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Gene: Myo6 MGI:104785

Gene Summary

Name:

myosin VI

Synonyms:

Tlc, rsv, Myo6^rsv

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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
decreased circulating amylase level	Myo6^Tlc	HET	Early adult	2.24×10^-08
abnormal startle reflex	Myo6^em1(IMPC)Tcp	HOM	Early adult	3.98×10^-16
increased circulating alkaline phosphatase level	Myo6^em1(IMPC)Tcp	HOM	Early adult	1.24×10^-11
abnormal auditory brainstem response	Myo6^em1(IMPC)Tcp	HOM	Early adult	1.23×10^-06
decreased total body fat amount	Myo6^em1(IMPC)Tcp	HOM	Early adult	5.07×10^-05
decreased anxiety-related response	Myo6^em1(IMPC)Tcp	HOM	Early adult	4.86×10^-12
increased heart weight	Myo6^em1(IMPC)Tcp	HOM	Early adult	4.54×10^-05
abnormal gait	Myo6^em1(IMPC)Tcp	HOM	Early adult	2.58×10^-11
decreased body length	Myo6^em1(IMPC)Tcp	HOM	Early adult	2.45×10^-12
increased vertical activity	Myo6^Tlc	HET	Early adult	7.74×10^-07
decreased bone mineral density	Myo6^em1(IMPC)Tcp	HOM	Early adult	6.91×10^-06
hyperactivity	Myo6^Tlc	HET	Early adult	2.77×10^-11
increased circulating phosphate level	Myo6^em1(IMPC)Tcp	HOM	Early adult	8.03×10^-05
decreased grip strength	Myo6^em1(IMPC)Tcp	HOM	Early adult	1.98×10^-07
increased mean corpuscular volume	Myo6^em1(IMPC)Tcp	HOM	Early adult	1.07×10^-06
abnormal sternum morphology	Myo6^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased startle reflex	Myo6^em1(IMPC)Tcp	HOM	Early adult	1.15×10^-05
abnormal uterus morphology	Myo6^em1(IMPC)Tcp	HOM	Early adult	0.00
head bobbing	Myo6^em1(IMPC)Tcp	HOM	Early adult	5.55×10^-19
prolonged RR interval	Myo6^em1(IMPC)Tcp	HOM	Early adult	8.41×10^-09
decreased body temperature	Myo6^Tlc	HET	Early adult	3.16×10^-08
decreased circulating triglyceride level	Myo6^Tlc	HET	Early adult	8.59×10^-07
hyperactivity	Myo6^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased circulating potassium level	Myo6^em1(IMPC)Tcp	HOM	Early adult	9.11×10^-05
tremors	Myo6^Tlc	HET	Early adult	1.24×10^-16
decreased bone mineral content	Myo6^em1(IMPC)Tcp	HOM	Early adult	3.44×10^-05
enlarged urinary bladder	Myo6^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased heart rate	Myo6^em1(IMPC)Tcp	HOM	Early adult	1.41×10^-07
decreased leukocyte cell number	Myo6^em1(IMPC)Tcp	HOM	Early adult	2.39×10^-05
increased lean body mass	Myo6^em1(IMPC)Tcp	HOM	Early adult	1.92×10^-05
decreased circulating glucose level	Myo6^Tlc	HET	Early adult	1.90×10^-05
abnormal stomach morphology	Myo6^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased prepulse inhibition	Myo6^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal behavior	Myo6^em1(IMPC)Tcp	HOM	Early adult	2.68×10^-16

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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

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

8 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Eye Morphology

Images Slit Lamp

9 Images

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Legacy Phenotype Associated Images

Myo6^sv
HET, Male, WTSI

Myo6^sv
body, HOM, Male, WTSI

Myo6^sv
HET, Female, WTSI

Myo6^sv
HOM, Female, WTSI

View all 165 images

Myo6^sv
abnormal hair follicle bulge morphology, HOM, Female, WTSI

Myo6^sv
tail skin, HET, Female, WTSI

Myo6^sv
abnormal hair cycle, HOM, Female, WTSI

Human diseases caused by Myo6 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 Myo6 (2 diseases)
Human diseases predicted to be associated with Myo6 (1766 diseases)

The table below shows human diseases associated to Myo6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Deafness, Autosomal Dominant 22		Progressive sensorineural hearing impairment, Sensorineural hearing impairment	OMIM:606346
Deafness, Autosomal Recessive 37		Abnormal vestibular function, Sensorineural hearing impairment	OMIM:607821

The table below shows human diseases predicted to be associated to Myo6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Auditory Neuropathy, Autosomal Dominant 3	Abnormal speech discrimination, Hearing impairment	OMIM:619832
Schizophrenia 15	Hyperactivity	OMIM:613950
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
Deafness, Autosomal Recessive 1B	Abnormal vestibular function, Hearing impairment	OMIM:612645
Deafness, Autosomal Recessive 84A	Abnormal vestibular function, Hearing impairment	OMIM:613391
Deafness, Aminoglycoside-Induced	Aminoglycoside-induced hearing loss	OMIM:580000
Deafness, Autosomal Dominant 17	High-frequency hearing impairment	OMIM:603622
Deafness, Autosomal Dominant 7	High-frequency hearing impairment	OMIM:601412
Deafness, Autosomal Dominant 2B	High-frequency hearing impairment	OMIM:612644
Deafness, Autosomal Recessive 91	Progressive hearing impairment	OMIM:613453
Deafness, Autosomal Recessive 102	Profound hearing impairment	OMIM:615974
Deafness, Autosomal Dominant 18	Progressive hearing impairment	OMIM:606012
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Deafness, Autosomal Recessive 33	Hearing impairment	OMIM:607239
Deafness, Autosomal Dominant 54	Hearing impairment	OMIM:615649
Deafness, Autosomal Dominant 52	Hearing impairment	OMIM:607683
Deafness, Autosomal Recessive 65	Hearing impairment	OMIM:610248
Deafness, Autosomal Recessive 86	Hearing impairment	OMIM:614617
Deafness, Autosomal Dominant 24	Hearing impairment	OMIM:606282
Deafness, Autosomal Recessive 6	Hearing impairment	OMIM:600971
Tune Deafness	Hearing impairment	OMIM:191200
Deafness, Autosomal Recessive 106	Hearing impairment	OMIM:617637
Deafness, Autosomal Recessive 107	Hearing impairment	OMIM:617639
Deafness, Autosomal Dominant 15	Hearing impairment	OMIM:602459
Deafness, Autosomal Dominant 89	Hearing impairment	OMIM:620284
Deafness, Autosomal Dominant 88	Hearing impairment	OMIM:620283
Deafness, Autosomal Dominant 51	Hearing impairment	OMIM:613558
Deafness, Autosomal Recessive 96	Hearing impairment	OMIM:614414
Deafness, Autosomal Recessive 93	Hearing impairment	OMIM:614899
Deafness, Autosomal Recessive 55	Hearing impairment	OMIM:609952
Deafness, Autosomal Recessive 47	Hearing impairment	OMIM:609946
Autism, Susceptibility To, X-Linked 4	Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Deafness, Autosomal Recessive 25	Progressive sensorineural hearing impairment, Hearing impairment	OMIM:613285
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,...	OMIM:616515
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
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
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder	OMIM:613003
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Deafness, Autosomal Recessive 30	Progressive sensorineural hearing impairment, Progressive hearing impairment	OMIM:607101
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language	Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior, Hearing impairment	OMIM:620038
Deafness, Autosomal Recessive 20	Sensorineural hearing impairment, Hearing impairment	OMIM:604060
Deafness, Autosomal Recessive 13	Sensorineural hearing impairment, Hearing impairment	OMIM:603098
Deafness, Autosomal Recessive 29	Sensorineural hearing impairment, Hearing impairment	OMIM:614035
Deafness, Autosomal Recessive 57	Sensorineural hearing impairment, Hearing impairment	OMIM:618003
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
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Deafness-Oligodontia Syndrome	Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment	ORPHA:3230
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Deafness, X-Linked 4	Sensorineural hearing impairment, High-frequency hearing impairment	OMIM:300066
Deafness, Autosomal Dominant 49	Sensorineural hearing impairment, Progressive hearing impairment	OMIM:608372
Deafness, Mid-Tone Neural	Sensorineural hearing impairment, Progressive hearing impairment	OMIM:124700
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Deafness, Autosomal Dominant 9	Vertigo, Postlingual sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve...	OMIM:601369
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Deafness, Autosomal Dominant 22	Progressive sensorineural hearing impairment, Sensorineural hearing impairment	OMIM:606346
Deafness, Autosomal Recessive 67	Sensorineural hearing impairment, Bilateral sensorineural hearing impairment	OMIM:610265
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:300495
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy, Sensorineural hearing impairment	OMIM:208750
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, EEG abnormality, Truncal ataxia, Abnormal repetitive manneri...	OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Usher Syndrome Type 1	Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop...	ORPHA:231169
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro...	ORPHA:95433
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity, Low-set ears	ORPHA:436151
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction	ORPHA:231183
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Dysphagia, Hand tremor, Gait ataxia, Atrophy/Degeneration a...	OMIM:617862
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Inability to ...	ORPHA:52368
Sandhoff Disease, Adult Form	Dystonia, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia...	ORPHA:309169
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Ataxia, Aggressive behavior, Chorea, EEG abnormality, Falls, Inappropriate laughter, Br...	OMIM:619150
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar...	OMIM:615924
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis...	OMIM:601382
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia	OMIM:617830
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Migraine, Familial Hemiplegic, 1	Fever, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe...	ORPHA:401901
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors	OMIM:159900
Developmental And Epileptic Encephalopathy 78	Cerebral palsy, Hypothermia, Inability to walk, Chorea, Spasticity	OMIM:618557
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ...	OMIM:619470
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Congestive heart failure, Recurrent infections of the midd...	ORPHA:217622
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms	OMIM:239500
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia...	OMIM:609425
Meniere Disease	Vertigo, Tinnitus, Hearing impairment	OMIM:156000
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment	OMIM:620270
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Depression, Abnor...	ORPHA:36913
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia	OMIM:615026
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Ataxia, Abnormal auditory evoked potentials, Anorexia	ORPHA:99852
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas...	ORPHA:216873
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Cardiomyopathy, Dilated, 1J	Sudden cardiac death, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiom...	OMIM:605362
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia, Ankle clonus, Spasticity	OMIM:616657
Autosomal Recessive Spastic Paraplegia Type 44	Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i...	ORPHA:320401
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy, Cerebral co...	OMIM:300983
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:608049
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Bruxism, Self-injurious behavior, EEG abnormality, Brain atrophy, Low-set ears, Ab...	OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations	OMIM:615048
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:616341
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy...	ORPHA:79299
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine...	OMIM:612716
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Hypothermia, Gait disturbance	ORPHA:29822
Deafness, Autosomal Dominant 50	Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari...	OMIM:613074
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia, Recur...	OMIM:261630
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase	OMIM:614369
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Brunner Syndrome	Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior	OMIM:300615
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca...	ORPHA:599373
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Tre...	ORPHA:94093
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Chorea, Self-injurious behavior, EEG abnormality, Dystonia, Stereotypical hand...	OMIM:618760
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral cortical atrophy, EEG abnormality	OMIM:617820
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Intention tremor	OMIM:617863
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Deafness, Autosomal Dominant 2A	Tinnitus, Hearing impairment	OMIM:600101
Deafness, Autosomal Dominant 58	Tinnitus, Hearing impairment	OMIM:615654
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Recurrent hand flapping, Posteriorly rotated ears, Low-set ears	OMIM:618147
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder	OMIM:617113
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav...	ORPHA:382
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha...	OMIM:618917
Deafness, Autosomal Recessive 37	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:607821
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi...	OMIM:301107
Pseudohypoparathyroidism Type 1A	Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetan...	ORPHA:79443
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior, Hearing impairment	OMIM:248510
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia, Torticollis	ORPHA:71518
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive...	OMIM:619690
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ...	OMIM:617021
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Pseudohypoparathyroidism Type 1C	Short metatarsal, Hypocalcemia, Hypocalcemic tetany, Broad distal phalanx of the thumb, Laryngeal...	ORPHA:79444
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br...	ORPHA:210571
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ...	ORPHA:276435
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil...	OMIM:616269
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia	OMIM:619651
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypothermia	OMIM:610006
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis, Increased bone mineral density, Cortical subperiosteal resorpt...	ORPHA:94089
Jeavons Syndrome	Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with...	ORPHA:139431
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,...	ORPHA:251282
Autosomal Dominant Hypocalcemia	Writer's cramp, Congestive heart failure, Optic atrophy, Hypercalciuria, Reduced bone mineral den...	ORPHA:428
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:612069
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Unsteady gait, Distal sensory impairment, Abnormal speech ...	OMIM:300614
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Syndactyly, Hemolytic-uremic syndrome, Osteop...	ORPHA:2169
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Obesity, Hyperphosphatemia, Hypogona...	OMIM:103580
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Cln3 Disease	Ataxia, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Depression, T-wave inversion,...	ORPHA:228346
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Macrotia, Stereotypical hand wringing	ORPHA:397933
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Optic atrophy, Dystonia, Hypertrophic cardiomyopathy, Hearing impairment	OMIM:618237
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Ventricular septal defect, Shor...	OMIM:612561
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Increased ur...	OMIM:239000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Osteoporosis, Short metatarsal, Obesity, Hyperphosphatemia, Hypogonadism, Hypoc...	OMIM:612462
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a...	ORPHA:275864
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Optic atrophy, Supraventricular arrhythmia	ORPHA:320360
Urocanase Deficiency	Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Attention deficit hyper...	OMIM:617182
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Hypertonia, Hypothermia, Dystonia	OMIM:614654
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Dysto...	OMIM:600795
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Cardiomyopathy	OMIM:610100
Fragile X Syndrome	Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recu...	OMIM:300624
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia	OMIM:128235
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici...	OMIM:606159
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,...	OMIM:302500
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal...	OMIM:617695
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ank...	ORPHA:521406
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Myoclonus	OMIM:605899
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Intermittent hypothermia, Oculogyric crisis, Tongue th...	OMIM:608643
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Patchy osteosclerosis, Cryptorchidism, Small hand, Short foot, Hyperpho...	OMIM:241410
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy, Sensorineural hearing impairment	OMIM:612989
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
7Q31 Microdeletion Syndrome	Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys...	ORPHA:251061
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing	OMIM:619561
Intellectual Developmental Disorder, Autosomal Recessive 73	Impulsivity, Recurrent hand flapping, Posteriorly rotated ears, Low-set ears	OMIM:619717
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Cerebral atrophy, Dysphagia...	OMIM:617435
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase, Dysphagia	OMIM:620265
Endocardial Fibroelastosis	Low-set, posteriorly rotated ears, Congestive heart failure, Cryptorchidism, Abnormal helix morph...	ORPHA:2022
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Generalized dystonia, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardi...	OMIM:618235
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick...	OMIM:614104
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Dystonia, A...	OMIM:618218
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Dystonia, Ventricular septal defect, Bradycardia, Brain atrophy, Atrophy/Degeneration affecting t...	OMIM:616277
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O...	OMIM:619028
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Hartnup Disorder	Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder	OMIM:234500
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Brain atrophy, Low-se...	OMIM:619092
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Clonus, Hypothermia, Rigidity, Babinski sign, Hypertonia, Myoclonic spasms, Limb hypertonia	OMIM:614498
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas...	ORPHA:811
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment	OMIM:614896
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Sensorineural hearing impairment, Ca...	ORPHA:93476
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v...	OMIM:601455
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short th...	OMIM:612562
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Congestive heart failure,...	OMIM:619048
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ...	OMIM:620021
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Developmental And Epileptic Encephalopathy 67	Hypsarrhythmia, EEG abnormality, Athetosis, Gait disturbance, Dystonia, Recurrent hand flapping	OMIM:618141
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa...	ORPHA:1215
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Intestinal obstruction, Abnormal dental e...	ORPHA:2323
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia...	ORPHA:363710
Sarcosinemia	Hypertrophic cardiomyopathy, Optic atrophy, Infantile sensorineural hearing impairment, Pulmonic ...	ORPHA:3129
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon...	ORPHA:94090
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, EEG abnorma...	OMIM:618815
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Hypertrophic cardiomyopathy, Central nervous system degenera...	ORPHA:868
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Microcephaly, Seizures, And Developmental Delay	Hyperactivity	OMIM:613402
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Spasticity, Ataxia, Hypoglycemia	OMIM:240800
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or...	ORPHA:454887
Hyperlysinemia, Type I	Hyperactivity	OMIM:238700
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation...	ORPHA:90117
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Cerebral atrophy, Choreoathetosis, Bruxism, Conductive hearing impairment, Ste...	OMIM:618497
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Bra...	OMIM:614702
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Tapered finger, Long fingers, Atrioventricular block, Truncal ataxia, Prominen...	OMIM:614407
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h...	ORPHA:35878
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Bi...	OMIM:616201
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy, Sensorineural hearing impairment	OMIM:615440
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 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ...	OMIM:620292
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
3-Methylglutaconic Aciduria Type 1	Progressive cerebellar ataxia, Hypoglycemia, Spastic tetraparesis, Dystonia	ORPHA:67046
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cardiomyopathy, Myofiber disarray, Hearing impairment	OMIM:301075
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Hand tremor, Tetraplegia, Gait disturbance, Fasciculations, Hyperglycemia, Mildly...	OMIM:604484
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Tetanus	Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Elevated urinary nor...	ORPHA:3299
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My...	OMIM:612736
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT...	OMIM:603233
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo...	OMIM:616276
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Christianson Syndrome	Cerebellar atrophy, Dysphagia, Gait ataxia, Inappropriate laughter, Neuronal loss in central nerv...	ORPHA:85278
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Sensorineural hearing impairment, Hepatomegaly	OMIM:610717
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Osteopenia, Tachycardia, Atrial fibrillation, Lipodystrophy, Elevated circ...	OMIM:613327
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia, Sensorineural hearing impairment	OMIM:609924
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Nephrocalc...	OMIM:611590
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Bruxism, Protruding ear, Br...	OMIM:618342
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms, Cerebral atrophy	OMIM:617393
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Optic atrophy, Cardiomyopathy, Dystonia, Hearing impairment	ORPHA:401768
Diabetes And Deafness, Maternally Inherited	Vertigo, Cardiomyopathy, Sensorineural hearing impairment, Abnormal vestibular function	OMIM:520000
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Small for gestational age, Hearing impairment, Unilateral renal ...	OMIM:101800
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Cryptorchidism, Compulsive behaviors, Low-set ears...	ORPHA:352490
Primary Erythromelalgia	Hypothermia	ORPHA:90026
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain...	OMIM:617916
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Hyperphenylalanin...	OMIM:233910
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to ...	ORPHA:500180
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Hsd10 Mitochondrial Disease	Sensorineural hearing impairment, Optic atrophy, Abnormal mitochondrial morphology, Choreoathetos...	OMIM:300438
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrophy, Sel...	OMIM:614254
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypocalcemia,...	OMIM:264700
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Dystonia, Pulmonary ...	OMIM:616299
Noonan Syndrome 11	Posteriorly rotated ears, Bilateral sensorineural hearing impairment, Low-set ears, Pulmonic sten...	OMIM:618499
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves	ORPHA:2382
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Rickets, Renal tubular dysf...	ORPHA:213
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia, Hyper...	OMIM:261640
Parkinson Disease 22, Autosomal Dominant	Restless legs, Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favora...	OMIM:616710
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib...	OMIM:241530
Deafness, Autosomal Dominant 36	Sensorineural hearing impairment, Tinnitus	OMIM:606705
Deafness, Autosomal Dominant 43	Sensorineural hearing impairment, Tinnitus	OMIM:608394
Deafness, Autosomal Dominant 33	Sensorineural hearing impairment, Tinnitus	OMIM:614211
Deafness, Autosomal Dominant 64	Sensorineural hearing impairment, Tinnitus	OMIM:614152
Deafness, Autosomal Dominant 67	Sensorineural hearing impairment, Tinnitus	OMIM:616340
Deafness, Autosomal Dominant 77	Sensorineural hearing impairment, Tinnitus	OMIM:618915
Deafness, Autosomal Dominant 72	Sensorineural hearing impairment, Tinnitus	OMIM:617606
Deafness, Autosomal Dominant 82	Sensorineural hearing impairment, Tinnitus	OMIM:619804
Deafness, Y-Linked 1	Sensorineural hearing impairment, Tinnitus	OMIM:400043
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Hyperglycinemia, Hypothermia, Hypertaurinemia	OMIM:245400
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy...	ORPHA:240103
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor...	OMIM:616689
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Macrotia, Abnormal repetitiv...	ORPHA:391307
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase...	OMIM:300946
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms	DECIPHER:45
Cln5 Disease	Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Tremor, Inability to w...	ORPHA:228360
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costochondral junc...	OMIM:600081
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Facial palsy, Action tremor, Optic atrophy, Cerebral atrophy, Cardiomyopathy,...	ORPHA:254886
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Bruxism	OMIM:300434
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insulin resistance,...	ORPHA:363400
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Optic atrophy, Dysphagia, Cerebral atrophy, Choreoathetosis, Bilateral sensorineural hear...	OMIM:619422
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem...	ORPHA:206443
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-...	ORPHA:64753
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Hearing impairment	ORPHA:67048
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Increase...	ORPHA:398063
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Cryptorchidism, D...	ORPHA:261250
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Occipital...	ORPHA:411986
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalizati...	ORPHA:3077
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas...	ORPHA:98870
Familial Isolated Dilated Cardiomyopathy	Sensorineural hearing impairment, Dilated cardiomyopathy	ORPHA:154
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:277440
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op...	ORPHA:1435
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thro...	OMIM:613839
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp...	OMIM:618387
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con...	ORPHA:231222
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Tremor, Hyperinsulinemia, Agitation, Fasting hypoglycemia, Hyperinsulinemi...	ORPHA:276608
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive...	ORPHA:248111
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, Optic atrophy, Dysmetria, ...	OMIM:617302
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia	ORPHA:94086
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, Corpus cal...	ORPHA:168491
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
D-Glyceric Aciduria	Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Nonketotic hyperglyci...	OMIM:220120
Spinocerebellar Ataxia 48	Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia	OMIM:618093
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Absent brainstem audito...	ORPHA:101085
Shukla-Vernon Syndrome	Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A...	OMIM:301029
Menkes Disease	Hypertonia, Babinski sign, Decreased circulating ceruloplasmin concentration, Hypothermia	OMIM:309400
Carnitine-Acylcarnitine Translocase Deficiency	Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglycem...	ORPHA:159
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy, Cerebral atrophy	OMIM:618855
Rapid-Onset Dystonia-Parkinsonism	Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Dysphagia, C...	ORPHA:71517
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Myoglobinuria, Ventricular tachycardia, Hyperkalemia, Cardi...	ORPHA:423
Muscle Filaminopathy	Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy, Abnormality of...	ORPHA:171445
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis	ORPHA:280062
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Depression, Cardiomyopathy, Progressive hearing impairment, Hypogonadism, Bradycardia, Gait distu...	OMIM:609286
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin...	ORPHA:3095
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti...	OMIM:601419
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment	ORPHA:457260
Huntington Disease-Like 3	Abnormal head movements, Caudate atrophy, Broad-based gait, Chorea, Progressive gait ataxia, Dyst...	ORPHA:157946
Infantile Refsum Disease	Hepatomegaly, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Cardiomyopathy, Arrh...	ORPHA:772
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Difficulty wal...	OMIM:159950
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso...	OMIM:301013
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem...	ORPHA:53351
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Sensorineural hearing impairme...	OMIM:249270
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov...	OMIM:619738
Landau-Kleffner Syndrome	Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive...	ORPHA:98818
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal epiphysis morphology, Br...	ORPHA:95717
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Cachexia, Malabsorption, Clubbing, Xerostomia, Hematochezia, Hamartomatous polyposis, H...	OMIM:175500
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Nephrolithiasis, Genu valgu...	ORPHA:93160
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Smith-Magenis Syndrome	Hyperactivity, Abnormality of the outer ear, Self hugging, Head-banging, EEG abnormality, Onychot...	OMIM:182290
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-bitin...	ORPHA:3306
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Elevated circulatin...	OMIM:212138
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi...	ORPHA:97214
Intellectual Developmental Disorder With Autism And Macrocephaly	Pica, Recurrent hand flapping, Posteriorly rotated ears	OMIM:615032
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Branchiootorenal Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:113650
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia	OMIM:617173
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, EEG with spike-wave comple...	OMIM:619317
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Sensorineural hearing impairment, Hypertension, Arrhythmia, Hypertrophi...	ORPHA:225
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Methylmalonic ac...	OMIM:277410
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus, Hypothermia	ORPHA:168593
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Femoral bowing, Tibial bowi...	ORPHA:289157
Urocanic Aciduria	Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax...	ORPHA:210128
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Vertigo, Optic atrophy, Telangiectasia, Hypertrophic ca...	ORPHA:79279
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag...	OMIM:127000
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Optic atrophy, Dystonia	ORPHA:26792
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog...	ORPHA:85447
Meningococcal Meningitis	Fever, Elevated circulating C-reactive protein concentration, Hypothermia, Anorexia	ORPHA:33475
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia	OMIM:313200
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv...	OMIM:617808
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Abnormal r...	OMIM:617807
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Spastic diplegia, Abnormality of circulatin...	ORPHA:3124
3-Hydroxy-3-Methylglutaric Aciduria	Fever, Nonketotic hypoglycemia, Ataxia, Anorexia, Spastic hemiparesis, Hypothermia, Hyperammonemi...	ORPHA:20
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Cerebral atrophy, Bilateral conductive hearing impairment, Interictal epilept...	OMIM:617802
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Distal Deletion 10Q	Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Unsteady gait, Cochlear...	ORPHA:96148
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy...	ORPHA:240094
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, D...	ORPHA:98764
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Obsessive-compulsive trait, ...	ORPHA:544254
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Sensorineural hearing impairment, Cardiomyopathy	ORPHA:3222
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio...	OMIM:612953
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Opisthotonus, Sensorineural hearing impairment	OMIM:616896
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor...	ORPHA:240085
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
East Syndrome	Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Sensorineur...	ORPHA:199343
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatomegaly, Anemia of inadequate production, High-output congesti...	ORPHA:231214
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk...	OMIM:600430
Coffin-Siris Syndrome 8	Hyperactivity, Aggressive behavior, Cryptorchidism, Cerebral atrophy, Self-injurious behavior	OMIM:618362
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Cdkl5-Deficiency Disorder	Multifocal epileptiform discharges, Inappropriate laughter, Stereotypical hand wringing, Bruxism	ORPHA:505652
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal thumb, Neutropen...	ORPHA:124
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Difficulty walking, Dystonia, Abnormal repetitive mannerisms, ...	ORPHA:280763
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Recurrent hand flapping, Inappropriate laughter, Cerebral cortical atrophy	OMIM:618859
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Optic atrophy, Brain atrophy	OMIM:618229
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Sensorineural hearing impairment, Macroglossia,...	ORPHA:95716
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Leg dystonia, Congenital ...	ORPHA:565624
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi...	ORPHA:397946
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Hypertrophic cardiomyopathy, Optic atrophy, Brain atrophy	OMIM:618236
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ...	ORPHA:101016
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Macrotia, Cerebral atrophy, Self-injurious behavior, EEG abnormality, Recurrent hand flapping	OMIM:617268
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Morm Syndrome	Hyperactivity, Aggressive behavior	ORPHA:75858
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Sensorineural hearing impairment, Dilated cardiomyopathy	OMIM:619688
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par...	OMIM:606693
Alexander Disease	Diabetes mellitus, Ataxia, Clonus, Hypothermia, Tremor, Chorea, Abnormal pyramidal sign, Tetraple...	ORPHA:58
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
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Intermediate Nemaline Myopathy	Cardiomyopathy, Facial diplegia, Facial palsy, Low-set ears	ORPHA:171433
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Hyperphosphaturia, Osteomalacia, Bowing of the legs, Increased circulating beta-C-...	ORPHA:157215
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Optic atrophy	OMIM:274270
Gne Myopathy	Cardiomyopathy, Facial palsy	ORPHA:602
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Hypothermia, Increased circulating free fatty...	ORPHA:26793
Huntington Disease-Like 1	Cerebellar atrophy, Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, Cerebr...	ORPHA:157941
Intellectual Developmental Disorder, Autosomal Dominant 51	Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated interests, Tics, Attentio...	OMIM:617788
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Self-injurious behavior, Bruxism, Macro...	OMIM:618004
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Gait ...	OMIM:615157
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment	OMIM:616351
Foxg1 Syndrome	Dystonia, Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Abnormal repetitive ma...	ORPHA:561854
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ...	OMIM:208920
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin...	OMIM:610883
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bud...	OMIM:127550
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals...	OMIM:619424
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Waddling gait, Hypercal...	OMIM:156400
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Limb myoclonus, Truncal ataxia, Limb ataxia, Dysmetria, Hand tremor, Tongu...	ORPHA:276198
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Anemia...	ORPHA:93325
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait	OMIM:600363
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Cardiomyopathy, Abnormal atrioventricular conduction, Hearing impairment	ORPHA:329336
Vestibulocochlear Dysfunction, Progressive	Vestibular areflexia, Tinnitus, Progressive hearing impairment	OMIM:193005
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Vertigo, Ventricular tachycardia, Ventricular septal hypertrophy, Left bund...	OMIM:608758
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms, Cerebral cortical atrophy	ORPHA:85277
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi...	OMIM:619827
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Posteriorly rotated ears, Abnormal mitochondrial morphology, Low-...	OMIM:618378
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Acute kidney injury, Ataxia, Elevated circulating creatine kinase concentr...	ORPHA:466650
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso...	ORPHA:313892
Cyclic Vomiting Syndrome	Cardiomyopathy, Hearing impairment	OMIM:500007
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Myoclonus, Difficulty wal...	ORPHA:2590
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur...	OMIM:617600
Alazami Syndrome	Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty...	ORPHA:319671
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, EEG abnormality, Low-set ears, Hypertrophic ...	ORPHA:544469
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,...	OMIM:617145
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300554
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal helix morphology, Pulmonic stenosis, ...	ORPHA:638
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys...	ORPHA:85451
Diamond-Blackfan Anemia 1	Reticulocytopenia, High palate, Triphalangeal thumb, Neutropenia, Atrial septal defect, Congenita...	OMIM:105650
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Macrotia, Cardiomegaly	OMIM:300886
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with...	ORPHA:397612
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Fever, Dystonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Par...	OMIM:607483
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulat...	OMIM:614307
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe	OMIM:300143
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio...	OMIM:618027
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Congenital hip dislocation, Epiphyseal dysplasia, Splenomeg...	OMIM:617913
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Hypothermia, Hypoalbuminemia, Hyperalaninemia, Spasticity	OMIM:618329
Congenital Myopathy 24	Cardiomyopathy, Facial palsy, First degree atrioventricular block	OMIM:617336
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Stomatocytosis...	OMIM:185000
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph...	ORPHA:208441
Infantile Neuronal Ceroid Lipofuscinosis	Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat...	ORPHA:79263
Isolated Thyroid-Stimulating Hormone Deficiency	Hypothermia, Clumsiness, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal...	ORPHA:90674
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Dystonia, Reduced haptoglobin level	OMIM:612126
Andersen Cardiodysrhythmic Periodic Paralysis	Short metatarsal, High palate, Short palm, Prominent U wave, Clinodactyly of the 5th finger, Shor...	OMIM:170390
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo...	ORPHA:369929
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Cardiomegaly, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral ...	ORPHA:391428
Lujo Hemorrhagic Fever	Shock, Resting tremor, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein c...	ORPHA:319213
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con...	ORPHA:90051
Glutamine Deficiency, Congenital	Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Low-set ears, Camptodactyly	OMIM:610015
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosi...	OMIM:620351
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,...	OMIM:617101
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Hypothermia, Insulin resistance, Elevated circulating creatinine concentration, Hyp...	ORPHA:230
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Hyperkinetic movements, Elev...	OMIM:271980
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxism, Rec...	OMIM:617903
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,...	OMIM:618430
Warsaw Breakage Syndrome	Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Hearing impairment	OMIM:613398
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ...	OMIM:620023
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Flexi...	ORPHA:682
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Brain atrophy, Limb tremor, Cerebral atrophy	OMIM:616647
Optic Atrophy-Intellectual Disability Syndrome	Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h...	ORPHA:401777
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Chorea, Low-set ears, Bruxism, Macrotia	OMIM:620149
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Tongue fasciculations, Hypothermia	OMIM:608800
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver...	OMIM:618347
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia	ORPHA:411515
Lamb-Shaffer Syndrome	Abnormal repetitive mannerisms, Hyperactivity, Optic atrophy, Abnormal temper tantrums	ORPHA:530983
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing...	OMIM:619260
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo...	OMIM:241520
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment	ORPHA:238750
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Recurrent otitis media, Hyperactivity, Brain atrophy, Aggressive behavior	OMIM:615286
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py...	ORPHA:240071
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity	OMIM:213200
Intellectual Developmental Disorder, Autosomal Recessive 61	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Unsteady gait, Dysmetria, Hypsarrhy...	OMIM:617773
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ...	ORPHA:40366
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe...	OMIM:616860
Gand Syndrome	Hyperactivity, Tics, Inappropriate laughter	OMIM:615074
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, L...	OMIM:123450
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r...	OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hea...	OMIM:617796
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morp...	ORPHA:226313
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa...	ORPHA:391417
Developmental And Epileptic Encephalopathy 87	Recurrent hand flapping, Cerebral atrophy, Hypsarrhythmia	OMIM:618916
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Self-injurious behavior, Polyphagi...	ORPHA:228402
Alpha-B Crystallin-Related Late-Onset Myopathy	Cardiomyopathy, Facial diplegia	ORPHA:399058
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Cryptorchidism, Bulimia, Anterior creases of earlobe, Hypsarrhythmia, Agitatio...	ORPHA:314389
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Hypertrophic cardiomyopathy, Cerebral cortical atrophy, EEG abnormality	ORPHA:3173
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Aggressive behavior, Agitation, Macrotia	OMIM:300558
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Small for gestational age, Elevated circulating creati...	OMIM:618775
Alg3-Cdg	Abnormal pinna morphology, Cardiomyopathy, Subcortical cerebral atrophy, Brain atrophy, Dystonia,...	ORPHA:79321
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy...	ORPHA:2701
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c...	OMIM:615673
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Dysphagia,...	OMIM:616795
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Cardiomegaly, Cardiom...	OMIM:300280
48,Xxyy Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, Attention deficit hyper...	ORPHA:10
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Dysphagia, A...	ORPHA:79264
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture...	OMIM:619377
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Hepatomegaly, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic...	ORPHA:254913
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Ectodermal Dysplasia-Syndactyly Syndrome 2	Macrotia, Cardiomegaly	OMIM:613576
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	EEG abnormality, Recurrent hand flapping, Pica, Low-set ears	OMIM:618480
Friedreich Ataxia	Decreased motor nerve conduction velocity, Optic atrophy, Cardiomyopathy, Dystonia, Intention tre...	ORPHA:95
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Leukopenia, Hypoalbumi...	ORPHA:99826
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment	OMIM:300958
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Opisthotonus, Gastroesophageal reflux, Third degree atrioventricular bloc...	OMIM:619814
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity...	ORPHA:98784
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Cardiomyopathy	ORPHA:63273
Rett Syndrome	Dystonia, Inability to walk, EEG abnormality, Gait disturbance, Agitation, Difficulty walking, Ab...	ORPHA:778
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment, Cardiomyopathy, Arrhythmia	OMIM:266500
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Inability to walk, Flexion contracture, Elbow flexion contracture, H...	ORPHA:70
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Dystonia, Ataxia, Hypothermia, Chorea, Low plasma citrulline, Gait ataxia, Hypertonia, Dys...	ORPHA:255210
Necrotizing Enterocolitis	Shock, Hyponatremia, Small for gestational age, Leukocytosis, Abnormal heart morphology, Bradycar...	ORPHA:391673
Myopathy, Myofibrillar, 3	Cardiomyopathy	OMIM:609200
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Attention deficit hypera...	ORPHA:391372
Gitelman Syndrome	Prolonged QT interval, Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Ventricular tachy...	OMIM:263800
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Increased fecal coproporphyrin 3, Ankle flexion contracture, Abnormal...	ORPHA:100924
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Sensorineural hearing impairment, Dilated cardiomyopathy, Hypertension,...	ORPHA:1349
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula...	OMIM:115250
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno...	ORPHA:1727
Intellectual Developmental Disorder, Autosomal Recessive 74	Hyperactivity	OMIM:617169
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso...	OMIM:610042
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypothermia, Hypoalbuminemia,...	OMIM:251880
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Optic atrophy, Cardiomyopathy	ORPHA:1177
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Attent...	OMIM:261600
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma...	ORPHA:2760
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Temperature instabil...	ORPHA:70594
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Athetosis, Hypertrophic cardiomyopathy, Optic atrophy	OMIM:618241
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait	OMIM:618493
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia	ORPHA:306669
Nipah Virus Disease	Tremor, Fever, Myoclonus, Anorexia	ORPHA:99825
Mercury Poisoning	Tachycardia, Anorexia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia, Acute kidney injury	ORPHA:330021
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements	OMIM:245348
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypoglycemia, Hypothermia, Aggressive behavior, Unsteady gait, Choreoathe...	ORPHA:17
Orthostatic Hypotension 1	Hypomagnesemia, Intermittent hypothermia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Senso...	OMIM:618652
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Corpus callosum atrophy, Tongue thrusting, Atrophy/Degeneration affecti...	ORPHA:77299
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Wolfram Syndrome 1	Tremor, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Cardiomyopathy, Testic...	OMIM:222300
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Behr Syndrome	Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive...	OMIM:210000
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Optic atrophy, Left ventricular noncompaction, Dystonia, Hypertrophic car...	OMIM:252011
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia	OMIM:266150
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Cryptorchidism, Ab...	ORPHA:500159
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Transketolase Deficiency	Secondary amenorrhea, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsi...	ORPHA:488618
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Pericardial effusion, Optic atrophy, Cardiomyopathy, Bilateral sensorineural ...	OMIM:620089
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance	ORPHA:101075
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal...	OMIM:618205
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner...	OMIM:618914
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemi...	ORPHA:89937
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Portal hypertension, Sho...	OMIM:609136
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619790
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di...	OMIM:302800
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy...	ORPHA:96
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Ataxia, Polyuria, Renal salt wasting, Sensorineural hearing impairment, Hypertensio...	OMIM:612780
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Otofaciocervical Syndrome 1	Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea	OMIM:166780
Majeed Syndrome	Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl...	OMIM:609628
Rasmussen Subacute Encephalitis	Hyperactivity, Inability to walk, Increased theta frequency activity in EEG, EEG with focal epile...	ORPHA:1929
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Optic atrophy, Choreoathetosis, Cardiomyopathy, Dystonia	ORPHA:79312
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Gait ataxia, Low-set ears, Brain atrophy, Abnormal repetitive mannerisms...	OMIM:616579
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Spasticity, Hypoglycemia, Hyperammonemia	ORPHA:6
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, High-frequenc...	OMIM:619743
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Spleno...	OMIM:239200
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Hypsarrhythmia, Continuous spike and waves during slow...	OMIM:619428
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease...	ORPHA:33543
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Hypokale...	ORPHA:251274
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Splenomegaly, Sensorineural hearing impairment, Cardiomyopathy	OMIM:256550
Naxos Disease	Sudden cardiac death, Congestive heart failure, Vertigo, Cardiomyopathy, Paroxysmal ventricular t...	ORPHA:34217
Mitochondrial Complex I Deficiency, Nuclear Type 37	Inguinal hernia, Hypospadias, Opisthotonus, High palate, Bradycardia, Pulmonary arterial hyperten...	OMIM:619272
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy...	OMIM:168605
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas...	ORPHA:90291
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Crouch gait	OMIM:620145
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Os...	OMIM:227810
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with...	ORPHA:363558
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys...	ORPHA:309246
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Bilateral sensorineural hearing impairmen...	OMIM:602722
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab...	ORPHA:99827
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Optic disc pallor, EEG with abnormally slow frequencies, Abnormality of patte...	ORPHA:1947
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Dysphagia,...	OMIM:300260
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Optic atrophy, Brain atrophy, Left ventricular hypertrophy, Hypertrophic cardi...	OMIM:618228
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Gastroesophageal reflux, Benign gastrointestinal...	ORPHA:562
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Cryptorchidism, Head-banging, Low-set ears, Attention deficit hyperactivity d...	OMIM:619103
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Gastroesophageal reflux, Bradycar...	ORPHA:542306
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Sensorineural hearing impairment	OMIM:614879
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para...	OMIM:300055
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Impulsivity, Pa...	OMIM:614298
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Impaired tandem gait, Ga...	OMIM:300623
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Protruding ear, Nephrocalcinosis, Oligosacchariduria, Aminoaciduria, Gastroesophag...	ORPHA:534
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Tremor, Sensorineural hearing impairment, Cardiomyopathy, Abnormal autonomic nervou...	OMIM:105210
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy, Sensorineural hearing impairment	OMIM:619046
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut...	ORPHA:281090
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Acute colitis, Anuria, Myocardial infarction, Intestinal perforati...	ORPHA:90038
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Tremor, Male hypogonadism, Hepatomegaly, Ataxia, Scarring, C...	ORPHA:90321
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Childhood Absence Epilepsy	Punding, Jerky head movements, Attention deficit hyperactivity disorder	ORPHA:64280
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Short metacarpal, Toe syndactyly, Hypophosphatemia	ORPHA:2611
Congenital Enterovirus Infection	Fever, Hypoalbuminemia, Hypothermia, Hyperammonemia	ORPHA:292
Intellectual Developmental Disorder, Autosomal Recessive 79	Tongue thrusting, Oligomenorrhea	OMIM:620393
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear...	OMIM:616393
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Athetosis, Second degree a...	OMIM:615474
Apert Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc...	ORPHA:87
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Spastic Paraplegia 29, Autosomal Dominant	Lower limb spasticity, Hyperactivity, Clonus, Spastic paraplegia, Babinski sign, Upper limb spast...	OMIM:609727
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia	ORPHA:572013
Aceruloplasminemia	Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Decreased circulating cop...	ORPHA:48818
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Optic atrophy, Hypsarrhythmia, Cardiomyopathy, Frontal cortical atrophy, Cereb...	OMIM:618437
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r...	OMIM:613174
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hearing impairment	OMIM:252920
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ...	ORPHA:66624
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Mitral valve p...	OMIM:258450
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Hyperactivity, Hypospadias, Sandal gap, Abnormal pinna morphology, Aggressive behav...	OMIM:300354
Oncogenic Osteomalacia	Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp...	ORPHA:352540
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea...	ORPHA:442835
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms	ORPHA:79155
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Iron deficiency anemia, Tubulointerstitial nep...	ORPHA:358
Adenylosuccinase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Gait...	OMIM:103050
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ...	OMIM:615745
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Cranial nerve compression, Odynophagia, Jaw claudication, Depression, ...	ORPHA:221098
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo...	OMIM:618877
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance	ORPHA:101078
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical body rock...	OMIM:300912
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolem...	ORPHA:31824
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Microtia	OMIM:212112
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Abnormal neuron morphology, Aggressive behavior, EEG with generalized polyspikes, ...	ORPHA:163681
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Cardiomyopathy, Facial palsy	OMIM:613155
X-Linked Adrenoleukodystrophy	Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Progressive hearing impairment, ...	ORPHA:43
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Hypertension, Glycosuria, Aminoaciduria...	OMIM:618913
Neuroferritinopathy	Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Ch...	ORPHA:157846
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti...	OMIM:619435
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ...	ORPHA:98794
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Testicular neoplasm, Peptic ulcer, Shortened QT interval, Ren...	ORPHA:143
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal pulmonary...	ORPHA:667
Vici Syndrome	Sensorineural hearing impairment, Optic atrophy, Cardiomyopathy, EEG abnormality, Cerebral cortic...	ORPHA:1493
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Facial diplegia, Attention deficit hyperactivity di...	OMIM:619121
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Increased mitochondrial number, ST segment elevation, Vertigo, Ventricul...	ORPHA:263297
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Multifocal epileptiform discharges, Cerebral atrophy, Cardiomyopathy	OMIM:608540
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Thin ribs, Bradycardia, Abnorma...	OMIM:617397
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos...	ORPHA:99879
Fg Syndrome 3	Hyperactivity, Cryptorchidism, Sensorineural hearing impairment	OMIM:300406
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Classic Phenylketonuria	Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder...	ORPHA:79254
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa...	OMIM:300894
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Hypoka...	OMIM:174900
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Combined Oxidative Phosphorylation Deficiency 57	Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Sensorineural hearing impairment, ...	OMIM:620167
Histidinemia	Hyperactivity	ORPHA:2157
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Proximal 16P11.2 Microdeletion Syndrome	Atrial septal defect, Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Congenital di...	ORPHA:261197
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Osteomalacia, Peptic ulcer, Parathormone-independent increase...	OMIM:600740
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t...	ORPHA:320406
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Large earlobe, Bruxism	OMIM:615716
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ...	OMIM:617061
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, EEG with burst suppression, Sensorineural hearing imp...	OMIM:617713
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Ket...	ORPHA:466677
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Congestive heart failure, Cryptorchidism, Abno...	ORPHA:1194
Pearson Syndrome	Renal cyst, Hypocalcemia, Neutropenia, Reticulocytosis, Hepatomegaly, Ataxia, Cardiomyopathy, Hyp...	ORPHA:699
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns...	ORPHA:1942
Ethylene Glycol Poisoning	Ataxia, Hypothermia, Hyperkalemia, Slurred speech, Addictive alcohol use, Hypocalcemia, Myoclonus	ORPHA:31826
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Hypertriglyceridemia, Hyperphosphaturia, Hepa...	ORPHA:2088
Mogs-Cdg	Absent brainstem auditory responses, Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment...	ORPHA:79330
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Tachycardia, Hypokalemia, Weight loss	OMIM:613239
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Large earlobe, Gait imbalance, Low-set ears, Dysphagia,...	OMIM:619312
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Hypercalcemia, Testicular neoplasm, Peptic ulcer, Shortened QT interval, Ren...	ORPHA:99880
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomegaly, Anis...	OMIM:618278
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Low-set ears	OMIM:616549
Microtriplication 11Q24.1	Attached earlobe, Posteriorly rotated ears, Bruxism, Hearing impairment	ORPHA:289522
Oculopharyngodistal Myopathy 3	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619473
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,...	ORPHA:439232
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab...	OMIM:619695
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Sensorineural hearing impairment, Optic atrophy, Undetectable visual evoked potentials, Dysphagia...	OMIM:601338
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Spastic tetraplegia, D...	OMIM:617710
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra...	OMIM:607485
Arthrogryposis, Distal, Type 2A	Knee flexion contracture, High palate, Hernia, Wrist flexion contracture, Neck joint contracture,...	OMIM:193700
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Loss of ambulatio...	OMIM:607694
Blepharophimosis-Impaired Intellectual Development Syndrome	Posteriorly rotated ears, Cryptorchidism, Attention deficit hyperactivity disorder, Low-set ears,...	OMIM:619293
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement	OMIM:611556
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Aganglionic megacolon, Chorea, Athetosis, Dystonia, Self-mutilation	ORPHA:52503
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal...	ORPHA:320
19P13.12 Microdeletion Syndrome	Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger, Atrial septal defect, ...	ORPHA:254346
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ...	OMIM:300352
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor...	ORPHA:2494
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Canavan Disease	Abnormality of visual evoked potentials, EEG abnormality, Optic atrophy, Hearing impairment	ORPHA:141
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar...	ORPHA:485421
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhythmia, Self-injurio...	ORPHA:457351
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Hyperactivity, Impulsivity, Optic atrophy, Abnormal autonomic nervous system ...	ORPHA:35069
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria...	OMIM:619573
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca...	OMIM:613388
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Precocious puberty, In...	ORPHA:845
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molec...	OMIM:219800
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
White-Sutton Syndrome	Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Abnormal re...	OMIM:616364
Distal Renal Tubular Acidosis	Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-mo...	ORPHA:18
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder	OMIM:619556
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass...	ORPHA:79102
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Microtia, Frontal cort...	OMIM:616977
Harel-Yoon Syndrome	Cerebellar atrophy, Hypertrophic cardiomyopathy, Optic atrophy, Dystonia	OMIM:617183
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Enlarged ovaries, Ventricular septal defect, Precocious pube...	ORPHA:769
Norrie Disease	Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel...	ORPHA:649
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating...	OMIM:179800
Krabbe Disease	Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel...	OMIM:245200
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Congestive heart failure, Cranial nerve compression, Abnormal moto...	ORPHA:52430
Mirage Syndrome	Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Microphallus, Achalasia, Hyponatrem...	OMIM:617053
Dent Disease	Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay...	ORPHA:1652
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Polydipsia, Tinnitus	ORPHA:403
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Increased urinary potassium, Hypertension, Hypokalemia, Palpitations, Polydipsia, Tinn...	ORPHA:231580
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Hypothermia, Hyperammonemia, Hyp...	ORPHA:79282
Developmental And Epileptic Encephalopathy 103	EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Hypsarrhyth...	OMIM:619913
Castleman Disease	Myelofibrosis, Abnormality of the gastrointestinal tract, Intestinal obstruction, Renal insuffici...	ORPHA:160
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
4H Leukodystrophy	Dystonia, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of ...	ORPHA:289494
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Compulsive behaviors, Abnormal re...	OMIM:610253
Cockayne Syndrome A	Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing,...	OMIM:216400
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Cardiomegaly, Congestive heart failure, Vertigo, Optic atrophy, Cardiomyopathy	OMIM:619259
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Cockayne Syndrome B	Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing,...	OMIM:133540
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Attention defi...	OMIM:618195
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc...	OMIM:137440
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib...	OMIM:612286
Vitamin B12-Unresponsive Methylmalonic Acidemia	Choreoathetosis, Cardiomyopathy, Optic atrophy, Hepatomegaly	ORPHA:27
Distal Xq28 Microduplication Syndrome	Impulsivity, Aggressive behavior, Self-biting, Microtia, Stereotypical body rocking, Attention de...	ORPHA:293939
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Gastric varix, Hepatocellular carcinoma	OMIM:613490
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Posteriorly rotated ears, Aganglionic megacolon, Ventricular septal defect, Tapered ...	OMIM:613870
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, H...	ORPHA:289176
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Hyperactivity, Decreased circulating cortisol level, Ataxia, Spastic tetra...	ORPHA:139396
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Myopathy, Distal, 4	Cardiomyopathy	OMIM:614065
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Hypothermia	ORPHA:226316
Leopard Syndrome 2	Hypertrophic cardiomyopathy, Low-set ears	OMIM:611554
Thrombocytopenia-Absent Radius Syndrome	Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotated ears, Finger...	ORPHA:3320
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo...	OMIM:614867
Combined Oxidative Phosphorylation Deficiency 41	Hearing impairment, Cardiomegaly	OMIM:618838
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Achlorhydria, Abnormal blood ion conce...	ORPHA:173
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hypokalemia, Palpitations, Weight loss	OMIM:188580
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Fever, Hypothermia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurio...	ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, EEG abnormality, Reduced left ventricular ejection fracti...	OMIM:614096
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620242
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Nail-biting, Tachycardia, Hyperactivity, Atrial septal defect, Tapered finger, Bil...	ORPHA:485405
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Congestive heart failure...	OMIM:235200
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor	OMIM:609541
Stankiewicz-Isidor Syndrome	Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment	OMIM:617516
Hypokalemic Periodic Paralysis	Fatigable weakness of respiratory muscles, Impaired myocardial contractility, Episodic hypokalemi...	ORPHA:681
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Hearing impairment	OMIM:618839
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia...	OMIM:610217
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Noonan Syndrome 8	Ventricular septal defect, Cryptorchidism, Mitral regurgitation, Pulmonic stenosis, Low-set ears,...	OMIM:615355
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Rett Syndrome, Congenital Variant	Tongue thrusting, Protruding ear, EEG abnormality, Bruxism, Abnormal repetitive mannerisms	OMIM:613454
13Q12.3 Microdeletion Syndrome	Hyperactivity, Impaired pain sensation, Chronic otitis media, Self-mutilation, Hearing impairment	ORPHA:412035
Distal Myopathy, Welander Type	Cardiomyopathy	ORPHA:603
Noonan Syndrome 6	Cryptorchidism, Sensorineural hearing impairment, Low-set ears, Pulmonic stenosis, Hypertrophic c...	OMIM:613224
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Glycosuria, Agitation, F...	ORPHA:263455
47,Xyy Syndrome	Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Low-s...	ORPHA:8
Myopathy, Myofibrillar, 6	Hypertrophic cardiomyopathy, Mitral regurgitation, Facial palsy, Restrictive cardiomyopathy	OMIM:612954
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dysph...	ORPHA:683
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ...	ORPHA:199351
Citrullinemia Type Ii	Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper...	ORPHA:247585
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Clumsiness, Poor fine motor...	ORPHA:137898
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi...	ORPHA:97279
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Gait disturbance	ORPHA:99014
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Limb dystonia, Lingual dyst...	ORPHA:93958
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Abnormal finger morphology, Abnormal femur morphology, Ata...	ORPHA:909
Peroxisomal Acyl-Coa Oxidase Deficiency	Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Low-set ears, Abnormality of vi...	ORPHA:2971
Microcephalic Primordial Dwarfism, Montreal Type	Low-set, posteriorly rotated ears, Lipoatrophy, Cryptorchidism, Congenital pyloric atresia, Reduc...	ORPHA:2617
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Dysphagia, Protruding ear, Hypsarrhythmia, Brain atrophy, Low-set ea...	ORPHA:447997
Metachromatic Leukodystrophy	Ataxia, Urinary incontinence, Hearing impairment, Abnormal stomach morphology, Tremor, Decreased ...	ORPHA:512
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Incomplete partition of the cochlea type II	OMIM:617660
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular...	ORPHA:411634
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitive mann...	OMIM:615802
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentra...	OMIM:613095
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Macr...	ORPHA:90673
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa...	OMIM:312080
Rett Syndrome	Gait apraxia, Bruxism, Truncal ataxia, Gait ataxia, Dystonia, Cerebral cortical atrophy, Stereoty...	OMIM:312750
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti...	OMIM:615656
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi...	ORPHA:231625
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Multicystic kidney dysplasia, Hydroureter, Dysuria, Abnormal fingertip morpho...	ORPHA:79404
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Spastic Tetraplegia And Axial Hypotonia, Progressive	Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears	OMIM:618598
Pediatric-Onset Graves Disease	Hepatomegaly, Hyperactivity, Atrial fibrillation, Craniosynostosis, Tremor, Splenomegaly, Congest...	ORPHA:525731
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Cardiomyopathy, Facial diplegia, Tremor	ORPHA:329478
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Fg Syndrome Type 1	Generalized joint laxity, High palate, Gastroesophageal reflux, Compulsive behaviors, Atrial sept...	ORPHA:93932
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Lo...	OMIM:620075
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti...	ORPHA:468678
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Spleno...	ORPHA:64743
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Impaired tac...	ORPHA:206448
Ogden Syndrome	Abnormal head movements, Torticollis, Inguinal hernia, Broad hallux, Ventricular septal defect, C...	ORPHA:276432
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Mepan Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Dysphagia, Abnormality of visual evoked pote...	ORPHA:508093
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Posteriorly rotated ears, Ataxia, Self-injurious behavior, Low-set ears	OMIM:601853
3P25.3 Microdeletion Syndrome	Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Attention deficit hyper...	ORPHA:435638
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy, Posteriorly rotated ears, Low-set ears	OMIM:611719
Developmental And Epileptic Encephalopathy 66	Cryptorchidism, Abnormal repetitive mannerisms	OMIM:618067
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Cystathioninuria	Cystathioninemia, Tremor	ORPHA:212
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Tremor, High palate, Short palm, Clinodactyly of the 5th finger, Hyperactivi...	ORPHA:85293
Mend Syndrome	Hyperactivity, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Aggressive beh...	ORPHA:401973
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Increased ur...	ORPHA:90793
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Stiff interphalangeal joints, Hepatomegaly, Hypogonadotropic hypogonadism, Portal h...	ORPHA:465508
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dystonia, Dysphagia	OMIM:304700
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature pubarche, Premature thelarche, Isosexual precocious puberty, Precocious puberty, Renal ...	ORPHA:90795
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:300986
Smith-Magenis Syndrome	Self-injurious behavior, EEG abnormality, Attention deficit hyperactivity disorder, Conductive he...	ORPHA:819
Megalocornea-Intellectual Disability Syndrome	EEG abnormality, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protruding ear	ORPHA:2479
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod...	OMIM:617865
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Azo...	OMIM:602390
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Pre...	ORPHA:73272
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Renal Tubular Acidosis Iii	Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino...	OMIM:267200
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Cardiomegaly, Inability to walk, Limitation of joint mobility,...	ORPHA:97297
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia, Short stepped ...	OMIM:168600
Lethal Acantholytic Erosive Disorder	Abnormal pinna morphology, Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Ca...	ORPHA:158687
Mucopolysaccharidosis Type 3	Cardiomegaly, Flexion contracture, Atrioventricular block, Reduced bone mineral density, Conducti...	ORPHA:581
Opsismodysplasia	Short metacarpal, Posteriorly rotated ears, Anterior rib cupping, Squared iliac bones, Hypoplasti...	OMIM:258480
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Dystonia, Failure to thrive in infancy, Renal insufficiency, Hype...	OMIM:617595
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Sensorineural hearing impairment	OMIM:608747
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy	OMIM:609500
Congenital Disorder Of Glycosylation, Type Iia	Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L...	OMIM:212066
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiom...	ORPHA:268
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Hypouricemia, Proteinuria, Large for gestational age, Rickets, N...	OMIM:616026
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypsarrhythmia, Bradycardia,...	OMIM:610768
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Dystonia, Cardiac arrest, Sensorineural hearing impairment, Ventricular tachycardia, Optic atroph...	OMIM:616878
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, ...	OMIM:620366
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis, Obesity, Nephrolithiasis, Hypertension, Hypokalemia, Abdominal obesity, Emotional l...	OMIM:219090
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials, EEG with burst suppression, Brain atrophy, Cerebral atrophy	OMIM:609304
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Thickened ribs, Hyperactivity, Joint stiffness, Heparan sulfate ex...	OMIM:252900
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Joint hypermobility, Im...	OMIM:261990
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Migraine, Familial Hemiplegic, 2	Fever, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Fever, Hypoglycemia, Recurrent fever	OMIM:201910
Corticosteroid-Binding Globulin Deficiency	Decreased urinary potassium, Hypertension, Hypokalemia, Hypotension, Anemia	OMIM:611489
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Attention deficit hyperacti...	OMIM:619151
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Mixed hearing impairment, Posteriorly r...	OMIM:259775
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Marbach-Schaaf Neurodevelopmental Syndrome	Posteriorly rotated ears, Aggressive behavior, Attention deficit hyperactivity disorder, Recurren...	OMIM:619680
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Limited hip extension, Ventricular septal defect, Flexion contracture, Retinal hemor...	OMIM:614653
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Childhood-Onset Nemaline Myopathy	Cardiomyopathy, Facial diplegia	ORPHA:171439
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, ...	OMIM:619167
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Sensorineural hearing impairment, Obesity, Normochromic an...	ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Hearing impairment	OMIM:618835
Intellectual Developmental Disorder, Autosomal Dominant 22	Stereotypical hand wringing, Abnormal pinna morphology, Low-set ears, Bruxism	OMIM:612337
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Third degree atrioventricular block, Sensorineural hearing impairment	OMIM:530000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:608099
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response	ORPHA:163985
Refsum Disease	Heart block, Cardiomyopathy, Sensorineural hearing impairment, Splenomegaly	ORPHA:773
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Atria...	ORPHA:2538
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Dystonia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprot...	OMIM:606002
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Cardiomyopathy, Cerebral cortical atrophy, Hearing impairment	OMIM:614922
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Malabsorption, Hypernatriuria, Enamel hypomineralization, Hypovolemia, Bicarbo...	ORPHA:47159
Usher Syndrome	Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia, Abnormal ca...	ORPHA:886
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation	OMIM:618056
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Dystonia, Bilateral cryptorchidism, Muscular ventricular septal defect, Di...	ORPHA:66634
Noonan Syndrome 5	Thickened helices, Cryptorchidism, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Low-set e...	OMIM:611553
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait,...	OMIM:168601
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Macrotia, EEG wi...	OMIM:617864
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine,...	OMIM:252930
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Low-s...	ORPHA:79255
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He...	ORPHA:308552
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Heart block, Cardiomyopathy, Abnormal left ventricular function	ORPHA:98912
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Myocarditis, Congestive heart failure, Splenomegaly, Cardiom...	ORPHA:3386
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Posteriorly rotated ears, Multifocal epileptiform discharges, Hypsarr...	OMIM:619229
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
2Q37 Microdeletion Syndrome	Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	ORPHA:1001
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Reduced bone mineral density, Sex reversal, Increased circulating renin level...	ORPHA:168558
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babins...	OMIM:234200
Tbck-Related Intellectual Disability Syndrome	Inability to walk, Abnormal circulating lipid concentration, Hypothermia	ORPHA:488632
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral ...	ORPHA:438213
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Polydipsia, Decreased circulating renin level	OMIM:613677
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen...	OMIM:601152
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Hearing impairment	OMIM:620114
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ...	OMIM:619575
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Incoordination, Ataxia, Elevated circulating creatine kinase concentration, Clonus, Involuntary m...	ORPHA:480864
Menkes Disease	Hypoglycemia, Hypothermia, Chorea, Hypertonia, Spasticity	ORPHA:565
Stiff-Person Syndrome	Exaggerated startle response, Tachycardia, Opisthotonus, Depression, Hypertension, Anemia	OMIM:184850
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Ataxia, Optic atrophy, Dysphagia, Macrotia, Abnormal repetitive mannerisms, C...	ORPHA:496641
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Reduced bone mineral density, Sex reversal, Increased circulating renin level...	ORPHA:289548
16P11.2P12.2 Microdeletion Syndrome	Hyperactivity, Abnormal pinna morphology, Impaired pain sensation, Tics, Low-set ears, Chronic ot...	ORPHA:261211
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Tremor, Sensorineural hearing impairment, Dysphagia, 3-Methylglutaric aciduria, 3-Methy...	OMIM:617248
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy...	OMIM:614381
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,...	OMIM:616586
Angelman Syndrome	Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inabilit...	ORPHA:72
Adrenocortical Carcinoma	Increased urinary cortisol level, Increased body weight, Weight loss, Hypertension, Hypokalemia, ...	ORPHA:1501
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir...	OMIM:241200
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Abnormal repetitive mannerisms	ORPHA:927
Apparent Mineralocorticoid Excess	Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating re...	OMIM:218030
Vipoma	Hepatomegaly, Hypercalcemia, Anorexia, Malabsorption, Weight loss, Hematochezia, Neoplasm of the ...	ORPHA:97282
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Abnormal cochlea morphology, Large e...	ORPHA:798
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Renal tubular dysfunction, Glycosur...	ORPHA:411629
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Optic nerve hypoplasia, Inability to walk, Sensorineural hearing impairment, Abno...	ORPHA:300570
Angelman Syndrome Due To A Point Mutation	Abnormal eating behavior, Tongue thrusting, EEG abnormality, Inappropriate laughter, Dysphagia, R...	ORPHA:411511
Hypophosphatemic Rickets And Hyperparathyroidism	Hypercalcemia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets, Rach...	OMIM:612089
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormality of visual evok...	ORPHA:1933
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Tsh-Secreting Pituitary Adenoma	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arrhythmia, Trem...	ORPHA:91347
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Loss of ...	ORPHA:2388
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Trisomy 10P	Thumb contracture, Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked ...	ORPHA:171929
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Orthostatic hypotension, Failure to thrive, E...	ORPHA:199299
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Mildly elevated creatine kinase, Dysphagia	ORPHA:397744
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairment, Brain atrophy, Hyper...	OMIM:612938
Ectopic Aldosterone-Producing Tumor	Epistaxis, Ovarian neoplasm, Hypertension, Hypokalemia, Tinnitus, Decreased circulating renin level	ORPHA:231632
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Flexion contracture, Microtia, Congenital pyloric atresia	OMIM:612138
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Overweight, Delayed proximal femoral epiph...	ORPHA:226307
Gm1 Gangliosidosis	Generalized dystonia, Ventricular septal defect, Tremor, Congestive heart failure, Splenomegaly, ...	ORPHA:354
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit...	ORPHA:508
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper tantrums, Abnormal repe...	ORPHA:457279
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Abnormal central motor function, Ataxia, Hypouricemia, Cerebral palsy, Hypertonia,...	ORPHA:760
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor, Megaloblastic anemia	OMIM:243320
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Tinnitus	ORPHA:404
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia	OMIM:605635
Charge Syndrome	Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, A...	ORPHA:138
Kleefstra Syndrome	Aggressive behavior, Chronic otitis media, Self-mutilation, Cryptorchidism, Self-injurious behavi...	ORPHA:261494
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, High, narrow palate, Renal cyst, Nephrocalcinosis, Gastroesophageal reflux, Atrial se...	ORPHA:369837
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, EEG with abnormally slow frequencies, Congestive heart failure, Multifocal ...	ORPHA:70472
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Large for gestational age, Cardiomegaly, Gastrointestinal dysm...	ORPHA:363705
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly, Recurrent ot...	OMIM:616651
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Sensorineural hearing impairment, Hypertrop...	OMIM:607426
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Overlapping toe, Flexion contracture...	OMIM:617301
Beta-Ketothiolase Deficiency	Fever, Ataxia, Hypoglycemia, Anorexia, Hyperammonemia, Agitation, Hyperuricemia, Extrapyramidal d...	ORPHA:134
9P13 Microdeletion Syndrome	Abnormality of cartilage of external ear, Bruxism, Attention deficit hyperactivity disorder, Low-...	ORPHA:324313
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Hypertrophic cardiomyo...	ORPHA:496790
Encephalitis Lethargica	Tremor, Urinary incontinence, Stiff neck, Bradycardia	ORPHA:83600
Yellow Fever	Shock, Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentrat...	ORPHA:99829
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Floating-Harbor Syndrome	Restlessness, Broad-based gait, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsi...	ORPHA:2044
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge...	OMIM:274000
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Difficulty walking, Dys...	ORPHA:642
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Hypogonadotropic hypogonadism, Impulsivity, Cerebral atrophy, Protruding ear,...	OMIM:301030
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy	OMIM:614299
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio...	OMIM:601678
Ohdo Syndrome, Sbbys Variant	Posteriorly rotated ears, Cryptorchidism, Dilated cardiomyopathy, Low-set ears, Hearing impairment	OMIM:603736
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Myoglobinuria, Hyperkalemia, Arrhythmi...	ORPHA:57
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Sinus bradycardia, Hypsarrhythmia, Congenital contracture, Dystonia, Arthrog...	OMIM:618397
Friedreich Ataxia	Abnormal EKG, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Decreased sen...	OMIM:229300
Bartter Syndrome Type 4	Renal salt wasting, Protruding ear, Nephrocalcinosis, Increased circulating renin level, Hyponatr...	ORPHA:89938
Noonan Syndrome 7	Thickened helices, Large earlobe, Low-set ears, Pulmonic stenosis, Atrial septal defect, Hypertro...	OMIM:613706
Distal Myotilinopathy	Cardiomyopathy	ORPHA:98911
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hearing abnormality, Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:1842
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Posteriorly rotated ears, Prominent crus of helix, Cerebral atrophy, Low-set ...	OMIM:617804
Combined Oxidative Phosphorylation Deficiency 20	EEG with burst suppression, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r...	ORPHA:521426
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Sensorineural hearing impairment, Central nervous system degeneration, Cardiomyopat...	ORPHA:98907
Brain-Lung-Thyroid Syndrome	Hyperactivity, Dystonia, Ataxia, Incoordination, Involuntary movements, Abnormal eating behavior,...	ORPHA:209905
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Gait imbalance, Dystonia, ...	ORPHA:2828
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto...	OMIM:616959
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ...	OMIM:115197
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Broad ribs, Hyperactivity, Iliac crest serration, Limited kn...	ORPHA:239
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Posteriorly rotated ears, Cardiomegaly, Large fleshy ears, Low-set ear...	OMIM:616897
Toriello-Carey Syndrome	Abnormal pinna morphology, Aganglionic megacolon, Cryptorchidism, Cerebral atrophy, Cardiomyopath...	ORPHA:3338
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Ovarian neoplasm, Co...	ORPHA:157798
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia,...	ORPHA:3008
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormal pinna morphology, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, EEG abnormal...	ORPHA:480898
Roifman Syndrome	Recurrent otitis media, Noncompaction cardiomyopathy, Hippocampal atrophy, Hepatosplenomegaly	ORPHA:353298
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Hardikar Syndrome	Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Hepatomegal...	OMIM:301068
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Cardiomyopathy, Facial diplegia	ORPHA:521411
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy	OMIM:309930
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hepatomegaly, Optic atrophy, Low-set ears, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619383
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Low-set, posteriorly rotated ears, Abnormal...	ORPHA:500
Agel Amyloidosis	Facial palsy, Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, H...	ORPHA:85448
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Splenomegaly, Cardiomyopathy, Hyp...	ORPHA:93473
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Incr...	ORPHA:98849
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Ectopic kidney, High, narrow palate...	OMIM:122470
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Dysphagia, Vocal cord paresis	OMIM:619574
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Urinary incontinence...	OMIM:268800
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastroin...	OMIM:270400
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hypertrophic cardiomyopathy, Optic atrophy, Bilateral sensorineural hearing impairment	ORPHA:436271
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Sensorineural hearing impairment, Low-output congest...	ORPHA:565612
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Mucopolysaccharidosis, Type Iiid	Thickened ribs, Oppositional defiant disorder, Hepatomegaly, Hyperactivity, Low-set ears, Inguina...	OMIM:252940
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Tremor, Cerebral atrophy, Cardiomyopathy, Athetosis, Low-set ears, Limb dystonia	ORPHA:572798
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia	OMIM:617281
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Rectal prolapse, Cutaneous finger syndactyly, Hypoalbuminemia, Protein-losing ent...	OMIM:235510
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Pseudob...	OMIM:125310
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Bronchogenic Cyst	Abnormal pericardium morphology, Abnormal stomach morphology, Dysphagia, Abnormal myocardium morp...	ORPHA:2357
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Distal Nebulin Myopathy	Cardiomyopathy	ORPHA:399103
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Generalized dystonia, Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopa...	OMIM:618321
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Pitt-Hopkins Syndrome	Cryptorchidism, Cupped ear, Self-injurious behavior, Thickened helices, Abnormal repetitive manne...	OMIM:610954
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Anteriorly placed anus, High palate, Distally placed thumb, Hyperactivity, Hypospa...	OMIM:619148
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc...	OMIM:212140
Addison Disease	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Primary testicular failure, Salt cravin...	ORPHA:85138
Liddle Syndrome 1	Hypertension, Hypokalemia, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Satoyoshi Syndrome	Short metacarpal, Malabsorption, Short metatarsal, Osteolytic defects of the phalanges of the han...	OMIM:600705
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Increased circu...	ORPHA:556037
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy	OMIM:613313
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Pain insensitivity, Broad-based gait, Ataxia, Posteriorly rotated ears, Overf...	OMIM:617330
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat...	ORPHA:522077
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga...	ORPHA:96121
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Noonan Syndrome	Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin...	ORPHA:648
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Fa...	ORPHA:25
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Increased circu...	ORPHA:556030
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Sensorineural hearing impairment,...	ORPHA:550
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus	OMIM:616113
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Proteinuria, Glomerulonephritis, Sensorineural hearing impairment, Stage 5 c...	OMIM:104200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Cardiomyopathy, Sensorineural hearing impairment, Cerebral atrophy	OMIM:616084
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Congestive heart failure, Sensorineural hearing impairment, Sple...	ORPHA:579
Hyperlysinemia	Hyperactivity, Failure to thrive, Craniosynostosis, EEG with spike-wave complexes, Tremor, Argini...	ORPHA:2203
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cardiomyopathy, Mitral regu...	OMIM:607014
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Tongue thrusting, Self-injurious behavior, Microtia, Stereotypical body rocking, L...	ORPHA:261323
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Dystonia	OMIM:246900
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ...	ORPHA:860
Glycogen Storage Disease Iii	Ventricular hypertrophy, Cardiomyopathy, Hepatomegaly	OMIM:232400
Serotonin Syndrome	Fever, Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus	ORPHA:43116
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Cerebral atrophy, Mic...	OMIM:301040
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructiv...	ORPHA:432
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chro...	ORPHA:97362
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Wolfram Syndrome	Gastrointestinal hemorrhage, Sensorineural hearing impairment, Optic atrophy, Cardiomyopathy, Abn...	ORPHA:3463
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	EEG with focal epileptiform discharges, EEG abnormality, Tongue thrusting, Dysphagia	ORPHA:98795
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Hyperkalemia, Weight loss, Hypovolemic...	ORPHA:171876
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Vertigo, Lip telangi...	ORPHA:79280
Noonan Syndrome 4	Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Cryptorchidism, Pulmonic ...	OMIM:610733
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Optic ...	OMIM:619512
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620135
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Gastroesophageal reflux, Compulsive behaviors, Conductive hearing impairme...	ORPHA:353281
Costello Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Mitral valve prolap...	ORPHA:3071
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hypertrophic cardiomyopathy, Optic atrophy, Sensorineural hearing impairment	OMIM:220110
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Bicuspid aortic valve, High, narrow palate, Protruding ear, Tics, High palate, Com...	OMIM:619475
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Abnormal pinna morphology, Cerebral atrophy, Protruding ear, Choreoathetosis,...	OMIM:615471
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Abnormal pinna morphology, Congestive heart failure, Abnormal heart morphology, Car...	ORPHA:26791
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Elevated stool chloride content, Hypochloremia, Hypokalemia, Increased circulating ...	OMIM:214700
Bainbridge-Ropers Syndrome	Posteriorly rotated ears, Cryptorchidism, Self-injurious behavior, Low-set ears, Recurrent hand f...	OMIM:615485
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy, Hearing impair...	ORPHA:702
Congenital Muscular Dystrophy With Cerebellar Involvement	Cardiomyopathy, Optic atrophy, Optic nerve hypoplasia	ORPHA:370959
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Hyperekplexia 3	Exaggerated startle response, Syncope, Gastroesophageal reflux, Hiatus hernia	OMIM:614618
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Sensorineural hearing impairment, Ca...	OMIM:253220
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ...	ORPHA:3138
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog...	ORPHA:576
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Atrial septal defec...	OMIM:620327
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy, Macrotia	OMIM:616051
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal repetitive mannerism...	ORPHA:580
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Salt craving, Renal insufficiency, Hype...	ORPHA:95409
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Sandifer Syndrome	Abnormal head movements	ORPHA:71272
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618126
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Type II diabetes mellitus, Ataxia, Elevated circulating creatine kinase concentration	ORPHA:79095
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Peptic ulcer, Parathormone-...	ORPHA:405
Von Hippel-Lindau Disease	Papilledema, Myocardial infarction, Myocarditis, Vertigo, Endolymphatic sac tumor, Abnormal left ...	ORPHA:892
Degcags Syndrome	Osteopenia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency an...	OMIM:619488
8P23.1 Microdeletion Syndrome	External ear malformation, Cryptorchidism, Hypertrophic cardiomyopathy, Abnormal cardiac septum m...	ORPHA:251071
Isolated Complex I Deficiency	Hepatomegaly, Optic disc pallor, Optic neuropathy, Sensorineural hearing impairment, Hypertrophic...	ORPHA:2609
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb ataxi...	OMIM:617675
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Cupped ear, Protruding ear, Self-injurious behavior, Microtia, Inappropriate...	OMIM:156200
Developmental And Epileptic Encephalopathy 2	EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:300672
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Broad-based gait, Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior...	OMIM:614756
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:618234
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Cardiomyopathy	OMIM:608807
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J...	ORPHA:85443
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Cardiac-Urogenital Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an...	OMIM:618280
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia	OMIM:218700
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro...	OMIM:154020
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Posteriorly rotated ears, Cryptorchidism, Cardiomyopa...	OMIM:605275
Deafness, Unilateral	Unilateral deafness	OMIM:125000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hypoalbuminemia, Hernia, Atrial septal defect, Patent foramen ov...	ORPHA:505248
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia	ORPHA:438216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom...	OMIM:253800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Clitoral hypertrophy, Hypospadias, Renal salt wasting, Female external genitalia in...	ORPHA:90791
Alg1-Cdg	Cerebellar atrophy, Cardiomyopathy, Cerebral atrophy, Abnormal heart morphology	ORPHA:79327
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Cardiomyopathy	OMIM:609308
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal heart valve morphology, Pyloric stenosis, Shoulder dislocation, Ga...	ORPHA:98892
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy	OMIM:615352
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Progressive spastic quadriplegia, Hyperargininemia, Spas...	OMIM:207800
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Gastroesophageal reflux, Clinodactyly...	ORPHA:1606
Familial Glucocorticoid Deficiency	Hyponatremia, Anorexia, Renal salt wasting, Precocious puberty, Cryptorchidism, Hyperkalemia, Tes...	ORPHA:361
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Sensorineural hearing impairment, Small bowel diverticula, Fat malabsorption, Hypopr...	OMIM:221400
Glycogen Storage Disease Due To Acid Maltase Deficiency	Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion contracture, Oligosacch...	ORPHA:365
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa...	ORPHA:14
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Hyperkalemia, Increased circulating re...	OMIM:610600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly...	OMIM:617527
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Facial palsy, Tremor, Sensorineural hearing impairment, Dilated c...	OMIM:164310
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms	ORPHA:319182
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, F...	OMIM:203400
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Finnish Upper Limb-Onset Distal Myopathy	Cardiomyopathy	ORPHA:399086
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Tics, Compulsive behaviors, Short palm, Clinodactyly of the 5th finger, Atri...	ORPHA:261330
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep...	ORPHA:476126
46,Xy Sex Reversal 4	Distal symphalangism, Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Elevated ...	OMIM:154230
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Global systolic dysfunction	OMIM:606842
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Renal cyst, Protruding ear, Gastroesophageal reflux, Clinodactyly of...	ORPHA:464306
Asparagine Synthetase Deficiency	Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, Tremor, EEG with burst s...	OMIM:615574
Helix Syndrome	Renal insufficiency, Polyuria, Xerostomia, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocal...	OMIM:617671
Martsolf Syndrome 1	Posteriorly rotated ears, Cardiac arrest, Congestive heart failure, Cryptorchidism, Cardiomyopath...	OMIM:212720
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Multifocal epileptiform discharges, Cerebral atrophy, Low-set ears, Restricti...	OMIM:615398
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hepatomegaly, Cardiac arrest, Myofiber disarray, Cerebral atrophy, Brain atro...	OMIM:604377
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, High palate, Atrial septal defect, Prominent fingertip pa...	OMIM:610443
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f...	OMIM:301066
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno...	OMIM:616875
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Leukopenia, Abn...	ORPHA:381
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Abnormal cardiac septum morphology, Abnormal pinna morphology, Cryptorchidism	OMIM:217980
Joubert Syndrome 1	Optic disc pallor, Hyperactivity, Ataxia, Aggressive behavior, Optic disc coloboma, Low-set ears,...	OMIM:213300
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Cardiomyopathy, Arrhythmia	OMIM:612999
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Tremor, Cryptorchidism, Hypertension, Low-set ears, Arrhythmia, Hypertrophic cardiomyopathy, Inte...	OMIM:614052
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615356
Wolf-Hirschhorn Syndrome	Gastroesophageal reflux, Conductive hearing impairment, Atrial septal defect, Abnormal repetitive...	OMIM:194190
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Cardiomyopathy	OMIM:619566
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Prominent interphalangeal joints, Gait ataxia, H...	OMIM:135900
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy	OMIM:613752
Opitz-Kaveggia Syndrome	Multiple joint contractures, Anteriorly placed anus, Prominent fingertip pads, Simple ear, Syndac...	OMIM:305450
Cocaine Intoxication	Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:90068
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia,...	ORPHA:468631
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Hepatomegaly	OMIM:606069
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Hepatomegaly, Pericarditis, Pericardial effusion, Tremor, Cardiomyopathy, Mac...	OMIM:212065
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Femora...	ORPHA:3342
Early Infantile Epileptic Encephalopathy	Tremor, Choreoathetosis, Ureterocele, Micropenis, Hyperactivity, Precocious puberty, EEG with bur...	ORPHA:1934
Legius Syndrome	Hyperactivity, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Nephrolithiasis, Desmoid ...	ORPHA:137605
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fis...	OMIM:614083
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, High palate, Clinodactyly of the 5th finger, Atrial sep...	OMIM:619522
Koolen-De Vries Syndrome	Vertebral fusion, Ureteral duplication, Arachnodactyly, Hypospadias, Abnormal dental enamel morph...	ORPHA:96169
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, High palate, Gastroesophageal reflux, Compulsive behaviors, Conductive hea...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, High palate, Gastroesophageal reflux, Compulsive behaviors, Conductive hea...	ORPHA:353277
Noonan Syndrome 10	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Hypertrophic cardiomyopathy, Mi...	OMIM:616564
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, ...	ORPHA:217085
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Ataxia-Telangiectasia	Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inabilit...	OMIM:208900
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defe...	OMIM:107480
Noonan Syndrome 14	Aortic regurgitation, Posteriorly rotated ears, Cryptorchidism, Mitral valve prolapse, Low-set ea...	OMIM:619745
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, ...	ORPHA:217093
Perrault Syndrome 4	Osteoporosis, Obesity, Cleft palate, Gait ataxia, Hypoplasia of the uterus, Bicornuate uterus, Hy...	OMIM:615300
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Cryptorchidism, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repetitive ma...	OMIM:619005
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy, Cerebral atrophy, Hypsarrhythmia	ORPHA:324525
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Proteinuria, Megaloblastic anemia,...	ORPHA:35858
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hypotension, Failure to thrive	OMIM:264350
Micro Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Optic atrophy, Abnormality of visual evoked po...	ORPHA:2510
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Self-mutilation, Postural hypotension with compensatory tachycardia, Abnormal auto...	OMIM:256800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Cockayne Syndrome Type 3	Optic disc pallor, Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyo...	ORPHA:90324
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Cryptorchidism, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears	OMIM:618653
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial polydactyly, Postaxial h...	OMIM:619879
Nmda Receptor Encephalitis	Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, Opis...	ORPHA:217253
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Opisthotonus, Tibial bowing, Hypoplasia of first ...	OMIM:269150
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate, Hypoplasia of t...	OMIM:601076
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Cryptorchidism, Protruding ear, Attention deficit hyperactivity disorder, Abno...	ORPHA:464311
Sandhoff Disease, Infantile Form	Exaggerated startle response, Mitral valve prolapse, Mitral regurgitation, Hepatosplenomegaly	ORPHA:309155
Alternating Hemiplegia Of Childhood	Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Tremor, ...	ORPHA:2131
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Head-banging, Abnormal temper tantrums, Compulsive behaviors, Atte...	ORPHA:177907
Leigh Syndrome	Cerebellar atrophy, Ventricular septal defect, Congestive heart failure, Sensorineural hearing im...	ORPHA:506
Kinsship Syndrome	Abnormal repetitive mannerisms, Brain atrophy, Low-set ears, Bruxism	OMIM:619297
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Cupped ear, Optic atrophy, Cerebral atro...	OMIM:309590
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Cardiomyopathy, Facial palsy	ORPHA:206549
Occipital Horn Syndrome	Hypothermia, Dysphagia	ORPHA:198
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor	OMIM:609153
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Left ventricular hypertrophy, Cardiomyopathy	ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia, Abnormal dental enamel morphology	ORPHA:757
Propionic Acidemia	Hepatomegaly, Cerebellar hemorrhage, Cerebral atrophy, Cardiomyopathy, Dystonia	OMIM:606054
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Exaggerated startle response, Flexion contracture	OMIM:618201
Marshall-Smith Syndrome	Large sternal ossification centers, Bilateral cryptorchidism, Distal widening of metacarpals, Cox...	OMIM:602535
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Prominent ear helix, Flexi...	OMIM:614438
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276556
Cardiofaciocutaneous Syndrome 1	Posteriorly rotated ears, Splenomegaly, Optic nerve dysplasia, Anterior creases of earlobe, Large...	OMIM:115150
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Omphalocele, Posteriorly rotated ears, Small for gestational age, Unilateral re...	OMIM:618419
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive	OMIM:177735
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Gorham-Stout Disease	Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cardiomyopathy, Mitral regurgitation, Pulmon...	OMIM:253200
Okur-Chung Neurodevelopmental Syndrome	Cupped ear, Low-set ears, Attention deficit hyperactivity disorder, Frequent temper tantrums, Ove...	OMIM:617062
Tibial Muscular Dystrophy	Cardiomyopathy	ORPHA:609
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy, Hypsarrhythmia	OMIM:600721
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Bone-marrow foam cells, Cachexia, Hyper...	ORPHA:275761
Esophageal Atresia	Gastrointestinal dysmotility, Anorectal anomaly, Clinodactyly, Gastroesophageal reflux, Barrett e...	ORPHA:1199
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic...	OMIM:157800
Ulnar-Mammary Syndrome	Deformed radius, Small scrotum, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Apl...	OMIM:181450
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi...	ORPHA:513456
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Inguinal hernia, Hyperactivity, Posteriorly rotated ears, Congenital diaphragm...	OMIM:614294
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Congenital pyloric atresia, Urethr...	OMIM:226730
Nephronophthisis 16	Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En...	OMIM:615382
Hyperekplexia 2	Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia	OMIM:614619
Pyruvate Dehydrogenase E3 Deficiency	Cardiomyopathy, Abnormal cardiac ventricular function, Hepatomegaly	ORPHA:2394
Niemann-Pick Disease, Type C2	Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia	OMIM:607625
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor	ORPHA:99819
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Osteogenesis Imperfecta, Type X	Osteopenia, Multiple rib fractures, Inguinal hernia, Short femur, Bowing of the long bones, Joint...	OMIM:613848
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Arachnodactyly, Abnormal pinna morphology, Congenital diaphragmatic hernia, High...	OMIM:614437
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Arthrit...	ORPHA:779
Distal Deletion 12Q	Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, ...	ORPHA:96149
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat...	OMIM:256300
Chromosome 17Q12 Deletion Syndrome	Pica, Renal cyst, Protruding ear, High palate, Short palm, Long toe, Multicystic kidney dysplasia...	OMIM:614527
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Thickened helices, Cryptorchi...	ORPHA:1340
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Anteriorly placed anus, Conduct...	OMIM:201750
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypoph...	ORPHA:469
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Hypertensive crisis, Acute colitis, Brain abscess, Anuria, Intest...	ORPHA:544482
Meier-Gorlin Syndrome 1	Microtia, Atresia of the external auditory canal, Low-set ears, Incomplete partition of the cochl...	OMIM:224690
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas...	OMIM:620330
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Cardiomegaly, High, narrow palate, Abnormal finger m...	ORPHA:3472
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Absent external genitalia, Missing ribs, Rib ...	OMIM:271520
Vici Syndrome	Congestive heart failure, Sensorineural hearing impairment, Dilated cardiomyopathy, Cardiomyopath...	OMIM:242840
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Splenomegaly, Optic atrophy, Brain atrophy, Atrial septal...	OMIM:617303
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cryptorchi...	OMIM:615873
Noonan Syndrome 3	Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Cryptorchidism, Mitral va...	OMIM:609942
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Hyponatremia, Clitoral hyper...	ORPHA:90794
Leopard Syndrome 1	Bundle branch block, Posteriorly rotated ears, Complete atrioventricular canal defect, Sensorineu...	OMIM:151100
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale...	ORPHA:427
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to...	OMIM:608885
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir...	OMIM:618528
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphr...	OMIM:309801
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ...	ORPHA:1772
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Premature thelarche, Protruding ear, Gastroesophageal reflux, Micropenis, Hypospadias, Cleft soft...	ORPHA:268261
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Bicarbonat...	OMIM:229600
Hemochromatosis, Type 3	Cardiomyopathy	OMIM:604250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Long ear, Aplas...	OMIM:276820
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, A...	ORPHA:309256
Developmental And Epileptic Encephalopathy 100	Chorea, Cerebral atrophy, Gait ataxia, Choreoathetosis, Brain atrophy, Dysphagia, Abnormal repeti...	OMIM:619777
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Cleft palate, A...	ORPHA:2237
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials, Brain atrophy	OMIM:614457
Jacobsen Syndrome	Long hallux, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad hallux phalanx, Fi...	ORPHA:2308
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Osteoarthritis, Protruding ear, Gastrointestinal...	ORPHA:286
Satoyoshi Syndrome	Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ...	ORPHA:3130
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Proximal placement of thumb, Gastroesophage...	ORPHA:818
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Hypoplasia of the fallopian tube, Hyperlipidemia, Protruding ear, Chore...	ORPHA:3464
Gm2-Gangliosidosis, Ab Variant	Chorea, Exaggerated startle response, Dystonia	OMIM:272750
Trichothiodystrophy	Ventricular septal defect, Cryptorchidism, Protruding ear, Cardiomyopathy, Bilateral sensorineura...	ORPHA:33364
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Agitation, Hand tremor	ORPHA:424
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Aplasia of the ulna, Cryptorchidism...	ORPHA:2879
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension	OMIM:620125
Oeis Complex	Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambi...	OMIM:258040
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, A...	ORPHA:309263
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Subvalvular aortic stenos...	OMIM:619461
Supranuclear Palsy, Progressive, 1	Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin...	OMIM:601104
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Hyperactivity, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unil...	ORPHA:457284
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ar...	ORPHA:2461
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Hepatomegaly, Optic neuropathy, Splenomegaly, Sensorineura...	OMIM:252010
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Myopathy, Myofibrillar, 4	Cardiomyopathy	OMIM:609452
Charge Syndrome	Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ...	OMIM:214800
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Dystonia	OMIM:300842
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst...	ORPHA:646
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Hearing impairment	ORPHA:508542
Duchenne Muscular Dystrophy	Cardiomyopathy	ORPHA:98896
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Renal salt wasting, Precocious puberty, Cryptorchidism, Hyperkalemia, Failure to th...	OMIM:614736
Pseudohypoaldosteronism, Type Iia	Hypertension, Hyperkalemia	OMIM:145260
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Posteriorly rotated ears, Underdeveloped superior crus of antihelix, Aggressive behavior, Tongue ...	ORPHA:369950
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Splenomegaly, Vasculitis, Cerebral atrophy, Cardiomyopathy, Dystonia	OMIM:225750
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Hepatomegaly, Aganglionic megacolon, Heart block, Cardiomyopat...	ORPHA:175
Zimmermann-Laband Syndrome 1	Hepatomegaly, Posteriorly rotated ears, Splenomegaly, Cardiomyopathy, Low-set ears, Hearing impai...	OMIM:135500
Okamoto Syndrome	Urinary incontinence, Primum atrial septal defect, Gastroesophageal reflux, Exaggerated median to...	ORPHA:2729
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Precocious puberty, Oligozoospermia, Hypertension, Hypokalemia,...	ORPHA:786
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At...	OMIM:306955
Primary Hyperoxaluria	Optic disc pallor, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Cardiomyop...	ORPHA:416
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Abnormal urinary color, Hepato...	ORPHA:234
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Short metatarsal, Finger cl...	OMIM:617137
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Monosomy 22Q13.3	Hyperactivity, Impaired pain sensation, Hair-pulling, Bruxism, Cerebellar cortical atrophy, Macro...	ORPHA:48652
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Hip dislocation, Inguinal hernia	OMIM:149400
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Intraventricular hemorrhag...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Intraventricular hemorrhag...	ORPHA:363958
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, Generalized joint laxity, Right vent...	OMIM:619472
Microphthalmia, Syndromic 9	Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, ...	OMIM:601186
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Intracranial hemorrhage, Hypertension, Hyp...	ORPHA:199244
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Arboleda-Tham Syndrome	Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Bilateral cryptorchidi...	OMIM:616268
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Urinary incontinence, Sinus bradycardia, Gastroesophageal reflux, D...	OMIM:619482
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Posterior hel...	OMIM:130650
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Cerebral atrophy, Opisthotonus, Choreoathetosis, Cardiomyopathy	ORPHA:445038
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Neutral Lipid Storage Myopathy	Cardiomyopathy, Sensorineural hearing impairment, Congestive heart failure, Hepatomegaly	ORPHA:98908
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Ataxia, Hypokalemia, Gastroesophageal reflux, Failure to thrive	OMIM:618426
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Woodhouse-Sakati Syndrome	Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, Neoplasm of the stoma...	ORPHA:44890
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,...	OMIM:614837
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Inguinal hernia, Bifid sternum, Tapere...	OMIM:303600
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Proximal placement of thumb, High palate, A...	ORPHA:199
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Pyloric sten...	ORPHA:93111
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention ...	OMIM:617914
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, Brain atrophy	OMIM:620326
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri...	ORPHA:508498
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Cryptorchidism, Sens...	OMIM:619325
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ...	OMIM:301044
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, A...	ORPHA:309271
Glycogen Storage Disease Iv	Cardiomyopathy, Portal hypertension, Hepatosplenomegaly	OMIM:232500
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Cardiomyopathy, Pontocerebellar atrophy, Reduced left ventricular ejection fraction...	ORPHA:258
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Osteopenia, Sandal gap, J...	OMIM:613177
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Fever, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Meckel Syndrome 12	Rocker bottom foot, Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvula,...	OMIM:616258
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Hec Syndrome	Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis	ORPHA:2119
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Protruding ear, Righ...	OMIM:617403
Jacobsen Syndrome	Atrial septal defect, Hypospadias, Ventricular septal defect, Missing ribs, Cryptorchidism, Pylor...	OMIM:147791
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger, Irritability, Dysphagia...	OMIM:618367
Camurati-Engelmann Disease	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Optic nerve...	ORPHA:1328
Dpagt1-Cdg	EEG with generalized slow activity, Aggressive behavior, Optic atrophy, Head-banging, Hypsarrhyth...	ORPHA:86309
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp...	OMIM:201475
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblas...	OMIM:312870
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Müllerian Aplasia And Hyperandrogenism	Obesity, Cleft palate, Protruding ear, Hypoplasia of the uterus, Abnormal vagina morphology, Abno...	ORPHA:247768
Sarcoidosis	Fever, Hypercalcemia, Hypothermia	ORPHA:797
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Posteriorly rotated ears, Cryptorchidism, Pulmon...	OMIM:607721
Primrose Syndrome	Restlessness, Calcification of the auricular cartilage, Hypergonadotropic hypogonadism, Aggressiv...	OMIM:259050
Aicardi-Goutières Syndrome	Dystonia, Cardiomegaly, Raynaud phenomenon, Tremor, Hepatosplenomegaly, Degeneration of the stria...	ORPHA:51
Stargardt Disease	Abnormality of visual evoked potentials	ORPHA:827
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Malabsorption, External ear malform...	ORPHA:2136
Seckel Syndrome 7	Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Microtia, Clinodactyly of th...	OMIM:614851
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Finger joint hypermobility, Uterine rupture, Hype...	OMIM:130050
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ...	ORPHA:183
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly	OMIM:619902
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t...	OMIM:609441
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Abnormal cardiac ventricular function, Inguinal hernia, Small bowel diverticula, Co...	ORPHA:90349
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Congestive heart failure	OMIM:616866
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney disease, Uterus did...	OMIM:146255
Pseudohypoaldosteronism, Type Iic	Hypertension, Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag...	ORPHA:141127
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Heart murmur	OMIM:615418
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hypotension	ORPHA:199296
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:228305
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom...	OMIM:231550
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Cleft earlobe, Dilated cardiomyopathy, Abnormality of the ear, Abnormal ...	ORPHA:2556
Estrogen Resistance Syndrome	Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Osteoporosis, Hypoplasi...	ORPHA:785
Ruvalcaba Syndrome	Abnormality of visual evoked potentials, Cryptorchidism	ORPHA:3121
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Yunis-Varon Syndrome	Congenital hip dislocation, Short metatarsal, Protruding ear, High palate, Absent hallux, Micrope...	OMIM:216340
Oculocutaneous Albinism Type 1	Abnormality of visual evoked potentials	ORPHA:352731
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Left ven...	ORPHA:746
Cutis Laxa, Autosomal Recessive, Type Iic	Bilateral cryptorchidism, Knee flexion contracture, Nephrocalcinosis, High palate, Atrial septal ...	OMIM:617402
Epidermolysis Bullosa Simplex With Pyloric Atresia	Elevated circulating creatine kinase concentration, Abnormality of the urethra, Scarring alopecia...	ORPHA:158684
Lipodystrophy, Congenital Generalized, Type 1	Splenomegaly, Cardiomyopathy, Macrotia, Hepatomegaly	OMIM:608594
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus...	OMIM:619705
Ogden Syndrome	Cryptorchidism, Cerebral atrophy, Protruding ear, Hydrocele testis, Low-set ears, Dysphagia, Recu...	OMIM:300855
Costello Syndrome	Ventricular septal defect, Posteriorly rotated ears, Cerebral atrophy, Mitral valve prolapse, Ves...	OMIM:218040
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Thickened helices, Conductive hearing impairment, Atrial septal defect, Pa...	OMIM:607872
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaph...	OMIM:201810
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage, Hepatomegaly	OMIM:251000
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal repetitive mannerisms	ORPHA:508533
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Mowat-Wilson Syndrome	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft har...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft har...	ORPHA:261537
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Male pseudohermaphroditism, Hyperkalemia, Macroorchidism, Ab...	ORPHA:90790
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m...	OMIM:252500
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia...	ORPHA:247691
Penoscrotal Transposition	Cardiomyopathy, Cerebral cortical atrophy	ORPHA:2842
Pseudohypoaldosteronism, Type Iib	Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614495
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkale...	ORPHA:293978
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Low-set, posteriorly rotated ears, Hepatomegaly, Vent...	ORPHA:373
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Cardiomyopathy	ORPHA:119
Pseudohypoaldosteronism, Type Iie	Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614496
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Cerebral atrophy, EEG abnormality, Hypertrophic cardiomyopathy, Hearing impai...	OMIM:124000
Postinfectious Vasculitis	Cerebral vasculitis, Abnormality of the peripheral nervous system, Raynaud phenomenon, Orchitis, ...	ORPHA:48435
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi...	OMIM:615415
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Absent penis, Vesicoureteral reflux, Bladder exs...	ORPHA:322
Perrault Syndrome 3	Hypoplasia of the uterus, Sensorineural hearing impairment, Streak ovary, Hypergonadotropic hypog...	OMIM:614129
Fanconi Anemia	Aganglionic megacolon, External ear malformation, Hearing abnormality, Cryptorchidism, Azoospermi...	ORPHA:84
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Hematochezia, Cardi...	OMIM:615895
Hermansky-Pudlak Syndrome	Abnormality of visual evoked potentials, Menometrorrhagia, Anorexia	ORPHA:79430
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Congenital diaphragmatic hernia, Flexion contracture, ...	OMIM:601803
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Proximal placement of thumb, Limited elbow moveme...	OMIM:261540
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft har...	ORPHA:261552
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, Abnormal...	OMIM:612474
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Contrac...	ORPHA:83617
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy...	ORPHA:99901
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Mitochondrial swelling, Palpitations, Abnormal heart morphology	OMIM:618250
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Myocardial infarction, Anorexia...	ORPHA:99889
Townes-Brocks Syndrome 2	Crossed fused renal ectopia, Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistul...	OMIM:617466
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Splenomegaly, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Macrotia	OMIM:269700
Noonan Syndrome 1	Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairment, Low-set ears, Pulmon...	OMIM:163950
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive system morphology...	ORPHA:1916
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b...	ORPHA:805
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t...	OMIM:161700
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Bifid uterus, C...	OMIM:256520
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Beckwith-Wiedemann Syndrome	Otosclerosis, Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal earlobe morpholo...	ORPHA:116
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy	ORPHA:88618
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Hypospadias, Abnormal pinna morphology, Ventricular septal defect,...	OMIM:236680
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Craniosynostosis, Atypical scarring of s...	ORPHA:60030
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Tremor, Aortic valve atresia, Hypertension, Mitral regurgi...	OMIM:220111
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Elevated circulating creatinine concentratio...	OMIM:137920
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Abnormal repetitive mannerisms	OMIM:616682
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology, Unilateral b...	ORPHA:1521
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, 3-4 finger cutaneous ...	ORPHA:69085
Estrogen Resistance	Hypoplasia of the uterus, Osteopenia, Polycystic ovaries	OMIM:615363
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Microtia, Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Craniorachischisis	Omphalocele, Anal atresia, Bifid sternum, Congenital diaphragmatic hernia	ORPHA:63260
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Protruding ear, Mitr...	ORPHA:363700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Splenomegaly, Cardiomyopathy, Hepatomegaly	ORPHA:264580
Hermansky-Pudlak Syndrome 1	Hematochezia, Cardiomyopathy, Epistaxis	OMIM:203300
Peters Plus Syndrome	Ureteral duplication, Bicuspid pulmonary valve, Clitoral hypoplasia, Conductive hearing impairmen...	ORPHA:709
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set, posteriorly rotated ears, Cardiomyopathy, Low-set ears, Brain atrophy, Atrial septal def...	ORPHA:480880
Pontocerebellar Hypoplasia Type 7	Fatigable weakness of skeletal muscles, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy,...	ORPHA:284339
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Acquired Generalized Lipodystrophy	Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension, Hepatomegaly	ORPHA:79086
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Horseshoe ...	ORPHA:3109
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:157
Carney Complex	Neoplasm of the stomach, Increased body weight, Leydig cell neoplasia, Ovarian serous cystadenoma...	ORPHA:1359
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Ce...	OMIM:615846
Acromegaly	Hypertension, Mitral regurgitation, Macrotia, Hypertrophic cardiomyopathy	ORPHA:963
Somatomammotropinoma	Hypertension, Mitral regurgitation, Macrotia, Hypertrophic cardiomyopathy	ORPHA:314769
Lowe Oculocerebrorenal Syndrome	Cryptorchidism, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Hypertrophic cardiomyopathy, Brain atrophy	OMIM:616539
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Bifid uterus, Cleft palate, Bifid uvula	ORPHA:2736
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Dystonia, Hypertrophic cardiomyopathy, Action tr...	ORPHA:309854
Microphthalmia, Syndromic 1	Bicuspid aortic valve, High, narrow palate, Rectal prolapse, High palate, Prominent fingertip pad...	OMIM:309800
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc...	ORPHA:79403
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of visual ...	OMIM:203700
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Oculocutaneous Albinism Type 1A	Abnormality of visual evoked potentials	ORPHA:79431
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy	OMIM:201470
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Cardiomyopathy, Dilatation of the ventricular cavity	ORPHA:363623
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ...	OMIM:119500
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Renovascular hypertension, Abnormal heart morphology, Hypertension, P...	ORPHA:97685
Heart Block, Congenital	Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros...	OMIM:234700
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Pmm2-Cdg	Pericarditis, Angina pectoris, Abnormal pinna morphology, Pericardial effusion, Intracranial hemo...	ORPHA:79318

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.

Phenotype	Allele	Zygosity	Life Stage
Brain - MPATH pathological process term necrosis	Myo6^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term developmental dysplasia	Myo6^em1(IMPC)Tcp	HOM	Early adult
Brain - MPATH pathological entity term hyalinosis	Myo6^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term spermatogenesis defect	Myo6^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological entity term germ cell defect	Myo6^em1(IMPC)Tcp	HOM	Early adult

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 Myo6.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Myo6^sv Myo6^sv	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Myo6^sv	PMC6459510
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Myo6^sv	PMC3996542

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Myo6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Myo6^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Myo6^em1(IMPC)Tcp	Exon Deletion	Mice
Myo6^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	ES Cells
Myo6^{tm40489(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Myo6^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	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: Myo6 MGI:104785

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lacZ Expression

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Histopathology

Gross Pathology and Tissue Collection

Eye Morphology

Legacy Phenotype Associated Images

Human diseases caused by Myo6 mutations

Histopathology

IMPC related publications

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