonus OMIM:612949
Japanese Encephalitis
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... ORPHA:79139
Schindler Disease, Type I
Spasticity, Optic atrophy, Myoclonus OMIM:609241
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Gait ataxia ORPHA:48818
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Short stature, Cranial nerve compression, Abnormal motor neuron mo... ORPHA:52430
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Optic atrophy, Tetraplegia, Growth delay, Fasciculations, Progressive spasticity, Cataple... ORPHA:496641
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Myoclonus, Tongue fasciculations, Neonatal death, Hearing impairment OMIM:614922
Congenital Sialidosis Type 2
Ataxia, Optic atrophy, Dysmetria, Myoclonus, Low-set ears, Spasticity, Hearing impairment ORPHA:93400
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Short stature, Posteriorly rotated ears, Growth delay, Low-set ears, Attention def... OMIM:614294
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Cryptorchidism, Abnormal autonomic nervous system physiology, Myoclonus ORPHA:168593
Multifocal Motor Neuropathy
Motor conduction block, Fasciculations ORPHA:641
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Fasciculations ORPHA:206546
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Abnormal vestibular function, Ataxia, Impaired distal proprioception, Hypoesthesia, Sensorineural... OMIM:607459
Caribbean Parkinsonism
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... ORPHA:97355
Van Esch-O'Driscoll Syndrome
Short stature, Impulsivity, Protruding ear, Growth delay, Microtia, Attention deficit hyperactivi... OMIM:301030
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Hypertonia, Myoclonus, Spastic tetraparesis ORPHA:284417
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Clumsiness, Facial diplegia, Fasciculations, Fre... ORPHA:521411
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Protruding ear, Bruxism, Macrotia, Abnormal repetitive man... OMIM:606232
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Short stature, Myoclonus ORPHA:289266
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Cupped ear, Microtia, Myoclonus, Intrauterine growth retardation ORPHA:1352
Posttransplant Acute Limbic Encephalitis
Ataxia, Abnormal autonomic nervous system physiology, Myoclonus ORPHA:163921
Mepan Syndrome
Ataxia, Chorea, Optic atrophy, Myoclonus, Spasticity ORPHA:508093
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Houge-Janssens Syndrome 3
Umbilical hernia, Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hype... OMIM:618354
Kleefstra Syndrome
Short stature, Aggressive behavior, Self-mutilation, Self-injurious behavior, Thickened helices, ... ORPHA:261494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Short stature, Ataxia, Tremor, Chorea, Athetosis, Hyperkinetic movements, Truncal... OMIM:615356
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ... OMIM:617281
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Optic atrophy, Myoclonus, Hearing impairment OMIM:617669
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Postnatal growth retardation, Sensorineural hearing impairment, Growth ... OMIM:301040
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Low-set ears ORPHA:2165
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Sensorineural hearing impairment, Bilateral sensorineural hearing i... ORPHA:300570
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Growth delay, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressiv... OMIM:619121
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Hypertonia, Myoclonus OMIM:618240
Microcephaly, Amish Type
Optic atrophy, Myoclonus, Limb hypertonia OMIM:607196
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Fasciculations OMIM:619733
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Abnormal repetitive mannerisms, Low-set ears, Aggressive behavior ORPHA:457279
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity OMIM:614299
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Ataxia, Supernumerary nipple, Oculomotor apraxia, Cupped ear, Growth delay... ORPHA:247262
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Apr... OMIM:607822
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia, Dysphagia OMIM:609454
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Severe short stature, Optic nerve hypoplasi... ORPHA:468631
Pseudohypoparathyroidism Type 1B
Short stature, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, E... ORPHA:94089
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... OMIM:615273
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Short stature, Aggressive behavi... ORPHA:96121
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria OMIM:619780
Pitt-Hopkins Syndrome
Cryptorchidism, Cupped ear, Self-injurious behavior, Thickened helices, Abnormal repetitive manne... OMIM:610954
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory sensation, Somatic ... ORPHA:466768
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Paresthesia, Pseudohypoparathyroidism, Myoclonic ... ORPHA:94090
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Growth delay, Self-injurious behavior, Low-set ears, Intrauterine growt... OMIM:615485
Pseudohypoparathyroidism Type 1A
Short stature, Decreased response to growth hormone stimulation test, Reduced circulating prolact... ORPHA:79443
Den Hoed-De Boer-Voisin Syndrome
Posteriorly rotated ears, Agitation, Dysphagia, Intrauterine growth retardation, Abnormal repetit... OMIM:619229
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short stature, Myoclonus OMIM:619060
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Neon... OMIM:605711
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Growth delay, Abnormal repetitive mannerisms OMIM:619428
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Hearing impairment ORPHA:90024
Juvenile Absence Epilepsy
Myoclonus ORPHA:1941
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin... ORPHA:86309
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Norrie Disease
Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Self-injurious beh... ORPHA:649
Ataxia-Telangiectasia
Diabetes mellitus, Short stature, Female hypogonadism, Ataxia, Tremor, Slurred speech, Choreoathe... OMIM:208900
Dilated Cardiomyopathy With Ataxia
Growth delay, Intrauterine growth retardation, Repetitive compulsive behavior, Bilateral sensorin... ORPHA:66634
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, H... OMIM:181450
Benign Samaritan Congenital Myopathy
Fasciculations ORPHA:324581
Myopathy, Myofibrillar, 2
Fasciculations OMIM:608810
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:168491
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Short stature, Delayed puberty ORPHA:213
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Fasciculations, Frequ... ORPHA:329478
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms ORPHA:927
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Anterior pituitary hypoplasia, Protruding ear, Bile duct proliferation, Low-set ea... OMIM:619534
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Diarrhea, Weight loss, Agitation ORPHA:424
Neurogenic Arthrogryposis Multiplex Congenita
Fasciculations ORPHA:1143
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Self-i... OMIM:619512
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:457351
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, Myoclonus, Conductive hear... OMIM:615816
Dystonia 34, Myoclonic
Torticollis, Myoclonus, Hand tremor, Head tremor OMIM:619724
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Bilateral sensorineural hearing impa... OMIM:618321
Oromandibular Dystonia
Blepharospasm, Torticollis, Hyperkinetic movements ORPHA:93958
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Spasticity, Myoclonus OMIM:618201
Melas
Hypoparathyroidism, Diabetes mellitus, Short stature, Hypogonadotropic hypogonadism, Abnormal cen... ORPHA:550
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia, Dysphagia OMIM:601104
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hyperkinetic movements, Paresth... ORPHA:2912
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis... OMIM:608643
Orofaciodigital Syndrome Iii
Myoclonus, Low-set ears OMIM:258850
Orofaciodigital Syndrome Type 3
Oculomotor apraxia, Spasticity, Myoclonus, Low-set ears ORPHA:2752
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Abnormal... ORPHA:171695
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Failure to thrive, Vomiting, Increased circulating free fatty acid level OMIM:610768
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Paresthesia, Fasciculations ORPHA:682
Galloway-Mowat Syndrome 10
Myoclonus, Congenital hypothyroidism OMIM:619609
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, Fa... OMIM:268800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Sensorineural hearing impairment, Growth delay, Choreoathetosis, Hypertonia, Hyperkinetic movemen... ORPHA:17
African Trypanosomiasis
Akinesia, Aggressive behavior, Diarrhea, Weight loss, Choreoathetosis, Vomiting, Gait disturbance... ORPHA:3385
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Short stature, Ataxia, Postural tremor, Babinski sign, Lower limb hypertonia, Myoclonus, Truncal ... OMIM:301072
Mucopolysaccharidosis Type 2
Otosclerosis, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Sensorineural heari... ORPHA:580
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Tremor, Fasciculations ORPHA:209335
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia ORPHA:1020
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus OMIM:616398
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Myoclonus, Hearing impairment OMIM:614946
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Short stature, Ataxia, Vocal cord paralysis, Growth delay, Hyperkinetic mo... OMIM:617799
Fabry Disease
Paresthesia, Abnormal autonomic nervous system physiology, Fasciculations, Delayed puberty OMIM:301500
Neutral Lipid Storage Myopathy
Diabetes mellitus, Short stature, Sensorineural hearing impairment, Pineal cyst, Fasciculations ORPHA:98908
Duane Retraction Syndrome
External ear malformation, Sensorineural hearing impairment, Stenosis of the external auditory ca... ORPHA:233
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Optic disc pallor, Ataxia, Myoclonus OMIM:619167
Peho Syndrome
Optic atrophy, Myoclonus OMIM:260565
Familial Gestational Hyperthyroidism
Hyperactivity, Diarrhea, Agitation, Weight loss ORPHA:99819
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, Myoclonus ORPHA:79096
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Myoclonus, Low-set ears ORPHA:314655
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Ataxia, Rigidity, Vertigo, Myoclonus, Limb myoclonus ORPHA:1183
Floating-Harbor Syndrome
Restlessness, Short stature, Impulsivity, Aggressive behavior, Cochlear malformation, Growth dela... ORPHA:2044
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Short stature, Myoclonus, Delayed puberty ORPHA:251004
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity OMIM:616640
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears OMIM:618653
Hypotonia, Ataxia, And Delayed Development Syndrome
Short stature, Posteriorly rotated ears, Overfolded helix, Low-set ears, Dysphagia, Small earlobe... OMIM:617330
Kinsship Syndrome
Abnormal repetitive mannerisms, Short stature, Low-set ears, Bruxism OMIM:619297
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... ORPHA:476126
Pgm3-Cdg
Mild neurosensory hearing impairment, Short stature, Ataxia, Sensorineural hearing impairment, My... ORPHA:443811
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Myoclonus OMIM:300673
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Birth length less than 3rd percentile, Attention deficit hyperactivity disorder, ... ORPHA:464311
Developmental And Epileptic Encephalopathy 101
Myoclonus, Opisthotonus OMIM:619814
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy ORPHA:522077
Angelman Syndrome
Optic disc pallor, Precocious puberty in females, Ataxia, Tremor, Optic atrophy, Myoclonus, Delay... ORPHA:72
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Posteriorly rotated ears, Abnormal repetitive mannerisms, Cupped ea... OMIM:615873
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Fatal Familial Insomnia
Ataxia, Abnormal autonomic nervous system physiology, Myoclonus OMIM:600072
Schinzel-Giedion Syndrome
Abnormality of the stapes, Dysphagia, Abnormal cochlea morphology, Large earlobe, Abnormal helix ... ORPHA:798
Amyotrophy, Monomelic
Fasciculations OMIM:602440
X-Linked Intellectual Disability, Snyder Type
Short stature, Involuntary movements, Asymmetry of the ears, Cryptorchidism, Cupped ear, Abnormal... ORPHA:3063
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Short stature, Posteriorly rotated ears, Aggressive behavior, Protrudin... OMIM:614756
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Violent behavior, Impulsivity, Aggressive behavior, Repetiti... OMIM:619475
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Short stature, Cupped ear, Protruding ear, Low-set ears,... OMIM:309590
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Spasticity ORPHA:500144
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Posteriorly rotated ears, Aggressive behavior, Recurrent otitis media, Umbilical hernia, Abnormal... OMIM:301066
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Myoclonus OMIM:616158
Hyperglycinemia, Lactic Acidosis, And Seizures
Growth delay, Myoclonus, Spastic tetraplegia OMIM:614462
Rheumatic Fever
Hemiballismus, Chorea, Fasciculations ORPHA:3099
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Chorea, Optic atrophy, Athetosis, Hyperkinetic movements, Myoclonus, Oculomoto... ORPHA:404454
Cog8-Cdg
Ataxia, Myoclonus ORPHA:95428
Rett Syndrome
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:778
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614618
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Intellectual Developmental Disorder, Autosomal Dominant 42
Cerebral palsy, Posteriorly rotated ears, Sensorineural hearing impairment, Congenital hypothyroi... OMIM:616973
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Serotonin Syndrome
Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Abnormality of the autonomic nervous system ORPHA:43116
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Limb tremor, Head tremor, Myoclonus ORPHA:420492
Whipple Disease
Hypothyroidism, Abnormal pyramidal sign, Ataxia, Myoclonus ORPHA:3452
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:353281
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Stereotypical body rocking, ... ORPHA:513456
Treacher-Collins Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Narrow internal auditory ... ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Posteriorly rotated ears, Aggressive behavior, Hair-pulling, Polyphagia, Protruding ... OMIM:620330
Arboleda-Tham Syndrome
Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Prominent antihelix, G... OMIM:616268
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Spastic tetraplegia, Myoclonus, Neonatal death, Intrauterine growth retardation OMIM:619055
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Choreoacanthocytosis
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... ORPHA:2388
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Intrauterine growth retardation, Abnormal repetitive mannerisms, Self-mutilation, Attention defic... OMIM:619005
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus OMIM:246450
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Abnormal pyramidal sign, Cataplexy... ORPHA:646
Postpoliomyelitis Syndrome
Fasciculations ORPHA:2942
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Cryptorchidism, Optic atrophy, Hypertonia, Myoclonus, Fasciculations, Spas... ORPHA:284339
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Involuntary movements, Orthostatic tachycardia, Neopla... ORPHA:217253
Joubert Syndrome 6
Abnormal repetitive mannerisms OMIM:610688
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus OMIM:168601
Early-Onset Lafora Body Disease
Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus, Horner syndrome OMIM:256700
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Myoclonic spasms, Hyperkinetic movements ORPHA:73224
Lathosterolosis
Intrauterine growth retardation, Myoclonus, Hearing impairment ORPHA:46059
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Cryptorchidism, Protruding ear, Azoospermia, Self-injurious be... ORPHA:534
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Gait ataxia, Myoclonus, Intention tremor OMIM:254900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Growth delay, Intrauterine growth retardation, Overfolded helix, Abnorm... OMIM:301044
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Short stature, Sensorineural heari... OMIM:619325
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353277
Ogden Syndrome
Short stature, Postnatal growth retardation, Protruding ear, Growth delay, Low-set ears, Dysphagi... OMIM:300855
Scorpion Envenomation
Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus ORPHA:466677
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short stature, Posteriorly rotated ears, Growth delay, Microtia, Low-set ears, Dysphagia, Attenti... OMIM:619522
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Polyphagia, ... ORPHA:1606
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Short stature, Sensorineural hearing impairment, Growth delay, Severe ... OMIM:194190
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms, Short stature, Hearing impairment ORPHA:508498
Farber Disease
Paraparesis, Spasticity, Short stature, Myoclonus ORPHA:333
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Hypergonadotropic hypogonadism, Aggressiv... OMIM:259050
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms OMIM:300672
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Disproportionate short stature, Abnormal repetitive mannerisms ORPHA:508533
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Listeriosis
Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Myoclonus, Hearing impairment ORPHA:533
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Ataxia, Myoclonus, Spastic hemiparesis ORPHA:20
Early Infantile Epileptic Encephalopathy
Precocious puberty, Tremor, Choreoathetosis, Myoclonus, Episodic ataxia, Spasticity ORPHA:1934
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Short stature, Involuntary movements, Abnormalit... ORPHA:438213
Ethylene Glycol Poisoning
Slurred speech, Ataxia, Facial palsy, Myoclonus ORPHA:31826
Developmental And Epileptic Encephalopathy 100
Choreoathetosis, Chorea, Myoclonus, Gait ataxia OMIM:619777
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, Abnormal... OMIM:612474
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypertonia, Bile duct proliferation, Myoclonus, Tetraparesis OMIM:203700
Dystonia-Aphonia Syndrome
Myoclonus ORPHA:412217
Williams Syndrome
Low-set, posteriorly rotated ears, Short stature, Hypogonadotropic hypogonadism, Involuntary move... ORPHA:904
Lafora Disease
Ataxia, Myoclonus, Erratic myoclonus, Spasticity, Giant somatosensory evoked potentials ORPHA:501
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Hypertonia, Ataxia, Myoclonus OMIM:618426
Doors Syndrome
Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism, Atresia of the external auditory c... ORPHA:79500
Crimean-Congo Hemorrhagic Fever
Orchitis, Vertigo, Adrenal insufficiency, Fasciculations, Inappropriate antidiuretic hormone secr... ORPHA:99827
Lowe Oculocerebrorenal Syndrome
Postnatal growth retardation, Abnormal repetitive mannerisms, Short stature, Aggressive behavior OMIM:309000
Proteus Syndrome
Macrotia, Low-set ears, Narrow internal auditory canal ORPHA:744
Mowat-Wilson Syndrome
Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Sensorineural hearing impairment, Dys... ORPHA:2152
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Abnormal repetitive mannerisms OMIM:616682
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Sensorineural hearing impairment, Dys... ORPHA:261537
Myoclonic Epilepsy Of Lafora
Myoclonus, Apraxia OMIM:254780
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Myoclonus, Tetraplegia OMIM:618278
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Sensorineural hearing impairment, Dys... ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Spasticity, Optic atrophy, Myoclonus OMIM:253280

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 Hmx3

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 Hmx3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Hmx3hx PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Hmx3hx PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hmx3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hmx3tm97282(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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