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Gene: Kcne1 MGI:96673

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Gene Summary

Name:
potassium voltage-gated channel, Isk-related subfamily, member 1
Synonyms:
nmf190,  MinK,  Isk

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased monocyte cell number Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 1.84×10-09
increased circulating alanine transaminase level Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 8.65×10-09
decreased vertical activity Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 7.55×10-09
increased blood urea nitrogen level Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 2.63×10-05
decreased bone mineral content Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 8.21×10-12
increased neutrophil cell number Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 9.04×10-12
decreased bone mineral density Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 1.07×10-10
abnormal gait Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 2.90×10-07
increased mean corpuscular volume Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 2.23×10-11
abnormal behavior Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 1.24×10-21
head bobbing Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 1.24×10-21
hyperactivity Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal cued conditioning behavior Kcne1tm1b(EUCOMM)Hmgu HOM   Early adult 1.80×10-07
tremors Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 3.55×10-06
abnormal auditory brainstem response Kcne1tm1b(EUCOMM)Hmgu HOM   Early adult 1.09×10-21
decreased locomotor activity Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 9.51×10-05
decreased total body fat amount Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 4.23×10-09
decreased anxiety-related response Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 1.65×10-14
impaired righting response Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 2.96×10-11
decreased lymphocyte cell number Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 1.84×10-05
increased lean body mass Kcne1tm1b(EUCOMM)Hmgu HOM   Early adult 1.11×10-05
decreased thigmotaxis Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 5.35×10-14
abnormal startle reflex Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 1.24×10-21
decreased prepulse inhibition Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased startle reflex Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 6.33×10-15
trunk curl Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 1.77×10-10
abnormal locomotor behavior Kcne1tm1b(EUCOMM)Hmgu HOM   Early adult 1.04×10-05
increased circulating alkaline phosphatase level Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 2.84×10-06
abnormal motor capabilities/coordination/movement Kcne1tm1b(EUCOMM)Hmgu HOM Early adult 4.67×10-26

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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.

X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Kcne1 mutations

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

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

The table below shows human diseases predicted to be associated to Kcne1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300425
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Friedreich Ataxia
Optic atrophy, Decreased motor nerve conduction velocity, Hearing impairment, Falls, Cardiomyopat... ORPHA:95
Mohr-Tranebjaerg Syndrome
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal pyramidal... ORPHA:52368
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Dysesthesia, Positive Romberg sign, Gait ataxia... OMIM:608984
East Syndrome
Polydipsia, Cerebellar atrophy, Hypomagnesemia, Hyperaldosteronism, Difficulty walking, Inability... ORPHA:199343
Spinocerebellar Ataxia 6
Cerebral cortical atrophy, Cerebellar atrophy, Vertigo, Dysmetria, Loss of ambulation, Ataxia, Tr... OMIM:183086
Autism
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:607373
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia, Optic atrophy, Sensorineural hearing impairment OMIM:136600
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Polydipsia, Second degree atrioventricular block, Hyperaldosteronism, Adrenal hyperpla... ORPHA:369929
Dystonia 31
Arm dystonia, Depression, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dysto... OMIM:619565
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Distal se... OMIM:300614
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creat... ORPHA:309169
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vomiting, Diarrhea, Increased circulating ferritin concentration, Diffuse cerebral atrophy, Absen... ORPHA:3240
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Cognitive i... ORPHA:216873
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple... ORPHA:139431
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Arrhythmia, Tachycardia, Hyperkalemia, Dysphagia, Chorea, Hypocalcemia, Abnorm... ORPHA:94093
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Abnormal cranial nerve m... ORPHA:247234
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... OMIM:614575
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Gait ataxia, Intention tremor, Dysmetria, Sensorineural hearing impairment, Vestib... ORPHA:504476
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Opticocochleodentate Degeneration
Optic atrophy, Spastic tetraplegia, Hearing impairment, Cochlear degeneration OMIM:258700
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Ataxia, Sensorineural hearing impairment ORPHA:231183
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Huntington Disease-Like 1
Incoordination, Weight loss, Cognitive impairment, Jerky head movements, Bradykinesia, Restlessne... ORPHA:157941
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Vomiting, Ileus, Aggressive behavior, Attention deficit hyperactivity disorder,... OMIM:300352
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Hypertrophic cardiomyopathy, Limb dystonia, Tremor, Aggressive behavior, Hype... OMIM:620270
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Increased intramuscular fat, Abnormal s... ORPHA:276435
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Cerebellar atrophy, Hypomagnesemia, Hyperaldosteronism, Intention tremor, Sensorineur... OMIM:612780
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Normochr... ORPHA:66634
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Difficulty walking, Impaired vibration sensation in the lo... ORPHA:251282
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Gastroesophageal reflux, Childhood onset sensorineural he... ORPHA:251061
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Ankle flexion contracture, Spasticity, Inability to walk, Ankle clonus, Irritability, Babinski si... OMIM:616657
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Clumsiness, ... ORPHA:100973
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parki... ORPHA:401901
Usher Syndrome Type 1
Ataxia, Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Familial Hyperaldosteronism Type I
Epistaxis, Polydipsia, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppr... ORPHA:403
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements ORPHA:71518
Ravine Syndrome
Anorexia, Spasticity, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia, Flexion contracture OMIM:611105
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Emotional lability, Impaired tacti... ORPHA:206443
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Ataxia, Anorexia, Tip-toe gait, Dystonia, Elevated plasma citrulline... ORPHA:3008
Pendred Syndrome
Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg... ORPHA:705
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... OMIM:601382
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia, Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Hypokalemia, Pr... ORPHA:251274
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... OMIM:609425
Hypokalemic Tubulopathy And Deafness
Sensorineural hearing impairment, Increased circulating renin level, Hyperaldosteronism, Ataxia OMIM:619406
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal... OMIM:618718
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Chorea, Inappropriate laughter, Dystonia, Motor stereotypy, Aggressive behavior, ... OMIM:619150
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Elevated circulating alpha-fetoprotein concentration, Optic atrophy, Hearing impairment, Cochlear... ORPHA:95433
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Oral-pharyngeal dysphagia, Neurodegeneration, Torsade de pointes, Sensorineural hearing impairmen... OMIM:616878
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Optic atrophy, Global brain atrophy, Abnormal E... ORPHA:480864
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Recurrent hand flap... OMIM:617862
Phenylketonuria
Osteopenia, Depression, Short attention span, Tremor, Lower limb spasticity, Hyperphenylalaninemi... ORPHA:716
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Paresthesia, Palpitations, Decr... ORPHA:231625
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Cerebral cortical atrophy, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abn... OMIM:300983
Migraine, Familial Hemiplegic, 1
Hemiplegia, Confusion, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Elevated circulating creatine kina... OMIM:615048
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, EEG abnormality, Truncal ataxia, Unsteady... OMIM:608636
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Hearing impairment, Ataxia OMIM:159800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal... OMIM:615924
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, Hypsarrhythmia, Hype... ORPHA:599373
Developmental And Epileptic Encephalopathy 97
Inability to walk, Hypsarrhythmia, Tremor, Stereotypical hand wringing OMIM:619561
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Mildly elevated creatine kinase, Tremor, Hearing impairment OMIM:614369
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk, Hypsarrhythmia, Motor stereotypy, Spastic diplegia OMIM:617830
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Abnormal fear-induced behavior, Hearing impairment, Difficulty walking, Abnormal circul... ORPHA:100924
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Hearing impairment, Failure to thrive, Pancytopenia, Hypomethi... ORPHA:2169
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Hyperammonemia, Splenomegaly, Pancreatitis, Neutropenia, Anorexia,... ORPHA:79312
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Congenital sensorineural hearing impairment, Syncope, Prolonged QT interval, ... OMIM:220400
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Frequent falls, Inability to walk, Abnormal postu... ORPHA:216866
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Abnormal amplitude of pattern rev... OMIM:125250
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Polydipsia, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Tinn... ORPHA:231580
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Gitelman Syndrome
Diarrhea, Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR ... ORPHA:358
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Distal sensory impairment, Ataxia OMIM:617018
Combined Oxidative Phosphorylation Deficiency 47
Low-set ears, Sensorineural hearing impairment, Dysphagia, Posteriorly rotated ears, Dehydration OMIM:618958
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Gitelman Syndrome
Hypotension, Vomiting, Polydipsia, Hypomagnesemia, Vertigo, Paresthesia, Palpitations, Hypokalemi... OMIM:263800
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Glut1 Deficiency Syndrome 2
Reticulocytosis, Reduced haptoglobin level, Tremor, Splenomegaly, Irritability, EEG abnormality, ... OMIM:612126
Episodic Ataxia Type 4
Vertigo, Abnormal head movements ORPHA:79136
Christianson Syndrome
Cerebral cortical atrophy, Gastroesophageal reflux, Cerebellar atrophy, Inappropriate laughter, G... ORPHA:85278
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Mohr-Tranebjaerg Syndrome
Progressive sensorineural hearing impairment, Abnormal posturing, Tremor, Postlingual sensorineur... OMIM:304700
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Elbow flexion contracture, Tremor, Aggressive behavior, Hyperact... OMIM:619470
Cystinosis
Type I diabetes mellitus, Vomiting, Polydipsia, Portal hypertension, Hypokalemia, Hypothyroidism,... ORPHA:213
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300495
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Emotional lability, Self-mutilation, Tremor, Aggressiv... OMIM:616269
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... OMIM:601455
Reticular Dysgenesis
Diarrhea, Hearing impairment, Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality o... ORPHA:33355
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hyperphenylalaninemia, Hypertonia, Progressive neurologic deteri... OMIM:261630
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment OMIM:616042
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Memory impairment, Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Usher Syndrome
Abnormal vestibular function, Cerebral cortical atrophy, Hypertrophic cardiomyopathy, Abnormal ca... ORPHA:886
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal peripheral action p... ORPHA:90117
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Tinnitus, Abnormal circulating ... ORPHA:404
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Focal EEG disch... ORPHA:3077
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Polydipsia, Sensorineural hearing impairment, Hypokalemia, Enlarged vestibula... ORPHA:18
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Large fleshy ears, Gait ataxia, Tremor, Impaired tactile sensation, Ataxia, Overfol... OMIM:619092
Familial Cold Urticaria
Polydipsia, Sensorineural hearing impairment, Hyperhidrosis, Dysesthesia, Dehydration ORPHA:47045
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Alg8-Cdg
Low-set ears, Optic atrophy, Cerebral cortical atrophy, Vomiting, Diarrhea, Ascites, Oligohydramn... ORPHA:79325
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, EEG abnormality, Agitation OMIM:617171
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Lethargy, Spastic ataxia, Megaloblastic ane... OMIM:277410
Smith-Magenis Syndrome
Pain insensitivity, Abnormality of the outer ear, Abnormal nerve conduction velocity, Head-bangin... OMIM:182290
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct ORPHA:79414
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Gastroesophageal reflux, Conductive hearing impairment, Cerebral atrophy, Inability to walk, Brux... OMIM:618497
Bartter Syndrome, Type 2, Antenatal
Diarrhea, Vomiting, Polydipsia, Dehydration, Hyperchloriduria, Hyperaldosteronism, Hypomagnesemia... OMIM:241200
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Involuntary movements, Spasticity, Inability to walk, EEG abnormality, D... OMIM:617820
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... ORPHA:382
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Self-injurious behavior, Profound sensorineural hearing impairmen... OMIM:620469
Andersen-Tawil Syndrome
Low-set ears, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular ext... ORPHA:37553
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality of extra... OMIM:615362
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity ORPHA:436151
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Bilateral sensorineural hearing impairment, Vomiting, Dehydration, Hypokalemia OMIM:602722
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears, Impulsivity OMIM:619717
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Abnormal posturing, Generalized dystonia, Inability to walk, Multiple ... OMIM:128100
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
N-Acetylaspartate Deficiency
Broad-based gait, Short attention span, Inguinal hernia, Self-mutilation, Decreased body weight, ... OMIM:614063
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... ORPHA:240103
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Restless legs, Rigidity, Gait disturbance, Parkinsonism with favorabl... OMIM:616710
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia, Ataxia... ORPHA:1368
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Agitation, Hyperactivity, Thrombocytopenia, Exaggerated startle r... OMIM:620423
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Vestibular areflexia, Progressive hearing impairment OMIM:193005
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia OMIM:300624
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Difficulty walking, EEG with spike-wave complexes, Myoclonus, Tremor, Elevated... OMIM:614018
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Diarrhea, Vomiting, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyper... OMIM:177735
Dystonia 12
Depression, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait, Brady... OMIM:128235
Juvenile Huntington Disease
Broad-based gait, Depression, Chorea, Gait ataxia, Myoclonus, Rigidity, Dystonia, Irritability, W... ORPHA:248111
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Diarrhea, Vomiting, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyper... OMIM:264350
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Polydipsia, Hypernatremia, Constipation, Nephrogenic diabetes insipidus, Hypertonic deh... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Polydipsia, Hypernatremia, Constipation, Diabetes insipidus, Hypertonic dehydration OMIM:304800
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Memory impairment, EEG with generalized epileptiform discharges, C... ORPHA:98818
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... OMIM:617695
Transient Neonatal Diabetes Mellitus
Hearing impairment, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, H... ORPHA:99886
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Hearing impairment, Gait ataxia, Tremor ORPHA:217012
Erythrocytosis, Familial, 1
Vertigo, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating... OMIM:133100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Spasticity, Optic atrophy, Decreased motor nerve conduction velocity, Heari... OMIM:609260
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Difficulty walking, Limited hip movement, Positive Romberg sign, Distal se... ORPHA:206594
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Mental deterioration, Impaired vibratory sensation, Falls, Resting tremor, Ga... OMIM:617225
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremic dehydration, Constipation, Nephrogenic diabetes insipidus, Anorexia, Po... ORPHA:223
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Action tremor, Obsessive-compulsive trait, EEG with polyspike wave complexes, J... OMIM:617665
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia, ... OMIM:613839
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Subcortical dementia, Tremor, Disinhibitio... OMIM:606159
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Neuromuscular dysphagia, Falls, Memory impairment, Depression, Tremor, Rigi... ORPHA:240085
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Posteriorly rotated ears, Recurrent hand flapping OMIM:618147
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Hepatosplenomegaly, Il... OMIM:609136
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, EEG abnormality, Ataxia, Motor stereotypy OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di... OMIM:617270
Rett Syndrome
Cerebral cortical atrophy, Gastroesophageal reflux, Abnormal T-wave, Bruxism, Gait ataxia, Stereo... OMIM:312750
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturban... ORPHA:314632
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, EEG with continuous slow activity, Memory impairment,... ORPHA:275864
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Intractable diarrhea, Vomiting, Diarrhea, Reduced natural killer cell count, Rec... OMIM:619381
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Spasticity, Cerebral palsy, Dystonia, Aggressive behavior, Hyperactivity, Compulsive... OMIM:301107
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski ... OMIM:618093
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Pearson Syndrome
Hearing impairment, Pancytopenia, Hypophosphatemia, Neutropenia, Ataxia, Hypoparathyroidism, Dysp... ORPHA:699
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Laryngeal dystonia, Hypocalcem... ORPHA:94090
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Bruxism, Self-mutilation, Tremor, Ataxia, Bilateral sensorineura... OMIM:619422
Intellectual Developmental Disorder, Autosomal Dominant 7
Cerebral cortical atrophy, Inappropriate laughter, Stereotypical hand wringing, Gait disturbance,... OMIM:614104
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... OMIM:620085
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Loss of ambulation, Babinski sign,... ORPHA:521406
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Sensorineural hearing impairment, Hypokalemia, Hyponatremia... OMIM:613090
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system, Hearing impairment, Ataxia ORPHA:1186
Optic Atrophy 11
Optic atrophy, Hearing impairment, Stereotypical body rocking, Brain atrophy, Facial diplegia, Sp... OMIM:617302
Atypical Rett Syndrome
Spasticity, Loss of ambulation, Involuntary movements, Limb myoclonus, Inability to walk, Stereot... ORPHA:3095
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... OMIM:159900
Xq28 (MECP2) duplication
Gastroesophageal reflux, Inability to walk, Gait ataxia, Constipation, Dysphagia, Motor stereotyp... DECIPHER:45
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Frequent falls, Difficulty walking, Myoclonus, Tremor, Elevated circulatin... OMIM:159950
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Spinocerebellar Ataxia 44
Spasticity, Gait ataxia, Dysmetria, Tinnitus, Dysphagia, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Coenzyme Q10 Deficiency, Primary, 9
Oppositional defiant disorder, Myoclonus, Dysmetria, Tremor, Short attention span, Impaired tande... OMIM:619028
Infant Botulism
Hypotension, Xerostomia, Hyponatremia, Hypertension, Constipation, Anorexia, Cardiac arrest, Chro... ORPHA:178478
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Hearing impairment, Persistence of hemoglobin... OMIM:617052
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, High-frequency sensorineural hearing impairment, Frequent f... ORPHA:2590
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Diarrhea, Vomiting, Xerostomia, Hypomagnesemia, Paresthesia, Hypocalcemia, Hypokale... OMIM:175500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Pancreatitis, Throm... ORPHA:27
Ectopic Aldosterone-Producing Tumor
Epistaxis, Decreased circulating renin level, Tinnitus, Hypokalemia, Nausea, Hypertension, Glucoc... ORPHA:231632
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w... OMIM:617013
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Motor ... OMIM:618218
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Tremor, Sensorineural hearing impairment, Protruding ear, Aggressive behav... OMIM:618342
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Dementia, Interictal EEG abnormality, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia,... ORPHA:79263
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Lethargy, Anorexia,... OMIM:611590
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hyperaldosteronism, Sensorineural hearing impairment, Hypokalemia, ... OMIM:602522
Dpagt1-Cdg
Optic atrophy, Cerebral cortical atrophy, Global brain atrophy, Head-banging, Hearing impairment,... ORPHA:86309
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Rigidity, Dystonia, Irritability, Parkinsonism, Limb hypertoni... OMIM:261640
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Somatic sensory dysfunction, Hand tremor, I... ORPHA:101085
Bartter Syndrome Type 4
Vomiting, Hypomagnesemia, Hyperaldosteronism, Polyhydramnios, Protruding ear, Hypokalemia, Hypona... ORPHA:89938
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Hearing impairment, T... ORPHA:99014
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Failure to... OMIM:616881
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr... ORPHA:486
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho... ORPHA:225147
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... OMIM:612347
Epilepsy, Progressive Myoclonic 7
Mental deterioration, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Ataxia OMIM:616187
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Euthyroid goiter, I... OMIM:113650
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Low-set ears, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Constipation, Pu... OMIM:620029
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating reni... OMIM:620126
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia, Dystonia, ... OMIM:617807
Scorpion Envenomation
Diarrhea, Pulmonary edema, Premature ventricular contraction, Arrhythmia, Ataxia, Tachycardia, Re... ORPHA:466677
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Sensor... ORPHA:95513
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Motor stereotypy, Chronic otitis media, Self-injurious behavior, Gastroesophage... ORPHA:534
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Inappropriate behavior, Myoclonus, Disinhibition, Rigidity, Aggressive behavio... OMIM:600795
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Impaired distal vibration sensation, Incoordination, Postural tremor,... OMIM:128230
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Gait distu... ORPHA:544254
Mercury Poisoning
Hypotension, Tremor, Hypokalemia, Tachycardia, Episodic vomiting, Anorexia, Nausea, Dystonia, Hyp... ORPHA:330021
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Tremor, Self-mutilation, Gait disturbance,... ORPHA:457240
Long Qt Syndrome 1
Torsade de pointes, Hearing abnormality, Syncope, Prolonged QT interval, Ventricular fibrillation... OMIM:192500
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Hearing impairment, Failure to thrive, Difficulty walking,... ORPHA:90321
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Inability to walk, Hypsarrhythmia, Hypertonia, Motor stereotypy, Macrotia OMIM:619877
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Profound sensorineural hearing impairment, Arrhythmia, Iron deficiency anemia... ORPHA:90647
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating r... OMIM:620125
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... ORPHA:79443
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Acute Adrenal Insufficiency
Diarrhea, Anorexia, Hyperkalemia, Androgen insufficiency, Primary adrenal insufficiency, Salt cra... ORPHA:95409
Saccharopinuria
Mental deterioration, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Distal sensory impair... ORPHA:3124
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Vomiting, Abnormal circulating aldosterone, Glucocortocoid-insensitive primary... ORPHA:171876
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Ascites,... ORPHA:57777
Myopathy With Extrapyramidal Signs
Optic atrophy, Extremely elevated creatine kinase, Difficulty walking, Chorea, Leukocytosis, Sple... OMIM:615673
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circulating very ... OMIM:617916
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Gait ataxia, Limb dystonia, Emotional lability, Parkinsonism, Craniof... ORPHA:71517
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor deterioration, General... ORPHA:363400
Hyperkalemic Periodic Paralysis
Congestive heart failure, Paresthesia, Elevated circulating creatine kinase concentration, Hypoka... ORPHA:682
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Cerebral cortical atrophy, Inability to walk, Bruxism, Chorea, Paroxysma... OMIM:618004
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocyto... OMIM:619644
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating creatinine concentration, Pancytopenia, Congenital sensor... OMIM:617872
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Emotional lability, Parkinsonism, EEG with generalized slow activity, Ataxia, Bra... OMIM:300055
Distal Deletion 3P
Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Hearing impairment ORPHA:1620
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:1215
Late-Onset Isolated Acth Deficiency
Diarrhea, Anorexia, Hypoparathyroidism, Pituitary adenoma, Graves disease, Decreased circulating ... ORPHA:199299
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal semicirc... ORPHA:87
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Progressive psychomotor deterioration, Abnormal dental enamel morphology, Obe... ORPHA:251004
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Dilated cardiomyopathy, Congestive heart failure, Normochromic microcytic anemia, ... OMIM:610198
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Depression, Hearing impairment, Paresthesia, Cogwheel rigidity, Ac... ORPHA:254886
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto... OMIM:601596
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Parest... ORPHA:36913
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Monocytosis OMIM:615592
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Sensori... ORPHA:363710
Hereditary Coproporphyria
Long hairs growing from helix of pinna, Abnormal circulating porphyrin concentration, Hyponatremi... ORPHA:79273
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Abnormality of extra... ORPHA:500180
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Hyperaldosteronism, Hypokalemia, Hyponatremia, Polyhydramnios, Hyperactive re... OMIM:214700
Snakebite Envenomation
Epistaxis, Hypotension, Neuromuscular dysphagia, Vomiting, Diarrhea, Angioedema, Pseudobulbar par... ORPHA:449285
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Myoclonus, Irritability, Aggressive behavior, Hyperactivity, EEG abn... ORPHA:2382
Central Diabetes Insipidus
Diarrhea, Polydipsia, Hyponatremia, Anorexia, Diabetes insipidus, Dehydration ORPHA:178029
Spinocerebellar Ataxia Type 27
Memory impairment, Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... ORPHA:98764
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Increased mean corpuscular volume, Atresia of the external auditor... OMIM:300946
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r... OMIM:620482
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... OMIM:604326
Huntington Disease-Like 3
Broad-based gait, Spasticity, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, ... ORPHA:157946
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Vomiting, Diarrhea, Hearing impairment, Ataxia, Dehydration OMIM:560000
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spasticity, Broad-based gait, Acropar... ORPHA:206448
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Paraparesis, Cognitive i... OMIM:615157
Spinocerebellar Ataxia 7
Mental deterioration, Spasticity, Optic atrophy, Chorea, Dysmetria, Tremor, Abnormality of extrap... OMIM:164500
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Hearing impairment, Limb myoclonus, Hand tremor, Vertigo, Difficulty walki... ORPHA:276198
Glycine Encephalopathy 1
Myoclonus, Hyperglycinemia, Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessn... OMIM:605899
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Dysphagia, Hyperton... OMIM:617435
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Combined Malonic And Methylmalonic Acidemia
Vomiting, Dicarboxylic acidemia, Dystonia, Intermittent diarrhea, Dehydration, Methylmalonic acid... ORPHA:289504
Osteootohepatoenteric Syndrome
Secretory diarrhea, Hearing impairment, Increased serum bile acid concentration, Hypokalemia, Epi... OMIM:619377
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxi... OMIM:615768
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Depression, Gait ataxia, Myoclonus, Dysmetria, Tremor, EEG with occipital epilepti... ORPHA:254881
Tay-Sachs Disease
Hearing impairment, Incoordination, Dysphagia, Mania, Poor fine motor coordination, Memory impair... ORPHA:845
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Loss of ambulation, Irritability, Thrombocytopenia, Dystonia, Hem... OMIM:615010
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
48,Xxyy Syndrome
Gastroesophageal reflux, Type II diabetes mellitus, Tremor, Attention deficit hyperactivity disor... ORPHA:10
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte... OMIM:614492
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Hearing impairment, Myoclonus, Short attention span, Tremor, ... ORPHA:391417
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Aggressive ... OMIM:612736
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Self-injurious behavior, Stereotypical hand wringing, Sensorineural hearing i... OMIM:600430
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Hypokalemia, Sync... OMIM:170390
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia, Compulsive behavio... OMIM:619405
Shwachman-Diamond Syndrome
Aplastic anemia, Hearing impairment, Pancytopenia, Increased serum bile acid concentration, Impai... ORPHA:811
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Vertigo, Inc... ORPHA:90041
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Pulmonary a... OMIM:615474
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperacti... OMIM:620292
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Rasmussen Subacute Encephalitis
Hemidystonia, Involuntary movements, Memory impairment, Continuous spike and waves during slow sl... ORPHA:1929
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... ORPHA:352490
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Distal sensor... OMIM:618387
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... ORPHA:94089
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Memory impairment, Depression, Resting tremor, Hearing impairment, Impaired... OMIM:300623
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Neurodegeneration, Sensorineural hearing impairment, Diffuse cerebral atrophy... OMIM:214150
Rabson-Mendenhall Syndrome
Precocious puberty, Polydipsia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Ca... ORPHA:769
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Dehydration, Osmotic diarrhea, Hypercalcemia, Hypernatremia ORPHA:35710
Huntington Disease-Like 2
Memory impairment, Depression, Bradykinesia, Chorea, Action tremor, Rigidity, Irritability, Weigh... OMIM:606438
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Failure to thrive, Inability to walk, EEG with generalized slow activity, Chorea, Sho... OMIM:617864
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Hartnup Disorder
Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Hyp... OMIM:234500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Abnormal fear-induced behavior, Hearing impairment, Pseudobulbar paralysis, Aggressiv... ORPHA:208441
Ethylene Glycol Poisoning
Hypotension, Vomiting, Congestive heart failure, Shock, Hypocalcemia, Pulmonary edema, Gastritis,... ORPHA:31826
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... OMIM:616795
Foxg1 Syndrome
Gastroesophageal reflux, Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wring... ORPHA:561854
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Frequent falls, Difficulty ... OMIM:302800
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff... ORPHA:101077
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Decreased nerve conduction velocity, Pancytope... OMIM:159550
Propionic Acidemia
Vomiting, Cerebral atrophy, Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Cerebe... OMIM:606054
Addison Disease
Diarrhea, Adrenal calcification, Anorexia, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen in... ORPHA:85138
Parkinson Disease 14, Autosomal Recessive
Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation... OMIM:612953
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circula... OMIM:208920
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Broad-based gait, Small for gestational age, Increased HbA2 hemoglobin,... OMIM:616943
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal ... ORPHA:99750
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Sensorineural hearing impairment ORPHA:3225
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Thrombocytopenia, At... OMIM:127550
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Abnormal ... ORPHA:363558
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Spasticity, Optic atrophy, Depression, Generalized dystonia, Emotional labi... OMIM:614298
Corticobasal Syndrome
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... ORPHA:454887
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Gait at... OMIM:618917
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Irritability, Lethargy, Limb hypertonia, Hyperphenylala... OMIM:233910
Progressive Supranuclear Palsy
Blepharospasm, Memory impairment, Falls, Depression, Emotional lability, Tremor, Rigidity, Dyston... ORPHA:683
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism... ORPHA:329284
Chronic Hiccup
Abnormal eating behavior, Dehydration ORPHA:396
Immunodeficiency 8 With Lymphoproliferation
Recurrent otitis media, Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Tremor, Hypokalemia, Increased circulating T4 concentration, Increased circulating free T... OMIM:613239
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Liddle Syndrome
Cerebral ischemia, Hypokalemia, Arrhythmia, Constipation, Hypertension ORPHA:526
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Spasticity, Involuntary movements, Optic atrophy, Failure to thrive, Diffic... ORPHA:442835
Inherited Creutzfeldt-Jakob Disease
Emotional lability, Abnormal pyramidal sign, Bradykinesia, Progressive cerebellar ataxia, Slurred... ORPHA:282166
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Constipation, Hyperactivity, Ataxia,... OMIM:618430
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Hearing impairment OMIM:248510
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, EEG with spike-wave complexes, Obsessive-compulsive trait, Tremor, Limited knee e... ORPHA:36387
Behr Syndrome
Optic atrophy, Frequent falls, Hamstring contractures, Dysmetria, Tremor, Babinski sign, Gait dis... OMIM:210000
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Prominent ear helix, Large earlobe, Inability to walk, Motor stereotypy ORPHA:411986
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Congenital Disorder Of Glycosylation, Type Iibb
Low-set ears, Spasticity, Failure to thrive, Tetraparesis, Antalgic gait, Tremor, Aggressive beha... OMIM:620546
Potocki-Lupski Syndrome
Gastroesophageal reflux, Hearing impairment, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypo... OMIM:610883
Pelizaeus-Merzbacher Disease
Mental deterioration, Broad-based gait, Hearing impairment, Progressive spastic quadriplegia, Abn... OMIM:312080
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalem... OMIM:613677
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... ORPHA:66624
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Classic Galactosemia
Mental deterioration, Depression, Incoordination, Speech apraxia, Postural tremor, Gait imbalance... ORPHA:79239
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Hearing impairment, Inability to walk, Gait ataxia, Recurrent hand flapping, ... OMIM:619580
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Inability to wa... OMIM:614254
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic ... ORPHA:101016
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Atresia of the external auditory canal, Hearing im... OMIM:612562
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Coffin-Siris Syndrome 6
Low-set ears, Gastroesophageal reflux, Conductive hearing impairment, Attention deficit hyperacti... OMIM:617808
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Oligohydramnios, Polyhydramnios, Poster... OMIM:618027
Early-Onset Familial Hypoaldosteronism
Hypotension, Vomiting, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-d... ORPHA:556030
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Elbow flexion contracture, R... ORPHA:306692
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Hearing impairment, Impaired pain sensation, Tremor, Gait dis... ORPHA:101075
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia, Abnormal autonomic nervous system physiology, Ataxia ORPHA:163921
Harlequin Ichthyosis
Self-injurious behavior, Sudden cardiac death, Hearing abnormality, Dehydration ORPHA:457
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Cerebral atrophy, Recurrent hand flapping, Dystonia, Macrotia OMIM:617268
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Irritability, Neutropenia,... OMIM:229050
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Hearing impairment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620157
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Low-set ears, Chorea, Facial telangiectasia, Gait ataxia, Self-mutilation, Hyperactivity, Paroxys... OMIM:620445
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Ogden Syndrome
Low-set ears, Shuffling gait, Cardiogenic shock, Abnormal head movements, Cerebral atrophy, Arrhy... ORPHA:276432
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Dehydration, Anorexia, Cardiomyopathy, Chorea, Abn... ORPHA:2131
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Osteopenia, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia... OMIM:617810
Autosomal Agammaglobulinemia
Diarrhea, Neutropenia, Chronic otitis media, Abnormal pinna morphology, Dehydration ORPHA:33110
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy, Inability to walk OMIM:613443
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Manganese Poisoning
Memory impairment, Depression, Confusion, Inappropriate laughter, Akinesia, Cogwheel rigidity, Po... ORPHA:306682
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypertension, Hypokalemia OMIM:605635
4Q21 Microdeletion Syndrome
Self-injurious behavior, Low-set ears, Hearing impairment, Tremor, Motor stereotypy ORPHA:238750
Birk-Landau-Perez Syndrome
Optic atrophy, Progressive sensorineural hearing impairment, Difficulty walking, Limb ataxia, Inc... OMIM:617595
Infantile Neuroaxonal Dystrophy
Ataxia, Mental deterioration, Spasticity, Optic atrophy, Spastic tetraparesis, Short attention sp... ORPHA:35069
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Vomiting, Decreased circulating carnitine conce... ORPHA:79159
Acquired Aneurysmal Subarachnoid Hemorrhage