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Gene: Kcne1 MGI:96673

Gene Summary

Name:

potassium voltage-gated channel, Isk-related subfamily, member 1

Synonyms:

nmf190, MinK, Isk

Order Alleles

IMPC Data Collections

Body Weight Measurements
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	Allele	Zyg	Life Stage	P Value
abnormal auditory brainstem response	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.05×10^-21
tremors	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.55×10^-06
increased neutrophil cell number	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.04×10^-12
increased mean corpuscular volume	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.23×10^-11
decreased total body fat amount	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.23×10^-09
increased monocyte cell number	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.84×10^-09
increased circulating alanine transaminase level	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.65×10^-09
abnormal startle reflex	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.24×10^-21
trunk curl	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.77×10^-10
decreased thigmotaxis	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.24×10^-14
abnormal locomotor behavior	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.04×10^-05
abnormal gait	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.90×10^-07
abnormal motor capabilities/coordination/movement	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.67×10^-26
decreased startle reflex	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.33×10^-15
decreased vertical activity	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.77×10^-09
decreased bone mineral density	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.07×10^-10
increased circulating alkaline phosphatase level	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.84×10^-06
abnormal cued conditioning behavior	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.80×10^-07
impaired righting response	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.96×10^-11
decreased prepulse inhibition	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal behavior	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.24×10^-21
head bobbing	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.24×10^-21
hyperactivity	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased bone mineral content	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.21×10^-12
decreased lymphocyte cell number	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.84×10^-05
decreased anxiety-related response	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.65×10^-14
increased blood urea nitrogen level	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.63×10^-05
increased lean body mass	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.11×10^-05
decreased locomotor activity	Kcne1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-05

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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

15 Images

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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.

Human diseases associated with Kcne1 (5 diseases)
Human diseases predicted to be associated with Kcne1 (1355 diseases)

The table below shows human diseases associated to Kcne1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ...	ORPHA:101016
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu...	OMIM:612347
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, ...	ORPHA:90647
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Familial Atrial Fibrillation	Palpitations, Atrial fibrillation, Syncope, Myocardial infarction	ORPHA:334

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

Disease	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:300425
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Friedreich Ataxia	Decreased motor nerve conduction velocity, Diabetes mellitus, Inability to walk, Chorea, Impaired...	ORPHA:95
East Syndrome	Cerebellar atrophy, Salt craving, Ataxia, Inability to walk, Sensorineural hearing impairment, Hy...	ORPHA:199343
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:607373
Spinocerebellar Ataxia 6	Cerebellar atrophy, Ataxia, Vertigo, Dysmetria, Dysphagia, Progressive cerebellar ataxia, Truncal...	OMIM:183086
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Nausea, Abnormal circulating renin, Intracranial hemorrhage, Athe...	ORPHA:369929
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Tremor, Prelingual sensorineural hearing impairment, Abnorma...	ORPHA:52368
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Sensorineural hearing impairment, Optic atrophy, Ataxia	OMIM:136600
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi...	OMIM:619565
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ...	OMIM:300614
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Gait ataxia, Focal dystoni...	ORPHA:309169
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
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par...	ORPHA:216873
Jeavons Syndrome	Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with...	ORPHA:139431
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Dehydrati...	ORPHA:94093
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Akinesia, Gait ataxia, Abnormal cranial nerve morphology, Dysdiadochokine...	ORPHA:247234
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Pr...	ORPHA:504476
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Increased circula...	ORPHA:3240
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi...	ORPHA:276435
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intermittent diarrhea, Hypertr...	OMIM:620270
Opticocochleodentate Degeneration	Optic atrophy, Spastic tetraplegia, Cochlear degeneration, Hearing impairment	OMIM:258700
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Huntington Disease-Like 1	Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Simultanapraxia, Depression, Clumsiness,...	ORPHA:157941
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval, Broad-based gait, Aganglionic megacolon, Aggressive behavior, Ileus, Under...	OMIM:300352
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231183
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Ataxia, Repetitive compulsive behavior, Atrophy/Degeneration affecting the...	ORPHA:66634
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Salt craving, Ataxia, Sensorineural hearing impairment, Hypertension, Dysdiad...	OMIM:612780
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, Stereotypical b...	ORPHA:100973
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Ankle flexion contracture, Inability to walk, Babinski sign, Spastic tetraplegia, ...	OMIM:616657
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231169
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co...	ORPHA:401901
Ravine Syndrome	Spasticity, Ataxia, Abnormal auditory evoked potentials, Anorexia	ORPHA:99852
7Q31 Microdeletion Syndrome	Torticollis, Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Gast...	ORPHA:251061
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo	ORPHA:71518
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Nausea, Abnormal circulating renin, Intracranial hemorrhage, Hype...	ORPHA:403
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ...	ORPHA:320401
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia...	OMIM:614575
Pendred Syndrome	Hyperparathyroidism, Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ...	ORPHA:705
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Dehydration, Vomiting, Compulsive behaviors, Hypoglutaminemia, Ataxia, Elevated...	ORPHA:3008
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis...	OMIM:601382
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Nausea, Glucocortocoid-insensitive primary...	ORPHA:251274
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Flexion contracture, Cognitive impairment, Spasticity	OMIM:611105
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Gait disturbance, Abnormality of e...	OMIM:614561
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia...	OMIM:609425
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears,...	OMIM:618718
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Late-Infantile/Juvenile Krabbe Disease	Tremor, Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Loss of ambulati...	ORPHA:206443
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, EEG abnormality, Falls, Inappro...	OMIM:619150
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating creatine kinase concentration, Premature thelarche, Oral-pharyngeal dysphagi...	OMIM:616878
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Cer...	OMIM:300983
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Ataxia, Elevated circulating creatine kinase concentration, ...	ORPHA:480864
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Nausea, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal...	ORPHA:231625
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Atrophy/Degeneration a...	OMIM:617862
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase, Distal sensory impairment, Hearing impairment	OMIM:614369
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat...	OMIM:615048
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, EEG abnormality, Truncal ataxia, Abnormal repetitive manneri...	OMIM:608636
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus, Hearing impairment	OMIM:159800
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Impaired vibra...	ORPHA:95433
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic t...	ORPHA:599373
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con...	ORPHA:100924
Intrinsic Factor Deficiency	Somatic sensory dysfunction, Increased RBC distribution width, Megaloblastic anemia, Increased me...	OMIM:261000
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia	OMIM:619561
Developmental And Epileptic Encephalopathy 58	Inability to walk, Optic atrophy, Spastic diplegia, Hypsarrhythmia, Abnormal repetitive mannerisms	OMIM:617830
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar...	OMIM:615924
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ...	ORPHA:101016
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Neutropenia, Dehydration, Hyperammonemia...	ORPHA:79312
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Lower limb...	ORPHA:2169
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Syncope...	OMIM:220400
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst...	ORPHA:98807
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit...	ORPHA:90117
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Nausea, Glucocortocoid-insensitive primary hyperaldosteronism, Hy...	ORPHA:231580
Combined Oxidative Phosphorylation Deficiency 47	Posteriorly rotated ears, Sensorineural hearing impairment, Dehydration, Low-set ears, Dysphagia	OMIM:618958
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Gitelman Syndrome	Maternal diabetes, Hyperhidrosis, Iron deficiency anemia, Hypocalcemia, Prominent U wave, Abnorma...	ORPHA:358
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Gitelman Syndrome	Prolonged QT interval, Salt craving, Ataxia, Hypomagnesemia, Vertigo, Ventricular tachycardia, Hy...	OMIM:263800
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Weight loss...	ORPHA:216866
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment	OMIM:617018
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, E...	OMIM:612126
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Nausea, Glucocortocoid-insensitive primary hyperaldosteronism, Ab...	ORPHA:404
Episodic Ataxia Type 4	Abnormal head movements, Vertigo	ORPHA:79136
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:300495
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Christianson Syndrome	Cerebellar atrophy, Macrotia, Truncal ataxia, Dysphagia, Gait ataxia, Gastroesophageal reflux, In...	ORPHA:85278
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu...	ORPHA:529799
Distal Deletion 10Q	Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Unsteady gait, Cochlear...	ORPHA:96148
Usher Syndrome, Type Ie	Congenital sensorineural hearing impairment, Vestibular areflexia	OMIM:602097
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Abnormal circulating calcium concentration, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Deafness, Autosomal Recessive 103	Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia	OMIM:616042
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Elbow flexion...	OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ...	OMIM:616269
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Cystinosis	Portal hypertension, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Dehydration,...	ORPHA:213
Distal Renal Tubular Acidosis	Hemolytic anemia, Sensorineural hearing impairment, Diarrhea, Dehydration, Hypokalemia, Vomiting,...	ORPHA:18
Mohr-Tranebjaerg Syndrome	Tremor, Postlingual sensorineural hearing impairment, Dysphagia, Dystonia, Progressive sensorineu...	OMIM:304700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Broad-based gait, Hyperactivity, Lower limb spasticity, Parkinsonism, Anorexia, A...	ORPHA:3077
Usher Syndrome	Abnormal vestibular function, Ataxia, Sensorineural hearing impairment, Vestibular areflexia, Abn...	ORPHA:886
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Progressive neurologic deterioration, Tremor, Dysphagia, Choreoathetosis, Irritability,...	OMIM:261630
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Alg8-Cdg	Hyponatremia, Ataxia, Edema, Thrombocytopenia, Diarrhea, Optic atrophy, Hydrops fetalis, Vomiting...	ORPHA:79325
Woolly Hair Nevus	Precocious puberty, Enlarged vestibular aqueduct	ORPHA:79414
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Brain a...	OMIM:619092
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyhydramnios, Diarrhea, Low-to-normal blood...	OMIM:241200
Familial Cold Urticaria	Dysesthesia, Sensorineural hearing impairment, Dehydration, Hyperhidrosis, Polydipsia	ORPHA:47045
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Bruxism, Cerebral atrophy, Choreoathetosis, Gastroesophageal reflux, Dystonia,...	OMIM:618497
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju...	ORPHA:382
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre...	OMIM:128100
Intellectual Developmental Disorder, Autosomal Recessive 73	Posteriorly rotated ears, Impulsivity, Gait ataxia, Low-set ears, Recurrent hand flapping	OMIM:619717
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Low-set ears	ORPHA:436151
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra...	OMIM:615362
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Vomiting, Bilateral sensorineural hearing impairment, Dehydration	OMIM:602722
Cataract-Ataxia-Deafness Syndrome	Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia...	ORPHA:1368
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno...	ORPHA:240103
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto...	ORPHA:79262
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Diarrhea, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Pseudohy...	OMIM:264350
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v...	OMIM:601455
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, High-frequency sensorineural hearing impairment, Tremor, Inability to walk, Sensor...	ORPHA:2590
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Restless legs, Orthostatic hypotension, Rigidity, Depression, Bradykinesia, Demen...	OMIM:616710
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Reticular Dysgenesis	Abnormality of neutrophils, Diarrhea, Dehydration, Leukopenia, Chronic otitis media, Aplasia/Hypo...	ORPHA:33355
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Diarrhea, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperald...	OMIM:177735
Vestibulocochlear Dysfunction, Progressive	Vestibular areflexia, Tinnitus, Progressive hearing impairment	OMIM:193005
N-Acetylaspartate Deficiency	Short attention span, Broad-based gait, Inguinal hernia, Unsteady gait, Truncal ataxia, Decreased...	OMIM:614063
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Juvenile Huntington Disease	Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive...	ORPHA:248111
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Stepp...	ORPHA:206594
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ...	OMIM:128235
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping	OMIM:300624
Hypokalemic Tubulopathy And Deafness	Sensorineural hearing impairment, Hyperaldosteronism, Increased circulating renin level	OMIM:619406
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Hypertonic dehydration, Vomiting, Constipation, Polydipsia, Hyper...	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration, Vomiting, Constipation, Polydipsia, Hypernatremia, Diabetes insipidus	OMIM:304800
Landau-Kleffner Syndrome	Speech apraxia, Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Short a...	ORPHA:98818
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal...	OMIM:617695
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Flexion contracture, Optic atro...	OMIM:609260
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios, Anorexia, Nephrogenic diabetes insipidus, Hypovolemia,...	ORPHA:223
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Vertigo, Increased hemoglobin, Increase...	OMIM:133100
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Recurrent hand flapping, Posteriorly rotated ears, Low-set ears	OMIM:618147
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment	ORPHA:217012
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski...	OMIM:617225
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Sensorineural hearing impairment, Vestibular areflexia	OMIM:609006
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, De...	ORPHA:99886
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ...	OMIM:613839
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Inability to walk, Self-injurious behavior, EEG abnormality, Dystonia, Spa...	OMIM:617820
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,...	ORPHA:99027
Developmental And Epileptic Encephalopathy 56	EEG with polyspike wave complexes, Joint laxity, Broad-based gait, Ataxia, Poor coordination, EEG...	OMIM:617665
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete...	ORPHA:240085
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive...	OMIM:239500
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Abnormality of the thyroid gland, A...	OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r...	OMIM:617270
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi...	OMIM:301107
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Portal hypertens...	OMIM:609136
Rett Syndrome	Gait apraxia, Truncal ataxia, Bruxism, Gait ataxia, Gastroesophageal reflux, Constipation, Dyston...	OMIM:312750
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, EEG with continuous slow ...	ORPHA:275864
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Hypocalcemia...	ORPHA:699
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression...	OMIM:618093
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy, Ataxia, Hearing impairment	ORPHA:1186
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Dysphagia, Choreoathetosis, Bilateral s...	OMIM:619422
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Facial palsy, Tremor, Dementia, Tongue fascic...	OMIM:159950
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Immunodeficiency 82 With Systemic Inflammation	Intractable diarrhea, Decreased proportion of naive T cells, Gastritis, Elevated circulating C-re...	OMIM:619381
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Polyhydramnios, Edema, Sensorineural hearing impairment, Hypochlo...	OMIM:613090
Ectopic Aldosterone-Producing Tumor	Epistaxis, Nausea, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalem...	ORPHA:231632
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick...	OMIM:614104
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Gastroesophageal reflux, Constipation, Dysphagia, Macrotia, Abnor...	DECIPHER:45
Bartter Syndrome Type 4	Hyponatremia, Polyhydramnios, Dehydration, Protruding ear, Hypochloremia, Hypertension, Hyperacti...	ORPHA:89938
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Joint hypermobility, Hearin...	OMIM:617052
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Splen...	OMIM:617302
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Frequent falls, Tinnitus	OMIM:617691
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Short attention span, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tan...	OMIM:619028
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,...	OMIM:617013
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty...	OMIM:613608
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu...	OMIM:611590
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Paresthesia, Hypocalcemia, Vomiting, H...	OMIM:175500
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG a...	OMIM:618218
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Bruxism, Protruding...	OMIM:618342
Atypical Rett Syndrome	Restrictive behavior, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, ...	ORPHA:3095
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n...	ORPHA:99014
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti...	ORPHA:486
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Dehydration, Hyperammonemia, Choreoat...	ORPHA:27
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment, Hyperlysinemia, Anemia	OMIM:238700
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Polyhydramnios, Edema, Sensorineural hearing impairment, Hydrops ...	OMIM:602522
Charcot-Marie-Tooth Disease Type 1F	Restless legs, Absent brainstem auditory responses, Impaired proprioception, Hand tremor, Gait at...	ORPHA:101085
Branchiootorenal Syndrome 1	Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch...	OMIM:113650
Infantile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Dysphagia, Clumsine...	ORPHA:79263
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Optic nerve hypoplasia, Gastroesophageal reflux, Constipation, Low-set ear...	OMIM:620029
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, EEG with spike-wave complexes, Aggressive...	ORPHA:228360
Hereditary Coproporphyria	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Long hairs growing from ...	ORPHA:79273
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Short attention span, Parkinsonism, Chorea, Babinski sign, Dysphagia, Gait ataxia...	ORPHA:225147
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level, V...	OMIM:620126
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Small for gestational age, Progressive neurologic deterioration, ...	OMIM:261640
Epilepsy, Progressive Myoclonic 7	Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus, Mental deterioration	OMIM:616187
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia...	OMIM:616881
Dpagt1-Cdg	Prolonged QT interval, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Optic at...	ORPHA:86309
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors	OMIM:159900
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ...	OMIM:617807
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95513
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn...	OMIM:611584
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:79443
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu...	OMIM:612347
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hypopar...	ORPHA:199299
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Dehydration, Protruding ear, Gastroesophageal reflux, Compuls...	ORPHA:534
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Hypsarrhythmia, Hypertonia, Macrotia, Abnormal repetitive mannerisms, Hearing ...	OMIM:619877
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine...	OMIM:612716
Spinocerebellar Ataxia Type 12	Postural tremor, Ataxia, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Inappropriat...	OMIM:600795
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Adrenal hypoplasi...	ORPHA:95409
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level, H...	OMIM:620125
Infant Botulism	Hyponatremia, Cardiac arrest, Anorexia, Bowel incontinence, Xerostomia, Hypertension, Constipatio...	ORPHA:178478
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Obsessive-compulsive trait, Gait distu...	ORPHA:544254
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Myocardial infarction, Tremor, Gait distur...	ORPHA:457240
Cockayne Syndrome Type 1	Lower limb spasticity, Absent brainstem auditory responses, Failure to thrive, Ataxia, Scarring, ...	ORPHA:90321
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, ...	ORPHA:90647
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Tremor, Hyperhidrosis,...	ORPHA:466677
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Congestive ...	ORPHA:682
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irr...	OMIM:233910
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Elevated circulating creatine kinase concentration, Facial palsy, Hearing impairment, Opt...	ORPHA:254886
Mercury Poisoning	Tachycardia, Anorexia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia, Episodic vomitin...	ORPHA:330021
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Joint laxity, Hyperactivity, Ataxia, Elevated circulating cre...	OMIM:615673
Distal Deletion 3P	Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Hearing impairment	ORPHA:1620
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Dehydration, H...	ORPHA:171876
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Abnormal dental enamel morphology, Hypercalcemia, Craniosynostosis, Recurrent...	ORPHA:251004
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Depression, Limb...	ORPHA:71517
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Self-injurious behavior, Dystonia, Macro...	OMIM:618004
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Parkinsonism, Ob...	OMIM:300055
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Congenital sensorineural hearing impairment, Elevated circulating creatinine concen...	OMIM:617872
Saccharopinuria	Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Gait ataxia, Spastic diplegia, Dis...	ORPHA:3124
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation, Thr...	OMIM:615010
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Polyhydramnios, Secretory diarrhea, Dehydration, Hypochloremia, Hyperactive renin-a...	OMIM:214700
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Ataxia, Reduced intraab...	ORPHA:363400
Apert Syndrome	Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Hyperten...	ORPHA:87
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor...	ORPHA:500180
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai...	OMIM:617916
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea...	OMIM:610198
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad...	ORPHA:363710
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Diarrhea, Neuromu...	ORPHA:449285
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Central Diabetes Insipidus	Hyponatremia, Anorexia, Diarrhea, Dehydration, Polydipsia, Diabetes insipidus	ORPHA:178029
Hartnup Disorder	Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional l...	OMIM:234500
Autoimmune Hypoparathyroidism	Prolonged QT interval, Autoimmune hypoparathyroidism, Abnormal left ventricular function, Hypocal...	ORPHA:36913
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, H...	OMIM:617435
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Tremor, Limb ataxia, Hand tremor, Gait ataxia, Depression, Gait di...	ORPHA:98764
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co...	OMIM:615157
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration, Vomiting, Dystonia, Intermittent diar...	ORPHA:289504
Urocanase Deficiency	Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at...	OMIM:615768
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Huntington Disease-Like 3	Psychomotor deterioration, Abnormal head movements, Broad-based gait, Extrapyramidal muscular rig...	ORPHA:157946
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Splenomegaly, Ve...	ORPHA:90041
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia, Myo...	OMIM:605899
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Diarrhea, Dehydration, Vomiting, Type I diabetes mellitus, Hearing impairment	OMIM:560000
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder	OMIM:617113
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Spinocerebellar Ataxia Type 36	Ataxia, Vertigo, Babinski sign, Limb myoclonus, Dysmetria, Limb ataxia, Dysphagia, Hand tremor, I...	ORPHA:276198
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr...	ORPHA:57777
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, H...	ORPHA:811
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P...	OMIM:170390
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Dista...	OMIM:618387
Hsd10 Disease	Short attention span, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance,...	ORPHA:391417
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive	OMIM:619651
Osteootohepatoenteric Syndrome	Secretory diarrhea, Dehydration, Hypokalemia, Increased serum bile acid concentration, Episodic v...	OMIM:619377
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,...	OMIM:601068
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, ...	ORPHA:254881
Rasmussen Subacute Encephalitis	Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Increased theta frequency ...	ORPHA:1929
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My...	OMIM:612736
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Athetosis, Second degree atrioventricular block, Hypertension, Hypokalemia, Primary hyperaldoster...	OMIM:615474
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Hyperactivity, Aggressive behavior, Hypothyroidism, Sensorineural hearing imp...	OMIM:600430
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi...	ORPHA:352490
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Gastroesophageal reflux, Attention deficit hyperactivity diso...	OMIM:620292
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Sensorineural hearing impairment, Abnormality of th...	OMIM:214150
Rabson-Mendenhall Syndrome	Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin...	ORPHA:769
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, EEG abnormality, Falls, Myoclonus, EEG with focal sharp slow ...	ORPHA:2382
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Delirium...	ORPHA:208441
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Weight loss, Deme...	OMIM:606438
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression...	OMIM:616795
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with...	ORPHA:363558
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Hearing impairment, Impaired distal vibration sens...	OMIM:300623
Tsh-Secreting Pituitary Adenoma	Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, ...	ORPHA:91347
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Gastritis, ...	ORPHA:31826
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Impulsivity, Pa...	OMIM:614298
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Achilles tendon c...	OMIM:302800
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior, Hearing impairment	OMIM:248510
Parkinson Disease 14, Autosomal Recessive	Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel...	OMIM:612953
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia...	ORPHA:1215
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Babinski sign, Impaired...	OMIM:159550
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Decreased serum iron, Repetitive compulsive behavior, Abnormality of the ear, ...	ORPHA:391372
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, I...	OMIM:208920
Glucose-Galactose Malabsorption	Hypercalcemia, Diarrhea, Dehydration, Vomiting, Hypernatremia	ORPHA:35710
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre...	OMIM:300946
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage, Neutropenia, Dehydration, Cerebral atrophy...	OMIM:606054
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Sensorineural hearing impairment	ORPHA:3225
Foxg1 Syndrome	Inability to walk, Bruxism, Choreoathetosis, Gastroesophageal reflux, Constipation, Difficulty wa...	ORPHA:561854
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili...	ORPHA:66624
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk...	ORPHA:101077
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lym...	OMIM:127550
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, EEG with persistent abnormal rhythmic activity, Gait ata...	ORPHA:282166
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Akinesia, Limb apraxia,...	ORPHA:454887
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At...	ORPHA:206448
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, In...	OMIM:617864
Chronic Hiccup	Dehydration, Abnormal eating behavior	ORPHA:396
Liddle Syndrome	Hypertension, Hypokalemia, Cerebral ischemia, Constipation, Arrhythmia	ORPHA:526
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Beta-Propeller Protein-Associated Neurodegeneration	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Bradykinesia, Dementia, Abnor...	ORPHA:329284
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Prominent ear helix, Large earlobe, Occipital cortical atrophy, Abnormal repet...	ORPHA:411986
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea...	ORPHA:442835
48,Xxyy Syndrome	Hypergonadotropic hypogonadism, Ataxia, Tremor, Gastroesophageal reflux, Type II diabetes mellitu...	ORPHA:10
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hor...	ORPHA:94090
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circula...	OMIM:613677
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, D...	ORPHA:556030
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Progressive Supranuclear Palsy	Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Abnormal synaptic transmission, Bradykin...	ORPHA:683
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, Hypothyroidism, Gastroesophageal reflux, Hypocholestero...	OMIM:610883
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Constipation, Compulsive be...	OMIM:618430
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Optic atrophy, Dysmetr...	OMIM:210000
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Tics, Gastroesophageal reflux, Low-set ears, Attention deficit hyperact...	OMIM:617808
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:95512
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha...	OMIM:618917
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting...	OMIM:619580
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Irritability, Neutropenia,...	OMIM:229050
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Depre...	OMIM:312080
Classic Galactosemia	Speech apraxia, Incoordination, Postural tremor, Ataxia, Abnormal erythrocyte enzyme level, Osteo...	ORPHA:79239
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity, He...	ORPHA:101075
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, EEG with spike-wave complexes, Tremor, Bradykinesia, Poor fine motor coor...	ORPHA:36387
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Ataxia, Abnormal autonomic nervous system physiology, Dystonia	ORPHA:163921
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Bruxism, Cerebral atrophy, Self...	OMIM:614254
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal telangiectasia, Optic nerve hypoplasia, Hearing impairment	OMIM:620157
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Harlequin Ichthyosis	Sudden cardiac death, Hearing abnormality, Self-injurious behavior, Dehydration	ORPHA:457
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Polyhydramnios, Oligohydramnios,...	OMIM:618027
Birk-Landau-Perez Syndrome	Optic atrophy, Hyperkalemia, Limb ataxia, Increased circulating creatine kinase MB isoform, Chore...	OMIM:617595
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Atresia of the ex...	OMIM:612562
Ogden Syndrome	Abnormal head movements, Torticollis, Cerebral atrophy, Shuffling gait, Low-set ears, Cardiogenic...	ORPHA:276432
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Ap...	OMIM:617810
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Macrotia, Cerebral atrophy, Self-injurious behavior, Dystonia, Recurrent hand flapping	OMIM:617268
4Q21 Microdeletion Syndrome	Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment	ORPHA:238750
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy...	ORPHA:240094
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Dehydration, Vomiting, ...	ORPHA:79159
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Manganese Poisoning	Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Memory impairment, Dep...	ORPHA:306682
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,...	OMIM:603472
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Precocious puberty, Large earlobe, Gastroesopha...	OMIM:619312
Alternating Hemiplegia Of Childhood	Ataxia, Cardiac conduction abnormality, Anorexia, Tremor, Oral-pharyngeal dysphagia, Chorea, Aggr...	ORPHA:2131
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration...	OMIM:274150
Autosomal Agammaglobulinemia	External ear malformation, Diarrhea, Dehydration, Neutropenia, Chronic otitis media	ORPHA:33110
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Difficulty walking, Dystonia, Abnormal repetitive mannerisms, ...	ORPHA:280763
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Abnormal central motor function...	ORPHA:760
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyhydra...	OMIM:601678
Intellectual Developmental Disorder With Autism And Macrocephaly	Pica, Constipation, Recurrent hand flapping, Posteriorly rotated ears	OMIM:615032
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Leukocytosi...	ORPHA:90065
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ...	OMIM:606693
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Increased nuchal translucency, Unsteady gait, Pica, Fetal intraventricular hemorrhage, Constipati...	OMIM:618480
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Bilateral conductive hearing impairment,...	OMIM:617802
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Gastroesophageal reflux, Difficulty walking, Abnormal repetitive mannerisms, Cerebral atrophy	OMIM:617393
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi...	ORPHA:157846
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Dehydration, Bloody diarrhea, Leuko...	ORPHA:99826
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Chorea, Abnormal pyramidal sign, Opisthotonus, Gait ataxia, Hypertonia, Lethargy, Facial palsy, C...	OMIM:607483
Cocaine Intoxication	Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:90068
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa...	OMIM:614307
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Dysphagia,...	OMIM:300260
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Vertigo, Diarrhea, Hyperinsulinemia, Elevated circulating ...	ORPHA:230
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Polyhydramnios, B...	ORPHA:496641
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Chronic constipation, C...	OMIM:617061
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Paresthesia, Hyp...	OMIM:601198
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Spastic tetr...	ORPHA:35069
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Ataxia, Elevated circulating creatine kinase concentration, Na...	ORPHA:466650
Diamond-Blackfan Anemia 6	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia...	OMIM:612561
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Otosclerosis, Decreased response to growth hormone stimulation test, Aggre...	ORPHA:529962
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity, Gait disturbance, H...	ORPHA:101078
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Elevated circulating th...	OMIM:618183
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Hearing impairment, Nephrogenic diabetes insipidus, Conjugated hyperbilirubinemia, Dehydration, L...	OMIM:208085
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ...	OMIM:620021
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Sensorineural hearing impairment, Thrombocytopenia, Self-injurious behavior, C...	ORPHA:457351
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Ataxia, Myocardial infarction, Anorexia,...	ORPHA:3452
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype...	OMIM:615751
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, EEG with spike-wave comple...	OMIM:619317
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A...	OMIM:309548
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ...	OMIM:610600
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti...	OMIM:619435
Dravet Syndrome	Short attention span, Incoordination, Parkinsonism, Impulsivity, Rigidity, Multifocal epileptifor...	ORPHA:33069
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Frontotemporal dementia, Depression, Bradykinesia, Weig...	OMIM:168605
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:79444
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Hyperhomocystinemia, Normochromic ane...	OMIM:614857
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia, Ataxia, Neutropenia	OMIM:616949
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Continuous spike and waves during slow sleep, Chorea, Low-set ears, Bruxism, ...	OMIM:620149
Beta-Ketothiolase Deficiency	Ataxia, Edema, Anorexia, Leukocytosis, Diarrhea, Dehydration, Hyperammonemia, Hypertension, Agita...	ORPHA:134
Colchicine Poisoning	Hyponatremia, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolemia, Abnormal blood io...	ORPHA:31824
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Neurodegeneration With Brain Iron Accumulation 5	Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Abnormal a...	OMIM:300894
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:608049
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Pulmonary embolism, Megaloblastic anemia, Atro...	ORPHA:79282
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr...	OMIM:137440
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia	ORPHA:306669
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	OMIM:615926
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Flexion contracture, Slurr...	ORPHA:137898
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Gait ataxia, Gastroesophageal reflux, Brain atrophy, Low-set ears, Abnor...	OMIM:616579
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:26793
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py...	ORPHA:240071
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal pyramidal sign, Progressive psychomotor deterioration, Abnormal motor evoked...	ORPHA:909
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim...	ORPHA:2388
Noonan Syndrome	Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Lymphedema, Aplasia of the semi...	ORPHA:648
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Optic atrophy, Low-set ears	OMIM:608688
Oculopharyngodistal Myopathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural hearing impairm...	OMIM:619473
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive...	OMIM:619690
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, G...	OMIM:123450
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen...	OMIM:615127
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Vomiting, Hypotension...	OMIM:203400
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity, Sensorineural hearing impairment, Cerebral atrophy, Bradycardi...	OMIM:609924
Vipoma	Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormone concentratio...	ORPHA:97282
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Abnormal repetitive manne...	ORPHA:449291
Secondary Short Bowel Syndrome	Aganglionic megacolon, Diarrhea, Low plasma citrulline, Abnormal blood ion concentration, Dehydra...	ORPHA:95427
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li...	OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Hearing impairment, Bruxism, Abnormal repetitive mannerisms, Oligohydramnios	OMIM:616351
Hartsfield Syndrome	Posteriorly rotated ears, Gonadotropin deficiency, Low-set ears, Hypernatremia, Diabetes insipidus	OMIM:615465
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, EEG abnormality, Hyperkineti...	OMIM:271980
Nathalie Syndrome	Abnormal EKG, Hearing impairment	OMIM:255990
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Optic atrophy, Hyperammonemia, Choreo...	ORPHA:289916
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Eosinophilic infiltration of the esophagus, Hypoalbuminemia, Pulmonic stenosis, Hypernatremia, Re...	OMIM:615508
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental...	ORPHA:542310
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia	OMIM:615282
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Epistaxis, Impulsivity, Aggressive behavior, Upper eyelid ed...	ORPHA:293939
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ...	OMIM:617101
Smith-Magenis Syndrome	Hypertriglyceridemia, Impaired pain sensation, Precocious puberty, Abnormal repetitive mannerisms...	ORPHA:819
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Tremor, Sensorineural hearing impairment, Limitation of joi...	ORPHA:1192
Parkinsonism-Dystonia 1, Infantile-Onset	Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign...	OMIM:613135
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Chronic constipation, ...	OMIM:616977
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, EEG with generalized slow activity, Ataxia, EEG with spike-wave complexes, Aggress...	ORPHA:168491
Gorham-Stout Disease	Torticollis, Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Charge Syndrome	Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Facial palsy, Polyhydramnios, E...	ORPHA:138
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi...	OMIM:618587
Ck Syndrome	Hyperactivity, Abnormal circulating cholesterol concentration, Posteriorly rotated ears, Aggressi...	ORPHA:251383
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Acute hyperammonemia, Ataxia, Confusion, Hyperglutaminemia, Hyperammonemia, Emotional lability, P...	ORPHA:927
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Hyperactivity, Inguinal hernia, Aggressive behavior, Chorea, Unsteady gait...	ORPHA:485350
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, Gastroesophageal reflux, Constipati...	OMIM:613454
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia...	OMIM:601005
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Decreased nerve conduction velocity, ...	ORPHA:329478
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Macrotia, Lymphopenia, Abnormal repetitive mannerisms	ORPHA:391307
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Self-b...	ORPHA:3306
Chédiak-Higashi Syndrome	Edema, Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Short attention span, Broad-based gait, Hyperactivity, Ataxia, ...	ORPHA:98794
Oslam Syndrome	Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Legionnaires Disease	Hyponatremia, Pericarditis, Ataxia, Anorexia, Myocarditis, Splenomegaly, Diarrhea, Hypotension, A...	ORPHA:549
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis, Decreased response to growth hormone stimulation test, Pseudoh...	ORPHA:94089
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Inapprop...	ORPHA:411515
Japanese Encephalitis	Decreased motor nerve conduction velocity, Hyponatremia, Neutrophilia, Facial palsy, Anorexia, Tr...	ORPHA:79139
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity...	OMIM:619556
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Vomiting, Abnor...	OMIM:241150
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Abnormal repetitive mannerisms, Sensorineural hearing impai...	OMIM:617796
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp...	OMIM:619738
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom...	ORPHA:227510
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Myofibrillar Myopathy 10	Prolonged QTc interval, Increased QRS voltage, Elevated circulating creatine kinase concentration	OMIM:619040
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Elevated circulating creatine kinase concentration	OMIM:615351
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Pulmonic stenosis, Low-set ears, Attention deficit hyperactivity...	OMIM:618205
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Inability to walk, Splenomegaly, Optic atrophy, Hypertension, Hypokalem...	OMIM:617913
Dend Syndrome	Thickened ears, Vomiting, Elevated hemoglobin A1c, Dehydration	ORPHA:79134
Rett Syndrome	Increased serum pyruvate, Limb apraxia, Inability to walk, Hyperammonemia, Bradykinesia, EEG abno...	ORPHA:778
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Decreased circu...	ORPHA:320
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Ataxia, Cardiac arrest, Edema, Anorexia, Leukocytosis, Dilated cardiomyopathy...	ORPHA:20
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Intellectual Developmental Disorder, Autosomal Recessive 61	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Unsteady gait, Dysmetria, Brain atr...	OMIM:617773
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva...	ORPHA:90793
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop...	ORPHA:398124
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Episodic vomiting, Self-biting, Central hypo...	OMIM:300912
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem...	OMIM:620152
X-Linked Cerebral Adrenoleukodystrophy	Hoffmann sign, Dysmetria, Hyperactivity, Ataxia, Confusion, Abnormal circulating fatty-acid conce...	ORPHA:139396
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Joint stiffness, Tremor, Shuff...	ORPHA:209335
Carnitine Deficiency, Systemic Primary	Elevated circulating creatine kinase concentration, Congestive heart failure, Diarrhea, Dehydrati...	OMIM:212140
4H Leukodystrophy	Ataxia, Tremor, Optic atrophy, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokinesis,...	ORPHA:289494
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Protruding ear, Increased mean corpuscular volume, Dysphagia, Thrombocyto...	ORPHA:261250
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Polyhydramnio...	OMIM:618598
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op...	ORPHA:1435
Cholera	Hyponatremia, Tachycardia, Diarrhea, Abnormal blood ion concentration, Dehydration, Hypovolemic s...	ORPHA:173
Microtriplication 11Q24.1	Attached earlobe, Posteriorly rotated ears, Hyperlipidemia, Bruxism, Hearing impairment	ORPHA:289522
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Polyhydramnios, Tremor, Congestive heart failure, Neutropenia, Dehydr...	OMIM:616271
Leprechaunism	Hyperinsulinemia, Protruding ear, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, Increa...	ORPHA:508
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Tremor, Gait ataxia, Hypogonadism,...	OMIM:300354
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co...	OMIM:607876
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Lamellar Ichthyosis	Chronic otitis media, Abnormal helix morphology, Dehydration	ORPHA:313
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi...	OMIM:610185
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Progressive heari...	ORPHA:97229
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia	ORPHA:330050
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, St...	OMIM:613280
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c...	ORPHA:361
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Hearing impairment	ORPHA:457260
Young-Onset Parkinson Disease	Restless legs, Short attention span, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Fro...	ORPHA:2828
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Neutropenia, Dehydration, Central hyp...	ORPHA:1667
Bartter Syndrome, Type 3	Hyperchloriduria, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increase...	OMIM:607364
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r...	OMIM:617751
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Postural tremor, Ataxia, Progressive flexion contractures, Par...	ORPHA:98808
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy...	OMIM:612541
Megalocornea-Intellectual Disability Syndrome	Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Protruding ear, Hyperch...	ORPHA:2479
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Acute colitis, Myocardial infarction, Leukocytosis, Schistocytosis...	ORPHA:90038
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment	OMIM:614896
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns...	ORPHA:1942
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Oligomeganephronia	Optic disc coloboma, Elevated circulating creatinine concentration, Dehydration, Hypertension, Po...	ORPHA:2260
Trisomy X	Tremor, Depression, Joint hyperflexibility, Cognitive impairment, Attention deficit hyperactivity...	ORPHA:3375
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H...	OMIM:263400
Crigler-Najjar Syndrome Type 1	Tremor, Unconjugated hyperbilirubinemia, Memory impairment, Neonatal hyperbilirubinemia, Hearing ...	ORPHA:79234
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se...	OMIM:619827
Tick-Borne Encephalitis	Somatic sensory dysfunction, Facial palsy, Elevated circulating C-reactive protein concentration,...	ORPHA:297
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Choreoathetosis, Gastroesophageal reflux, Attention deficit hyp...	ORPHA:261197
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repe...	OMIM:612069
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Vomiting, Dehydration	OMIM:610370
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Flexion contra...	OMIM:609541
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, EEG with gener...	ORPHA:163681
Classic Phenylketonuria	Tremor, Mental deterioration, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attent...	ORPHA:79254
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia	OMIM:617836
Childhood Absence Epilepsy	Punding, Jerky head movements, Attention deficit hyperactivity disorder, EEG with spike-wave comp...	ORPHA:64280
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting, Dehydration	OMIM:614265
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Rabin-Pappas Syndrome	Hyponatremia, Optic nerve hypoplasia, Retinal telangiectasia, Sensorineural hearing impairment, C...	OMIM:620155
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Spinocerebellar Ataxia 50	Ataxia, Postural tremor, Hearing impairment, Chorea, Memory impairment, Myoclonus, Head tremor, A...	OMIM:620158
Crouzon Syndrome	Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment	ORPHA:207
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Increased circulating fr...	ORPHA:71212
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Acute Intermittent Porphyria	Hyponatremia, Restlessness, Somatic sensory dysfunction, Tachycardia, Tremor, Diarrhea, Ileus, Hy...	ORPHA:79276
Hypokalemic Periodic Paralysis	Impaired myocardial contractility, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated ...	ORPHA:681
Sialidosis Type 2	Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, Umbilical herni...	ORPHA:87876
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Congenital sensorineural hearing impairment, Sensorineural hearing impairment,...	ORPHA:500159
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent...	ORPHA:90791
Peroxisome Biogenesis Disorder 5B	Joint laxity, Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Elevated circulati...	OMIM:614867
Tako-Tsubo Cardiomyopathy	Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula...	ORPHA:66529
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Asc...	ORPHA:284227
Phelan-Mcdermid Syndrome	Broad-based gait, Palpebral edema, Lymphedema, Impaired pain sensation, Aggressive behavior, Unst...	OMIM:606232
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Distal senso...	OMIM:118300
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,...	OMIM:619260
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Alazami Syndrome	Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty...	ORPHA:319671
Secondary Intestinal Lymphangiectasia	Lymphopenia, Intestinal obstruction, Intestinal lymphedema, Edema, Lymphedema, Right ventricular ...	ORPHA:90363
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens...	OMIM:600363
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Edema, Increased circulating ferritin c...	OMIM:603553
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Hydroxykynureninuria	Tachycardia, Congenital sensorineural hearing impairment, Abnormal circulating tryptophan concent...	ORPHA:79155
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Dehydrati...	ORPHA:411634
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abnormal pyram...	ORPHA:280219
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Postural tremor, Elevated circulating creatine kinase concentration,...	ORPHA:64753
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Postural tremor, Parkinsonism, Rigidity, Unsteady gait, Bab...	OMIM:183090
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, B...	ORPHA:369939
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Distal sensory impairmen...	OMIM:616719
Porphyria Variegata	Hyponatremia, Somatic sensory dysfunction, Tachycardia, Abnormal circulating porphyrin concentrat...	ORPHA:79473
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Abnormal pinna morphology, Polyhydram...	ORPHA:79324
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Cdkl5-Deficiency Disorder	Impaired pain sensation, Gait disturbance, Inappropriate laughter, Difficulty walking, Bruxism, S...	ORPHA:505652
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Craniosynostosis, Attention deficit hyperactivity disorder, Abnormal repetitive m...	OMIM:618906
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Tremor, Osteoporosis, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Difficu...	ORPHA:529665
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hyperammonemia, Dehydration	ORPHA:28
Majeed Syndrome	Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl...	OMIM:609628
Alpha-Methylacetoacetic Aciduria	Vomiting, Dehydration	OMIM:203750
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia, Recurrent hand flapping	OMIM:618141
Intellectual Developmental Disorder, Autosomal Recessive 79	Intention tremor, Broad-based gait, Tongue thrusting, Gait ataxia	OMIM:620393
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Optic Atrophy-Intellectual Disability Syndrome	Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h...	ORPHA:401777
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Crouch gait, Failure to thrive	OMIM:620145
Lactase Deficiency, Congenital	Diarrhea, Dehydration	OMIM:223000
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Chorea, Babinski sign, Optic atrophy, Dysmetria...	OMIM:610217
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at...	ORPHA:98768
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi...	OMIM:618056
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:616341
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ...	OMIM:620023
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio...	ORPHA:90795
Holoprosencephaly	Hyponatremia, Diabetes mellitus, External ear malformation, Anterior hypopituitarism, Chorea, Abn...	ORPHA:2162
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Flexion contracture, Athetosis, EEG abnormality, Hypertonia	OMIM:617106
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Posteriorly rotated ears, Ataxia, Prominent crus of helix, Inability to walk,...	OMIM:617804
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Secretory diarrhea, Dehydration, Hypertension, Vomiting	OMIM:616069
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Dementia, Ab...	OMIM:168600
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter	OMIM:188580
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia	OMIM:611489
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperactivity disorder, Abno...	ORPHA:1727
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Shigellosis	Hyponatremia, Acute colitis, Anorexia, Myocarditis, Leukocytosis, Peritonitis, Abnormal blood ion...	ORPHA:810
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Ataxia-Telangiectasia	Failure to thrive, Ataxia, Tremor, Gait disturbance, Cognitive impairment, Spasticity, Lymphopenia	ORPHA:100
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentrati...	ORPHA:52503
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem...	ORPHA:53351
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Somatic sensory dysfunction, Diabetes mellitus, Optic atrophy, Progressive cerebell...	ORPHA:1177
X-Linked Adrenoleukodystrophy	Hyperactivity, Incoordination, Somatic sensory dysfunction, Aggressive behavior, Paralysis, Parap...	ORPHA:43
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi...	ORPHA:397946
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials	OMIM:617523
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Adenylosuccinase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Opis...	OMIM:103050
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, EEG abnormality, Ataxia, Gait ataxia	OMIM:617831
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears, Fa...	ORPHA:477673
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Postural tremor, Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dysphagia, Dystonia, Lo...	OMIM:607694
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Impa...	ORPHA:320406
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Left v...	OMIM:618052
Den Hoed-De Boer-Voisin Syndrome	Posteriorly rotated ears, Ataxia, Tremor, Inability to walk, Stereotypical hand wringing, Agitati...	OMIM:619229
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa...	ORPHA:139485
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con...	OMIM:613179
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,...	OMIM:617675
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Tetraplegia, He...	OMIM:618278
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
3P25.3 Microdeletion Syndrome	Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Pulmonic stenosis, Attent...	ORPHA:435638
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atrophy, Spastic tetraplegia, ...	OMIM:617710
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Intellectual Developmental Disorder, Autosomal Dominant 51	Aggressive behavior, Chronic diarrhea, Chronic constipation, Fixated interests, Tics, Attention d...	OMIM:617788
Foxg1 Syndrome Due To 14Q12 Microdeletion	Palpebral edema, Protruding ear, Abnormal antihelix morphology, Gastroesophageal reflux, Abnormal...	ORPHA:261144
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Dysphagia, Depression, Bradykinesi...	ORPHA:411602
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements	OMIM:245348
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Decreased response to growth hormone stimulation test, Abnormal repetitive ma...	OMIM:618347
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Abnormal blood ion concentration, Dehydration, Hypokalemia, Vo...	ORPHA:411629
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Hyperactivity, Sensorineural hearing impairment, Vomiting, Neonatal...	OMIM:609727
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Elevated circulating creatine kinase concentration, El...	OMIM:606002
Stiff Person Spectrum Disorder	Exaggerated startle response, Rigidity, Falls, Difficulty walking, Emotional lability	ORPHA:3198
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Large earlobe, Bruxism	OMIM:615716
D-Glyceric Aciduria	Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Nonketotic hyperglyci...	OMIM:220120
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Dehydration	OMIM:601410
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Tremor, Sp...	OMIM:608799
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Gonadotropin deficiency, P...	OMIM:214800
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Pulmonic stenosis, Abnorma...	OMIM:618914
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Oral-pharyngeal dysphagia, Hypomagnesemia, Splenomegaly, Dehydra...	OMIM:219800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Inability to walk, Gastroesophageal reflux, Brain atrophy, Hearing ...	OMIM:620114
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn...	ORPHA:247815
Blepharophimosis-Impaired Intellectual Development Syndrome	Posteriorly rotated ears, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Low-...	OMIM:619293
Infantile Krabbe Disease	Psychomotor deterioration, Lower limb spasticity, Prolonged brainstem auditory evoked potentials,...	ORPHA:206436
Hypercalcemia, Infantile, 1	Decreased circulating parathyroid hormone level, Vomiting, Hypercalcemia, Dehydration	OMIM:143880
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ch...	OMIM:619695
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:218030
White-Sutton Syndrome	Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi...	OMIM:616364
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Constipation, Abnormal repetitive man...	ORPHA:228402
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti...	OMIM:615656
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia, Dehydration, Cardiomyopathy, Leuko...	OMIM:251000
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r...	OMIM:613174
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Mental deterioration, Dysphagia, Depression, Bradykinesia...	OMIM:168601
Intellectual Developmental Disorder, X-Linked 12	Joint laxity, Small for gestational age, Tremor, Sensorineural hearing impairment, Depression, Tr...	OMIM:300957
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Aggressive behavior, Agitation, Macrotia	OMIM:300558
Hyperlysinemia	Short attention span, Hyperactivity, Neck hypertonia, Poor motor coordination, Failure to thrive,...	ORPHA:2203
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia...	OMIM:312170
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Dysphagia, Focal dystonia, Bradykinesi...	ORPHA:199351
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyhydramnios, Hypochloremia, Hypokalemia, Increased circulating renin level	OMIM:300971
Vici Syndrome	Elevated circulating creatine kinase concentration, Congestive heart failure, Sensorineural heari...	OMIM:242840
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso...	OMIM:301013
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Optic nerve hypoplasia, Inability to walk, Sensorineural hearing imp...	ORPHA:300570
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Com...	OMIM:261600
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Chronic constipation, Head tremor, Abnormal repetitive mannerisms, Cerebral cortical atrophy	OMIM:619428
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural h...	OMIM:607426
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h...	OMIM:615516
Brain Dopamine-Serotonin Vesicular Transport Disease	Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas...	ORPHA:352649
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Brain ...	OMIM:615286
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Tremor, Increased body weight, Agitation, Lethargy	ORPHA:276608
Necrotizing Enterocolitis	Shock, Hyponatremia, Edema, Leukocytosis, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Brady...	ORPHA:391673
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Optic disc pallor, Poor motor coordination, Parkinsonism, Clumsiness,...	ORPHA:79264
Pick Disease Of Brain	Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor...	OMIM:172700
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal...	ORPHA:765
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Hijazi-Reis Syndrome	Chronic constipation, Gait disturbance, Gastroesophageal reflux, Hyperbilirubinemia, Abnormal rep...	OMIM:301094
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Hearing impairment	OMIM:300958
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment, Dysphagia	OMIM:607734
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Hyponatremia, Hyperkalemia	OMIM:143860
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Hypoadrenocorticism, Familial	Hyponatremia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency, Vomiting	OMIM:240200
Macrocephaly-Developmental Delay Syndrome	Palpebral edema, Hepatosplenomegaly, Abnormal speech discrimination, Self-injurious behavior, Abn...	ORPHA:397612
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac...	OMIM:301029
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Chronic diarrhea, Low-set ears, Abnormal temper tantr...	ORPHA:457279
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Chronic constipation, Attention deficit hyperactivity di...	OMIM:618825
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Optic atrophy, Dysphagia, Spasticity, Choreoathetosis, Dystonia, Joint...	OMIM:617664
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration, Protracted diarrhea	OMIM:251850
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol...	ORPHA:990
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Transketolase Deficiency	Hearing impairment, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivit...	ORPHA:488618
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor, Attention defic...	OMIM:619680
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz)	OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear...	OMIM:616393
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Dehydration, Vomiting, Premature adrenarche, Hyponatremia, ...	ORPHA:90794
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a...	ORPHA:1170
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog...	ORPHA:70594
Liddle Syndrome 1	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:177200
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor,...	ORPHA:98771
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618126
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Gastroesophageal reflux, D...	ORPHA:208447
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Head titubation, Inability to walk, Rigidity, Truncal ataxia, Gait ataxia, ...	OMIM:618877
13Q12.3 Microdeletion Syndrome	Hyperactivity, Impaired pain sensation, Upper eyelid edema, Vomiting, Constipation, Chronic otiti...	ORPHA:412035
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Hyponatremia, Thrombocytopenia, Leukocytosis, Abnormal autonomic nervous sys...	ORPHA:83601
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity	OMIM:610297
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El...	ORPHA:289548
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Dehydration, Vomi...	OMIM:251100
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Recurrent otitis media, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremo...	OMIM:610505
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute...	ORPHA:168558
Sneddon Syndrome	Facial palsy, Tremor, Mental deterioration, Atrophic scars, Impaired distal tactile sensation, He...	OMIM:182410
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia	OMIM:617301
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Flexion contracture, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Distal...	OMIM:616505
Helix Syndrome	Anhidrosis, Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypohidrosis, Hypokalemia, Polydipsia	OMIM:617671
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Thrombocytopenia, Chronic diarr...	OMIM:617053
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia	OMIM:313200
Congenital Disorder Of Glycosylation, Type Iia	Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L...	OMIM:212066
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Overfriendliness, Hyperactivity, Restlessness, Ataxia, Aggressive behavior, Agitation, Low-set ea...	ORPHA:369891
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Myocardial infarction, Lymphedema, External ear malformation, High urinary...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Myocardial infarction, Lymphedema, External ear malformation, High urinary...	ORPHA:99228
Monosomy X	Prolonged QT interval, Myocardial infarction, Lymphedema, External ear malformation, High urinary...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Myocardial infarction, Lymphedema, External ear malformation, High urinary...	ORPHA:881
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms, U...	ORPHA:530983
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Chronic diarrhea, Neutropenia, Hy...	OMIM:557000
Pituitary Adenoma 4, Acth-Secreting	Edema, Pituitary adenoma, Increased circulating ACTH level, Hypertension, Hypokalemia	OMIM:219090
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Edema, Optic atrophy, Congenital hypothyr...	OMIM:617527
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Generalized joint laxity, Dysmetria, Depr...	ORPHA:502423
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Gastroesophageal reflux, Compulsive behaviors, Ab...	OMIM:610253
Developmental And Epileptic Encephalopathy 103	EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Spastic tet...	OMIM:619913
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia, Impaired pain sensation, Optic atroph...	ORPHA:1764
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Unsteady gait, Mental deterioration, Gait ataxia, Normochromic anemia, Hypoalbum...	OMIM:254900
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Edema of the dorsum of feet, Ede...	ORPHA:521426
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Frequen...	OMIM:619103
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G...	OMIM:615530
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Macrotia, Optic atrophy	OMIM:617281
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Ataxia, Posteriorly rotated ears, Decreased response to growth hormone stimulation...	OMIM:601853
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Diarrhea, Hypovolemia, Hyperkalemia, Increased circulating...	ORPHA:427
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Decreased response to growth hormone...	ORPHA:363528
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Impulsivity, Uplifted earlobe	OMIM:300143
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Prominent antihelix, Inappropriate laughter, Pulmonic stenosis, Macrotia, Abnor...	OMIM:615802
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Dehydration, Leukopenia, Vomiting, Thrombocytopenia	OMIM:243500
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facial diplegia...	OMIM:619121
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti...	ORPHA:468678
16P11.2P12.2 Microdeletion Syndrome	Hyperactivity, Tricuspid regurgitation, Abnormal pinna morphology, Impaired pain sensation, Tics,...	ORPHA:261211
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Gastroparesis, Congenital sensorineural hearing impairment, Fusion of m...	OMIM:157800
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Depression, Opisthotonus, Myoclonic spasms, Frequent fall...	OMIM:184850
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Hyponatremia, Ataxia, Cerebral atrophy, Hypokalemia, Vomiting, Gastroesophage...	OMIM:618426
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ...	ORPHA:49041
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Palpebral edema, Ag...	OMIM:614756
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al...	OMIM:613095
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Bone-marrow foam...	ORPHA:275761
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Optic atrophy, Self-injurious behavior, Mitral regurgitation, Gastroesophage...	ORPHA:313892
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Chronic constipation, Compulsive behavio...	ORPHA:476126
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Chronic constipation, Gait disturbance, Gas...	OMIM:300986
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Pitt-Hopkins Syndrome	Cupped ear, Gait ataxia, Self-injurious behavior, Gastroesophageal reflux, Constipation, Thickene...	OMIM:610954
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Overf...	OMIM:617330
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619790
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hyponatremia, Portal hypertension, Hypersplenism, Splenomegaly, Hepa...	ORPHA:731
Chromosome Xq13 Duplication Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Autoimmune thrombocytopenia, Chroni...	OMIM:301069
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Progressive language deterioration, ...	OMIM:610042
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tremor, I...	OMIM:218000
Developmental And Epileptic Encephalopathy 46	Tremor, Hypsarrhythmia, Dysphagia, Failure to thrive, Limb hypertonia	OMIM:617162
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Arthritis, Bilateral sensorine...	ORPHA:397744
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Tachycardia, Decreased response to growth hormone stimulation test, L...	ORPHA:485405
Congenital Sialidosis Type 2	Abnormal EKG, Ataxia, Edema, Optic atrophy, Dysmetria, Telangiectasia, Hepatosplenomegaly, Low-se...	ORPHA:93400
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir...	ORPHA:713
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Dystonia	ORPHA:438216
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Vertigo, Congestive...	ORPHA:1344
Niemann-Pick Disease Type C	Bone-marrow foam cells, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal ...	ORPHA:646
Mccune-Albright Syndrome	Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious pube...	ORPHA:562
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Tics, Vomiting, Otitis media, Compulsive behaviors, Abnormal repetitive mannerism...	OMIM:619475
Simpson-Golabi-Behmel Syndrome	Low-set, posteriorly rotated ears, Bundle branch block, Prolonged QT interval, Polyhydramnios, Sp...	ORPHA:373
Sandhoff Disease	Exaggerated startle response, Orthostatic hypotension, Ataxia, Impaired temperature sensation, Pr...	OMIM:268800
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hyperactivity, External ear malformation, Precocious puberty, Sensorineural...	ORPHA:254346
Pettigrew Syndrome	Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Gait ataxia, Choreoathetosi...	OMIM:304340
19P13.3 Microduplication Syndrome	Hyperactivity, Posteriorly rotated ears, Precocious puberty, Cerebral atrophy, Self-injurious beh...	ORPHA:447980
Tonne-Kalscheuer Syndrome	Broad-based gait, Congenital diaphragmatic hernia, Aggressive behavior, Tremor, Self-injurious be...	OMIM:300978
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas...	OMIM:604250
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Ataxia, Hypovolemia, Dehydration, Reduced pancreati...	ORPHA:99885
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Gm1 Gangliosidosis	Tremor, Decerebrate rigidity, Ataxia, Hepatosplenomegaly, Gait disturbance, Low-set ears, Cogniti...	ORPHA:354
Saethre-Chotzen Syndrome	Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop...	ORPHA:794
Sialidosis Type 1	Ataxia, Tremor, Splenomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairme...	ORPHA:812
Enteric Anendocrinosis	Portal hypertension, Diarrhea, Dehydration, Vomiting, Type I diabetes mellitus	ORPHA:83620
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Mental deteriorat...	ORPHA:79095
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria	OMIM:615578
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod...	OMIM:617865
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp...	ORPHA:73224
45,X/46,Xy Mixed Gonadal Dysgenesis	Low-set, posteriorly rotated ears, Prolonged QT interval, Tachycardia, Streak ovary, Increased ci...	ORPHA:1772
Fg Syndrome 3	Hyperactivity, Chronic constipation, Sensorineural hearing impairment	OMIM:300406
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Chorea, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder,...	OMIM:617600
Sandifer Syndrome	Abnormal head movements, Torticollis, Hiatus hernia, Abnormal posturing, Anemia	ORPHA:71272
Kleefstra Syndrome	Bowel incontinence, Aggressive behavior, Chronic otitis media, Self-mutilation, Self-injurious be...	ORPHA:261494
9P13 Microdeletion Syndrome	Abnormality of cartilage of external ear, Precocious puberty, Hand tremor, Low-set ears, Bruxism,...	ORPHA:324313
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Involuntary movements, Increased theta frequency activity in EEG, Depression...	ORPHA:98784
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Aganglionic megacolon, Hyperhidrosis	ORPHA:2151
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Hyperkalemia, Abnormal ci...	OMIM:614736
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangiectasia, Attent...	OMIM:620141
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Failure to thrive	OMIM:618201
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysphagia, Dysdia...	OMIM:614381
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Abnormal repetitive mannerisms, Anemia, Neutropenia	OMIM:618067
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Pre...	ORPHA:73272
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop...	OMIM:618986
Bainbridge-Ropers Syndrome	Posteriorly rotated ears, Polyhydramnios, Precocious puberty, Inability to walk, Self-injurious b...	OMIM:615485
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hearing impairment, Opt...	OMIM:222300
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Aggressive behavior, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Hearin...	OMIM:252920
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hemipar...	ORPHA:444463
Congenital Disorder Of Glycosylation, Type Iic	Cellulitis, Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility	OMIM:266265
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga...	ORPHA:96121
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Ataxia-Telangiectasia	Failure to thrive, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inabilit...	OMIM:208900
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu...	OMIM:616586
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Ataxia, Abnormal eat...	ORPHA:209905
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Incoordination, Elevated circulating creatinine concentration, Increased...	OMIM:223900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Cerebellar atrophy, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, ...	ORPHA:369837
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Reduc...	OMIM:301040
Tetanus	Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, H...	ORPHA:3299
Liver Disease, Severe Congenital	Chronic gastritis, Abnormal left ventricular function, Leukopenia, Vomiting, Hypocalcemia, Lympho...	OMIM:619991
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Hyposegmentation of neutrop...	OMIM:620075
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Hypoalbum...	OMIM:277900
Intellectual Developmental Disorder, Autosomal Dominant 22	Abnormal pinna morphology, Gastroesophageal reflux, Low-set ears, Bruxism, Stereotypical hand wri...	OMIM:612337
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Sensorineural hearing impairment, Head-banging, Hematochezia, Self-injurious behavior, Chronic co...	OMIM:619575
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Hypertonia, Lethargy, At...	ORPHA:254892
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti...	ORPHA:199296
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas...	OMIM:620330
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxism, Rec...	OMIM:617903
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Intellectual Developmental Disorder, Autosomal Dominant 1	Ataxia, Aggressive behavior, Cupped ear, Protruding ear, Self-injurious behavior, Microtia, Gastr...	OMIM:156200
Angelman Syndrome	Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Precocious puberty in females, Aggres...	ORPHA:72
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Vomiting, Oligohydramnios	OMIM:615824
Perry Syndrome	Parkinsonism, Tremor, Weight loss, Depression, Dementia, Abnormality of extrapyramidal motor func...	ORPHA:178509
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Splenomegaly, Emotional lability, Irritability, Decreased serum zinc, Lethargy, F...	OMIM:201100
Arthrogryposis, Distal, Type 2A	Hip contracture, Inguinal hernia, Flexion contracture of finger, Failure to thrive, Shoulder flex...	OMIM:193700
X-Linked Intellectual Disability, Cantagrel Type	Gastroesophageal reflux, Abnormal repetitive mannerisms, Cerebral cortical atrophy	ORPHA:85277
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Flexion contracture, Dementia, Decreased body weight, Hearing impairment	OMIM:278760
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Dehydration, Vomiting, Hy...	OMIM:251110
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Optic disc pallor, Polyhydramnios, Protruding ear, Posterior pituitary hypo...	ORPHA:464311
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Impaired pain sensation, Limitation of joint mobility, Arthritis, Lymphopenia	ORPHA:2582
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal...	OMIM:216400
2Q37 Microdeletion Syndrome	Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	ORPHA:1001
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Large for gestational age, Tremor, Abnormal circulating fat...	ORPHA:263455
Renal Hypoplasia, Bilateral	Hyponatremia, Edema, Hyperkalemia, Hypertension, Anemia, Oligohydramnios	ORPHA:97362
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Pediatric-Onset Graves Disease	Hyperactivity, Craniosynostosis, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil ...	ORPHA:525731
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Hearing impairment, Tremor, Sensorineural hearing impairment, Abnormal pyramid...	OMIM:105210
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Reduced bone mineral density, Tip-toe gait, Gait distu...	ORPHA:83629
Asparagine Synthetase Deficiency	Exaggerated startle response, Failure to thrive, Clonus, Optic nerve hypoplasia, Tremor, Simple e...	OMIM:615574
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi...	ORPHA:2306
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho...	ORPHA:249
Congenital Disorder Of Glycosylation, Type Ij	Aggressive behavior, Tremor, Flexion contracture, Hypsarrhythmia, Hypertonia, Hypoproteinemia	OMIM:608093
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Angelman Syndrome	Broad-based gait, Hyperactivity, Ataxia, Limb tremor, Obesity, Clumsiness, EEG abnormality, Progr...	OMIM:105830
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Protruding ear, Hypsarrhythmia, Hyper...	ORPHA:447997
Congenital Short Bowel Syndrome	Projectile vomiting, Chronic diarrhea, Dehydration, Vomiting, Steatorrhea	OMIM:615237
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Proximal Renal Tubular Acidosis	Diarrhea, Hypovolemia, Bicarbonaturia, Dehydration, Hypokalemia, Vomiting, Polydipsia	ORPHA:47159
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, Leu...	ORPHA:36238
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea...	OMIM:300539
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia, Tremor, Microtia, Attention deficit hyperactivity disorder, Comp...	ORPHA:370079
Metachromatic Leukodystrophy	Incoordination, Ataxia, Hearing impairment, Tremor, Decreased nerve conduction velocity, Tip-toe ...	ORPHA:512
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Hearing impairment	OMIM:252900
Methylmalonyl-Coa Epimerase Deficiency	Gastroesophageal reflux, Elevated circulating palmitoleylcarnitine concentration, Dehydration, Hy...	OMIM:251120
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Failure to thrive, Confusion, Megaloblastic anemia, Tr...	OMIM:277400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Brain atrophy, Cerebral cortical atroph...	OMIM:620327
Mucopolysaccharidosis Type 2	Otosclerosis, Papilledema, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve condu...	ORPHA:580
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Abnormal earlobe morphology, Hyperh...	ORPHA:85293
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Hyperactivity, Anterior pituitary hypoplasia, Protruding...	ORPHA:464306
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope...	OMIM:214500
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked ...	OMIM:133540
46,Xy Sex Reversal 4	Distal symphalangism, Sensorineural hearing impairment, Elevated circulating creatinine concentra...	OMIM:154230
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Diabetes mellitus, Acute colitis, Edema, Nausea, Myocarditis, Leu...	ORPHA:544482
Alexander Disease	Osteopenia, Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, D...	ORPHA:58
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Diffuse cerebral atrophy, Hydrops fetalis, Hepatosplenomegaly, Card...	ORPHA:79255
Stankiewicz-Isidor Syndrome	Hyperactivity, Pineal cyst, Abnormal optic disc morphology, Low-set ears, Hearing impairment	OMIM:617516
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Optic atrophy, Dysmetria, Knee flexion contracture, Dysphagia, Dystonia,...	OMIM:619708
Okur-Chung Neurodevelopmental Syndrome	Ataxia, Polyhydramnios, Cupped ear, Constipation, Low-set ears, Attention deficit hyperactivity d...	OMIM:617062
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le...	ORPHA:247353
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Broad-based gait, Ataxia, Inguinal hernia, Sensorineura...	OMIM:616541
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Inability to walk, Chorea, Righ...	ORPHA:268
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Joint stiffness, Tremor, Inability to walk, Optic atro...	OMIM:617988
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor	OMIM:609153
Niemann-Pick Disease, Type C2	Ataxia, Bone-marrow foam cells, Splenomegaly, Dysphagia, Dementia, Sea-blue histiocytosis, Dyston...	OMIM:607625
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Hemorrhagic Fever-Renal Syndrome	Hyperhidrosis, Intracranial hemorrhage, Vomiting, Internal hemorrhage, Nausea, Leukocytosis, Elev...	ORPHA:340
Reni Syndrome	Hypertriglyceridemia, Ataxia, Sensorineural hearing impairment, Hypoalbuminemia, Mental deteriora...	OMIM:617575
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Conductive hearing impairment...	ORPHA:443811
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Poor coordination, Depressio...	OMIM:620242
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Pineal cys...	ORPHA:513456
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Dysphagia, Hearing impairment	OMIM:252930
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Orthostatic Hypotension 1	Hypomagnesemia, Orthostatic hypotension, Joint hypermobility, Increased blood urea nitrogen	OMIM:223360
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Hyperhid...	ORPHA:33543
Congenital Tufting Enteropathy	Optic disc coloboma, Secretory diarrhea, Chronic diarrhea, Dehydration, Vomiting, Steatorrhea	ORPHA:92050
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Tremor, Osteoporosis, Abnormal pyramidal sign, Optic atrophy, Increased susce...	OMIM:612199
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Restlessness, Hyperactivity, Aggressive behavior, Splenomegaly, Diarrhea, Dys...	OMIM:252940
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto...	OMIM:616959
Juvenile Polyposis Syndrome	Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Tongue thrusting, Anemia, Self-injurious behavior, Microtia, Stereotypical body ro...	ORPHA:261323
Eisenmenger Syndrome	Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem...	ORPHA:97214
Unilateral Polymicrogyria	Epistaxis, Pseudobulbar paralysis, Infantile sensorineural hearing impairment, Abnormal posturing...	ORPHA:268943
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Rigidity, Splenomegaly, Truncal ataxia, Bradykines...	ORPHA:309854
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Involuntary movements, Optic nerve hypoplasia, Dysphagia, Spasticity, Abnormal repetitive mannerisms	ORPHA:572013
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Increa...	ORPHA:355
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Decreased serum insulin-like growth factor 1, Sensorineural hearing impairment, El...	OMIM:608747
Insulinoma	Tremor, Increased body weight, Transient global amnesia, Paresthesia, Abnormality of pain sensati...	ORPHA:97279
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia	OMIM:141000
Mucopolysaccharidosis Type 3	Atrioventricular block, Otitis media, Thickened helices, Conductive hearing impairment, Loss of a...	ORPHA:581
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Dysphagia, Athetosis, Diffic...	ORPHA:572798
Supranuclear Palsy, Progressive, 1	Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia...	OMIM:601104
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-...	ORPHA:85443
Trisomy 10P	Posteriorly rotated ears, Poor motor coordination, Abnormal auditory evoked potentials, EEG with ...	ORPHA:171929
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia, Vomiting, Dehydration	OMIM:615453
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Impaired vibrat...	ORPHA:447753
Wiedemann-Steiner Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Gastro...	ORPHA:319182
Serotonin Syndrome	Restlessness, Clonus, Confusion, Tremor, Rigidity, Mental deterioration, Irritability, Hypertonia...	ORPHA:43116
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Ataxia, Elevated circulating creatine kinase concentration, Tremor...	OMIM:615356
Immunodeficiency 23	Hemolytic anemia, Somatic sensory dysfunction, Failure to thrive, Ataxia, Eosinophilia, Abscess, ...	OMIM:615816
Developmental And Epileptic Encephalopathy 4	Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor...	OMIM:612164
Ogden Syndrome	Maternal diabetes, Lymphedema, Ventricular tachycardia, Protruding ear, Iron deficiency anemia, V...	OMIM:300855
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysphagia, Athetosis, D...	ORPHA:25
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Heart murmur, Difficulty walking, Low-set ears, Overfolded helix, Abnormal repetitive mannerisms,...	OMIM:618653
Paternal Uniparental Disomy Of Chromosome 6	Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Abnormal earlobe morphology, De...	ORPHA:96191
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:300376
Castleman Disease	Myelofibrosis, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Weight lo...	ORPHA:160
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Typhoid	Ataxia, Tremor, Splenomegaly, Hypertonia, Lethargy	ORPHA:99745
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Osteopetrosis, Autosomal Recessive 9	Papilledema, Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, An...	OMIM:620366
Cryptogenic Organizing Pneumonia	Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Weig...	ORPHA:1302
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in...	OMIM:619512
Norrie Disease	Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal coch...	ORPHA:649
47,Xyy Syndrome	Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Low-set ears, Increased ser...	ORPHA:8
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response, Hypertonia	ORPHA:163985
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat...	ORPHA:522077
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ...	ORPHA:90790
Nmda Receptor Encephalitis	Chorea, Opisthotonus, Choreoathetosis, Abnormal repetitive mannerisms, Delirium, Confusion, Hyper...	ORPHA:217253
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma...	ORPHA:90024
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Migraine, Familial Hemiplegic, 2	Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Broad-based gait, Posteriorly rotated ears, Underdeveloped superi...	ORPHA:369950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait...	ORPHA:466768
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc...	OMIM:615688
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Impaired pain sensation, Increased nuchal translucency, Gastroesophageal reflux, Abnormal autonom...	ORPHA:453499
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Impaired temperature sensation, Painless fractures due to injury, Self-mutilation, Ort...	ORPHA:642
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai...	ORPHA:97287
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Abnormal parathyroid morpholog...	ORPHA:99880
Cardiofaciocutaneous Syndrome 1	Posteriorly rotated ears, Polyhydramnios, Splenomegaly, Optic nerve dysplasia, Tongue thrusting, ...	OMIM:115150
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Gait imbalance, Inappropria...	ORPHA:411511
Microsporidiosis	Anorexia, Nausea, Myocarditis, Abnormality of the parathyroid gland, Abnormality of the spleen, C...	ORPHA:2552
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Arrhythmia, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Hypogonadotropic hypogonadism, Impulsivity, Cerebral atrophy, Protruding ear,...	OMIM:301030
Parathyroid Carcinoma	Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Abnormal parathyroid morpholog...	ORPHA:143
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Failure to thrive, Ataxia, Tremor, Abnormal subcutaneous fat tissue distribution, Fle...	OMIM:212065
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Somatostatinoma	Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Hypercalcemia, Elevated c...	ORPHA:97283
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walkin...	ORPHA:99845
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Thickened ears, Protrudi...	OMIM:300966
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Failure to thrive, Tre...	OMIM:615512
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis	OMIM:617186
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Hydrops fetalis, Abnormal ...	ORPHA:45452
Arboleda-Tham Syndrome	Dystonia, Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atroph...	OMIM:616268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Broad-based gait, Exaggerated startle response, Joint laxity, Invo...	ORPHA:438213
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Kinsship Syndrome	Bruxism, Chronic constipation, Gastroesophageal reflux, Brain atrophy, Low-set ears, Abnormal rep...	OMIM:619297
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, F...	OMIM:615873
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Ataxia, Polyhydramnios, Conjugated hyperbilirubinemia, Inability to walk, Splen...	OMIM:608885
Glucagonoma	Anorexia, Acanthocytosis, Increased circulating cortisol level, Adrenocortical adenoma, Constipat...	ORPHA:97280
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Posteriorly rotated ears, Aggressive behavior, Precocious puberty, Hepatosplenomegaly, Chronic co...	OMIM:301066
Renal Hypoplasia	Hypertension, Polydipsia, Dehydration	ORPHA:93101
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Vomiting, Dehydration	OMIM:602199
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia	OMIM:616744
Familial Renal Glucosuria	Elevated hemoglobin A1c, Abnormal circulating insulin concentration, Dehydration	ORPHA:69076
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Limb dystonia, Lingual dyst...	ORPHA:93958
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Pulmonary insufficienc...	OMIM:602088
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Dehydration, Hypophosphatemia, Hypokalemia, Decreased circulating c...	ORPHA:3337
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Atriovent...	OMIM:259900
Mend Syndrome	Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Limb hyper...	ORPHA:401973
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive ...	OMIM:612852
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia,...	ORPHA:468631
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Irritability, Progressive spastic quadriplegia, Hyperarg...	OMIM:207800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Se...	OMIM:235510
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Hypertonia, Dementia	OMIM:272800
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:309930
Legius Syndrome	Hyperactivity, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Xanthelasma, Vestibular s...	ORPHA:137605
Monosomy 22Q13.3	Hyperactivity, Palpebral edema, Lymphedema, Impaired pain sensation, Hair-pulling, Hypohidrosis, ...	ORPHA:48652
Gabriele-De Vries Syndrome	Waddling gait, Posteriorly rotated ears, Tremor, Tip-toe gait, Distal arthrogryposis, Attention d...	OMIM:617557
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing...	ORPHA:99956
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Decreased heart rate variability, Impaired pain sensation, Ch...	OMIM:619005
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia	OMIM:614618
Hyperekplexia 1	Exaggerated startle response, Inguinal hernia, Hypertonia, Myoclonus, Umbilical hernia, Frequent ...	OMIM:149400
Developmental And Epileptic Encephalopathy 100	Chorea, Cerebral atrophy, Gait ataxia, Choreoathetosis, Chronic constipation, Gastroesophageal re...	OMIM:619777
Joubert Syndrome 1	Optic disc pallor, Hyperactivity, Ataxia, Aggressive behavior, Optic disc coloboma, Low-set ears,...	OMIM:213300
Lujo Hemorrhagic Fever	Resting tremor, Stiff neck, Confusion, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:319213
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Glucose/Galactose Malabsorption	Chronic diarrhea, Hypertonic dehydration	OMIM:606824
Netherton Syndrome	Dehydration	ORPHA:634
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia	ORPHA:79330
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms, Bowel incontinence	ORPHA:168782
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia	ORPHA:757
Early Infantile Epileptic Encephalopathy	Hyperactivity, Failure to thrive, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathet...	ORPHA:1934
Schimke Immunoosseous Dysplasia	Waddling gait, Osteopenia, Pancytopenia, Small for gestational age, Abnormal T cell morphology, A...	OMIM:242900
Sandhoff Disease, Infantile Form	Exaggerated startle response, Myoclonus, Spasticity, Hepatosplenomegaly	ORPHA:309155
Ppoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Elevated circulating growth h...	ORPHA:97278
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia	OMIM:614619
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Inguinal hernia, Incoordination, Ataxia, Progressive neurologic deterioration,...	OMIM:614947
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Chronic diarrh...	ORPHA:330001
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Abnormality of the spleen, Sensorineural hearing impairment, D...	ORPHA:1606
Grfoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Elevated circulating growth h...	ORPHA:97261
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T cells, Inability...	ORPHA:508533
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Elevated circulating C-reactive protein concentration, Anorexia, ...	ORPHA:91500
Duane Retraction Syndrome	External ear malformation, Sensorineural hearing impairment, Blepharospasm, Stenosis of the exter...	ORPHA:233
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Cerebral atrophy, Protruding ...	OMIM:309590
Primrose Syndrome	Restlessness, Calcification of the auricular cartilage, Ataxia, Diabetes mellitus, Hypergonadotro...	OMIM:259050
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Acute le...	ORPHA:3226
Dietary Iron Overload Disease	Diabetes mellitus, Congestive heart failure, Abnormal thyroid morphology, Increased circulating f...	ORPHA:139507
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Ataxia, Small for gestational age, Tremor, Hyperammonemia, Umbilical hernia, Low...	OMIM:614052
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Friedreich Ataxia	Impaired vibratory sensation, Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, ...	OMIM:229300
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Transient ischemic attack, Vertigo, Aplasia/Hypoplasia of the earlobe...	ORPHA:286
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in...	ORPHA:353281
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections, ...	ORPHA:169160
Severe Generalized Junctional Epidermolysis Bullosa	Edema, Dilated cardiomyopathy, Abnormal blood ion concentration, Dehydration, Gastrointestinal in...	ORPHA:79404
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ataxia, Thickened helices, Impulsivity, Precocious puberty, Bruxism, Chronic constipation, Tip-to...	OMIM:619950
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap...	OMIM:618527
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Abnormal repetitive ...	OMIM:619325
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
O'Sullivan-Mcleod Syndrome	Tremor, Somatic sensory dysfunction, Eosinophilia, Fasciculations	ORPHA:99965
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili...	OMIM:617237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Flexion contracture, Optic atrophy, Elevated circulating creatine k...	OMIM:253800
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus...	ORPHA:97289
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr...	ORPHA:1578
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn...	OMIM:146500
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei...	OMIM:617099
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Facial palsy, Hearing impairment, Optic nerve hypoplasia, Abnormal optic di...	ORPHA:508498
Bangstad Syndrome	Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le...	ORPHA:1227
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Extrapyramidal muscular rigidity, Neonatal alloimmune t...	ORPHA:51
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Peripartum Cardiomyopathy	Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilated cardiomy...	ORPHA:563
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Vocal cord paralysis, Dysphagia, Hypsarrhythmia...	ORPHA:798
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra...	OMIM:201810
Microvillus Inclusion Disease	Diarrhea, Hypovolemia, Dehydration	ORPHA:2290
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Oculopharyngodistal Myopathy 1	Ataxia, Elevated circulating creatine kinase concentration, Facial palsy, Tremor, Sensorineural h...	OMIM:164310
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gastroparesis, Optic nerve hypoplasia, Impaired pain sensation, Inability to walk, Increased nuch...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gastroparesis, Optic nerve hypoplasia, Impaired pain sensation, Inability to walk, Increased nuch...	ORPHA:352665
Kallmann Syndrome	Ataxia, Recurrent fractures, Tremor, Sensorineural hearing impairment, Obesity, Paraplegia, Reduc...	ORPHA:478
Muscular Dystrophy, Duchenne Type	Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart...	OMIM:310200
Listeriosis	Brain abscess, Somatic sensory dysfunction, Liver abscess, Ataxia, Abscess, Stiff neck, Osteomyel...	ORPHA:533
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Ataxia, Scarring, Small for gestational age, Microcytic anemia, Leukocytosis, Impai...	ORPHA:99843
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Splenomegaly, Dehydration, Hypertension, Oligohydramnios	OMIM:263200
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia...	OMIM:617591
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi...	OMIM:619510
Floating-Harbor Syndrome	Restlessness, Broad-based gait, Impulsivity, Aggressive behavior, Precocious puberty, Cochlear ma...	ORPHA:2044
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Decrea...	ORPHA:79644
African Trypanosomiasis	Tremor, Impaired proprioception, Choreoathetosis, Vomiting, Nausea, Abnormal EKG, Papilledema, Ab...	ORPHA:3385
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Developmental And Epileptic Encephalopathy 2	Inability to walk, Hypsarrhythmia, Myoclonus, Abnormal repetitive mannerisms, EEG with generalize...	OMIM:300672
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Macrocytic anemia, Posteriorly rotated ears, Polysplenia, Low-set ears, Attention ...	OMIM:614294
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent...	OMIM:619522
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Primary Intestinal Lymphangiectasia	Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:90362
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Diarrhea, T lymphocytope...	OMIM:251260
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi...	ORPHA:177907
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Irritability, Hypertonia, Spasticity, Failure to ...	OMIM:616539
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Irritability, Hypertonia, Dysphagia, Spasticity, EEG with generaliz...	OMIM:618367
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Polyhydramnios, Cardiac conduction abnormality, Aggressive behavior, Abnormal fear...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Polyhydramnios, Cardiac conduction abnormality, Aggressive behavior, Abnormal fear...	ORPHA:353277
Treacher-Collins Syndrome	Blepharospasm, Microtia, Hypoplasia of the thymus, Abnormality of the adrenal glands, Conductive ...	ORPHA:861
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Tongue fasciculations	OMIM:608800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra...	OMIM:607485
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious be...	OMIM:612474
Ebola Hemorrhagic Fever	Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia	ORPHA:319218
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration	OMIM:614204
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms, Overfolded helix, Posteriorly rotated ears, Gastroesophageal reflux	OMIM:301044
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund...	ORPHA:75565
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Somatic sensory dysfunction, Neutrophilia, Eosinophilia, Confusion, Thrombocytopen...	ORPHA:3260
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Ventricular tachycardia, Hyperkalemia, Premature ventricula...	ORPHA:423
Dextrocardia	Abnormal EKG, Abnormality of the spleen, T-wave inversion, Aplasia/Hypoplasia of the ear	ORPHA:1666
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ...	OMIM:131100
Parkinson Disease 21	Tremor, Bradykinesia, Parkinsonism, Rigidity	OMIM:616361
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Anhidrosis, Ataxia, Aggressive behavior, Inability to walk, Bruxism, Chronic ...	OMIM:617799
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Khan-Khan-Katsanis Syndrome	Failure to thrive, Sensorineural hearing impairment, Corneal scarring, Dysphagia, Hypertonia, Neu...	OMIM:618460
Wolf-Hirschhorn Syndrome	Accessory spleen, Abnormal pinna morphology, Precocious puberty, Sensorineural hearing impairment...	OMIM:194190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Cushing Disease	Dorsocervical fat pad, Optic nerve compression, Fatiguable weakness of proximal limb muscles, Leu...	ORPHA:96253
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Clonus, Tremor, Sensorineural hearing impairment, Dysphagia, Hypertonia, Neutropenia, F...	OMIM:617248
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-...	ORPHA:424
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Hypocalcemia, Chronic otiti...	OMIM:619503
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Hypoca...	ORPHA:667
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Aganglionic megacolon, Reduced bone mineral density, Cognitive impairment, Lymph...	ORPHA:935
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Vomiting, Cerebral atrophy	OMIM:618252
Netherton Syndrome	Hypernatremic dehydration, Angioedema, Hypereosinophilia	OMIM:256500
Familial Atrial Fibrillation	Palpitations, Atrial fibrillation, Syncope, Myocardial infarction	ORPHA:334
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c...	OMIM:171400
Familial Gestational Hyperthyroidism	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-...	ORPHA:99819
Glucocorticoid Resistance, Generalized	Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s...	OMIM:615962
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutropenia, Ly...	ORPHA:508542
Neuroendocrine Neoplasm Of Appendix	Mechanical ileus, Tricuspid stenosis, Anorexia, Heart murmur, Adrenocorticotropic hormone excess,...	ORPHA:100079
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Cystic Fibrosis	Meconium ileus, Diarrhea, Ileus, Dehydration, Hepatosplenomegaly, Steatorrhea, Pancreatitis, Exoc...	OMIM:219700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Gabriele-De Vries Syndrome	Waddling gait, Posteriorly rotated ears, Small for gestational age, Craniosynostosis, Oral-pharyn...	ORPHA:506358
Whim Syndrome	Neutropenia, Abnormal neutrophil morphology, Limb ataxia, Poor fine motor coordination, Celluliti...	ORPHA:51636
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Goodpasture Syndrome	Weight loss, Anemia, Increased blood urea nitrogen	OMIM:233450
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cerebral hemorrhage, Precocious puberty, Encopresis, Unsteady gait, Gastroesophageal reflux, Cons...	OMIM:616682
Mowat-Wilson Syndrome	Broad-based gait, Posteriorly rotated ears, Ataxia, Uplifted earlobe, Impaired pain sensation, Ag...	ORPHA:2152
Primary Sjögren Syndrome	Normocytic anemia, Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Cho...	ORPHA:289390
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag...	OMIM:309000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai...	ORPHA:261537
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Stiff neck, Elevated circulating creatine kinase concentration, Anore...	ORPHA:99827
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity	OMIM:176500
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai...	ORPHA:261552
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor, Pituitary adenoma, R...	ORPHA:805
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular...	ORPHA:70591
Proteus Syndrome	Macrotia, Low-set ears, Narrow internal auditory canal	ORPHA:744
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Congestive heart failure, Pedal e...	ORPHA:980
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Friedreich Ataxia 2	Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertro...	OMIM:601992
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359

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 Kcne1

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 Kcne1.

No publications found that use IMPC mice or data for Kcne1.

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MGI Allele	Allele Type	Produced
Kcne1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Kcne1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Kcne1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Kcne1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Kcne1 MGI:96673

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Kcne1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data