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Gene: Ppargc1a MGI:1342774

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Gene Summary

Name:
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
Synonyms:
Gm11133,  Pgco1,  A830037N07Rik,  Pgc-1alphaa,  Pgc-1alpha,  PPAR Gamma Coactivator-1,  Pgc1

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Ppargc1aem1(IMPC)Bay HET Early adult 1.71×10-10
preweaning lethality, incomplete penetrance Ppargc1aem1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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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.

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MicroCT E18.5

Embryo reconstruction

6 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Ppargc1a mutations

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

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

The table below shows human diseases associated to Ppargc1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803

The table below shows human diseases predicted to be associated to Ppargc1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the... OMIM:609161
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... ORPHA:100984
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous... OMIM:143100
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Gait ... OMIM:221820
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Impaired distal vibration sensation... OMIM:128230
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia ORPHA:210571
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p... ORPHA:314811
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Diarrhea 9
Villous atrophy OMIM:618168
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, C... OMIM:607136
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Parkinsonism With Polyneuropathy
Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res... OMIM:619279
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Bradykin... ORPHA:521406
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Iron accumula... ORPHA:329284
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Gait disturb... OMIM:618418
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Tremor, Abnormal pyramidal sign, Gait ataxia, Limb dystonia, Hepatic steatosis, ... ORPHA:363400
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Seizure, Progressive cerebellar ataxia, Dystoni... ORPHA:67046
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... OMIM:615528
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Depression, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclo... ORPHA:36899
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu... ORPHA:454887
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Brain atrophy, Cerebral cort... ORPHA:306669
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia ORPHA:71517
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, S... OMIM:615643
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cereb... OMIM:615924
Dystonia 30
Torticollis, Diffuse cerebral atrophy, Writer's cramp, Impulsivity, Aggressive behavior, Leg dyst... OMIM:619291
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:605909
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait... OMIM:612067
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Axonal degeneration, Tetraplegia, Hand tremor, Degeneration of anterior horn cell... OMIM:604484
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia OMIM:128235
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin... OMIM:619911
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis OMIM:619052
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Cerebral cortical atrophy, Action tremor OMIM:606438
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc... OMIM:615362
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Hand tremor, Seizure, Recurrent hypoglycemia, Type II diabetes mellitus... ORPHA:79299
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Hypoglycemia, Leucine-Induced
Ataxia, Hypoglycemia, Seizure, Irritability, Hyperinsulinemic hypoglycemia, Spasticity OMIM:240800
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Chorea, Abnormal brainstem morphology, Impaired propriocepti... ORPHA:98755
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Bradykinesia, Frontotemporal cerebr... ORPHA:412066
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Ba... OMIM:615157
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Dysmetri... OMIM:603516
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... OMIM:607060
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... OMIM:300894
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... ORPHA:401901
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... OMIM:619048
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Congestive heart failure, Failure t... ORPHA:796
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys... OMIM:614860
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramid... OMIM:607317
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... ORPHA:238455
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Limb hypertonia OMIM:617384
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Diabetes mellitus, Increased m... OMIM:610717
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Bradykinesia, Blepharospasm, Parkinsonism with favorab... OMIM:606324
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Ataxia, Tremor, Rigidity OMIM:617836
Developmental And Epileptic Encephalopathy 69
Axial hypotonia, Corpus callosum atrophy, Spastic tetraplegia, Congenital contracture, Hyperkinet... OMIM:618285
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan... ORPHA:26791
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Bradykinesia, Ble... OMIM:606159
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Epileptic spasm, Severe muscular hypotonia, Oculogyric crisis, Chorea, Hypoto... OMIM:614254
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Ataxia, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proxi... OMIM:500002
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Rigidity... OMIM:183090
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:610951
Mitochondrial Membrane Protein-Associated Neurodegeneration
Abnormal substantia nigra morphology, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradyki... ORPHA:289560
Dystonia 33
Axial dystonia, Axial hypotonia, Dystonia, Babinski sign, Limb dystonia, Neonatal seizure, Spasti... OMIM:619687
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Generalized-onset seizure, Ankle flexion contracture, Babinski sign, Spastic tetra... OMIM:616657
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Babinski sign, Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia,... OMIM:618284
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... ORPHA:240094
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Axial hypotonia, Hypoglycemia, Seizure, Hypertonia, Myoclonus, Failure to thrive OMIM:610090
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Developmental And Epileptic Encephalopathy 14
Clonus, Focal autonomic seizure, Focal motor seizure, Tetraplegia, Hypotonia, Status epilepticus,... OMIM:614959
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d... OMIM:128101
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240085
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Exercise intolerance, Fatigue, Ataxia, Gait ataxia, Depression, M... OMIM:613077
Huntington Disease
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ... ORPHA:399
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Cerebral atrophy, Distal sensory impairment, Bradykinesia, Cogwheel r... ORPHA:254886
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Creatine Phosphokinase, Elevated Serum
Increased muscle fatiguability, Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory... OMIM:123320
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction OMIM:500001
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Pigmentary retinopathy OMIM:609016
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Myopathy Due To Myoadenylate Deaminase Deficiency
Increased muscle fatiguability, Skeletal muscle atrophy, Reduced muscle myoadenylate deaminase ac... OMIM:615511
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Parkinsonism, Cerebral cortical atrophy, Craniofacial dystonia ORPHA:370103
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atrophy, Gait ataxia... OMIM:618877
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Irritability, Hypertonia, Myoclonus, Dyst... OMIM:261630
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, St... ORPHA:352596
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Distal amyotrophy, Hammertoe, Gait disturbance, Ulnar claw, Hepati... OMIM:618400
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Aggressive behavior, Gait ataxia, Depression, Lo... OMIM:618369
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, Inappropriate behavior,... OMIM:600795
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Clonic seizure, Hypotonia, Cerebral atrophy, Hemiparesis, Status epile... OMIM:615338
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Bradykinesia, Blepharospasm, Shuffling gait, Difficulty walk... ORPHA:53351
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, D... ORPHA:216873
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Fatigue, Exercise intolerance, Diabetes mellitus, Ragged-red muscle fibers, Limb muscle weakness,... OMIM:609286
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... OMIM:615400
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Neuronal ... OMIM:168600
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... OMIM:616198
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge... ORPHA:2590
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Aggressive behavior, Focal tonic seizure, Limb tremor, Seizure, Self-injurious behavior, Hyperton... OMIM:300699
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Impaired myocardial contractility, Exercise-induced muscle fati... ORPHA:681
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Hypotonia, Cerebral atrophy, Myoc... OMIM:618497
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... OMIM:612319
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Seizure, Hypoglycemia ORPHA:35701
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ... OMIM:612098
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigm... OMIM:162350
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Hsd10 Mitochondrial Disease
Restlessness, Hypoglycemia, Aggressive behavior, Spastic tetraplegia, Hypotonia, Choreoathetosis,... OMIM:300438
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Hypot... OMIM:616139
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Oliver-Mcfarlane Syndrome
Cryptorchidism, Central heterochromia, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Hypoglycemia, Rigidity, Hypotonia, Seizure, Athetosis, Irritability, Myoclonus OMIM:618241
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:614251
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Idiopathic Bronchiectasis
Myocardial infarction, Cachexia, Respiratory tract infection, Emphysema, Bronchiectasis, Acute in... ORPHA:60033
Parkinson Disease 21
Bradykinesia, Tremor, Rigidity, Parkinsonism OMIM:616361
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Impaired glucose tolerance, Tapered finger, Long fingers, Atrioventricular blo... OMIM:614407
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia OMIM:261640
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babin... ORPHA:225154
Mitochondrial Complex I Deficiency, Nuclear Type 29
Increased muscle fatiguability, Fatigue, Exercise intolerance, Abnormal heart morphology, Exercis... OMIM:618250
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure OMIM:611092
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial... OMIM:611694
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Combined Saposin Deficiency
Hepatomegaly, Generalized clonic seizure, Splenomegaly, Babinski sign, Hypotonia, Hyperkinetic mo... OMIM:611721
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Babinski sign, Cerebral atrophy, Euphoria, Seizure, Inappro... OMIM:221770
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Seizure, Pancreatic islet... ORPHA:276608
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Falls,... ORPHA:13
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Hypotonia, Myoclonus, Dystonia ORPHA:139406
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Fatigue, Ataxia, Hypoglycem... ORPHA:42
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism OMIM:619647
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive OMIM:615440
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Bradycardia, Dysphagia, Weakness of facial muscul... OMIM:620265
Mehmo Syndrome
Axial hypotonia, Hypoglycemia, Decreased response to growth hormone stimulation test, Spastic tet... OMIM:300148
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculat... OMIM:109150
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia, Cachexia ORPHA:157973
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons... OMIM:204300
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... ORPHA:79263
Dystonia 32
Limb dystonia, Torticollis, Brain atrophy, Dysphagia, Laryngeal dystonia OMIM:619637
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Hypotonia, Choreoathetosis, Irritability, Status epilepticus, Myo... OMIM:609056
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... ORPHA:36387
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Restlessness, Dystonia, Ataxia, Infantile spasms, Spastic tetraplegia, Seizure, Irritability, Sta... ORPHA:263410
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Sandhoff Disease, Adult Form
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Flexion contracture, Hypotonia, Cerebral ... OMIM:256730
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiac arres... OMIM:212138
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho... OMIM:500003
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hypotonia, Seizure, Irritability, ... OMIM:605899
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy, Cardiac shunt OMIM:305800
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Ethanolaminosis
Cardiomegaly OMIM:227150
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Restlessness, Epileptic spasm, Hypoglycemia, Focal-onset seizure, S... ORPHA:3006
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... OMIM:617854
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... OMIM:614561
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... OMIM:619725
Fructose And Galactose Intolerance
Seizure, Hypoglycemia OMIM:229500
Developmental And Epileptic Encephalopathy 40
Axial hypotonia, Small for gestational age, Spastic tetraparesis, Hypotonia, Choreoathetosis, Sei... OMIM:617065
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... OMIM:613327
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor OMIM:618876
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Cyanosis, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia,... ORPHA:71277
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Postural tremor, Rigidit... ORPHA:98808
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu... OMIM:204500
Tuberculosis
Abnormal lung morphology, Weight loss ORPHA:3389
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Infantile spasms, Tonic seizure, Spastic tetraplegia, Seizure, Focal clonic seiz... OMIM:251280
Glycogen Storage Disease Vii
Exercise intolerance, Increased circulating lactate dehydrogenase concentration, Jaundice, Increa... OMIM:232800
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Increased circulating androgen conc... ORPHA:228346
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal he... OMIM:619317
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... ORPHA:75567
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Hypotonia, Seizure, Decreased ... OMIM:246900
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age, Hypotonia, Seizure, Bruxism, Spast... ORPHA:356996
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Cyanosis, Hypoglycemia, Spastic tetraparesis, Poor coordi... ORPHA:391428
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Hyp... ORPHA:369
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Pick Disease Of Brain
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Gliosis, Emo... OMIM:172700
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Generalized no... ORPHA:98811
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Nonaka Myopathy
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... OMIM:605820
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Dysphagia, Athetosis, Gliosis, Dystonia OMIM:300857
Spinocerebellar Ataxia Type 2
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... ORPHA:98756
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia OMIM:125370
Pontocerebellar Hypoplasia, Type 4
Seizure, Congenital contracture, Hypertonia, Gliosis, Myoclonus, Dysphagia, Spasticity OMIM:225753
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, B... ORPHA:98768
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Bradykinesia, Hemiparesis, Truncal ataxia, Episod... OMIM:601338
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Seizure, Hypertonia, Dystonia, Failure to thrive, Hepatic steatosis, Infant... ORPHA:26792
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor gait, Cerebra... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Generali... OMIM:213200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... OMIM:619477
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... OMIM:615491
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity OMIM:615889
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... OMIM:616230
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... OMIM:300055
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Inguinal hernia, Hyperactivity, Bilateral tonic-clonic seizure, Infantile ... ORPHA:485350
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Inability to walk, Ragged-red mus... ORPHA:276435
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hepatic steatosis, Diabetes mellitus, Lipodystrophy, Insulin resistance,... OMIM:615980
Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Corpus callosum atrophy, Phonic tics, Seizure... OMIM:301107
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Fatigue, Exercise intolerance, Ataxia, Increased adipose tissue, Congestive heart failure, Ragged... ORPHA:1349
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Pure Mitochondrial Myopathy
Waddling gait, Exercise intolerance, Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis... ORPHA:254854
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Slender build, Chorea, Generalized... OMIM:617600
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Hypotonia, Choreoath... OMIM:301020
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, D... OMIM:618276
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Joubert Syndrome 25
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:616781
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Osteoporosis, Thrombocytopenia, Decreased body weight OMIM:613606
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Axial hypotonia, Hypoglycemia, Generalized clonic seizure, Seizure... ORPHA:289504
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Abnormal pyra... ORPHA:453533
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... ORPHA:93256
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Loss of ambula... OMIM:253601
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxia, Axial hypotonia, Hypog... OMIM:617710
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Myalgia, Muscle fiber cytoplasmat... OMIM:609200
Myofibrillar Myopathy 11
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Dysphagia, Cal... OMIM:619178
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Spastic paraplegia, Dystonia OMIM:619681
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypotonia, Bruxism, Choreo... ORPHA:561854
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Epileptic spasm, Ataxia, Atrophy/Degeneration affecting the brainstem, Spasti... OMIM:619971
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Multiple System Atrophy, Cerebellar Type
Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sig... ORPHA:227510
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Failure to thrive, Small for gesta... OMIM:214150
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Seizure, Limb dystonia ORPHA:306741
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Axial hypotonia, Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure... OMIM:619150
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Seizure, Focal hemifacial clonic seizure, Writer's cramp ORPHA:163727
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli... OMIM:619389
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Status epileptic... ORPHA:99802
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myo... OMIM:606777
Hemochromatosis, Type 4
Fatigue, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Glucose int... OMIM:606069
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:618234
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced myalgia, Limb muscle weakness, Myalgia, Exercise-induced muscle fatigue ORPHA:45
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... ORPHA:95434
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Stormorken Syndrome
Increased muscle fatiguability, Epistaxis, Subarachnoid hemorrhage, Asplenia, Myopathy, Myalgia, ... OMIM:185070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Depression, Hemiparesis, Gait ataxia, Irritability, Myoclonus OMIM:123400
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Ataxia, Hypotonia, Cerebral atrophy, Seizure, Myoclonus, Spasticity, Failure to thrive OMIM:612015
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... OMIM:612736
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Classic Galactosemia
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Incoordination, Ataxia, Postural tre... ORPHA:79239
Postencephalitic Parkinsonism
Resting tremor, Abnormal substantia nigra morphology, Involuntary movements, Akinesia, Rigidity, ... ORPHA:97349
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:98933
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy... OMIM:610217
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Failure to thrive, Pulmonary arterial hypertension OMIM:616045
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Myalgia, Difficulty walki... ORPHA:369847
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Tremor, Ov... ORPHA:457240
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Hy... OMIM:616421
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Hypoglycemia, Hypotonia, Seizure, Abnormality of extrapyramidal motor functio... OMIM:614739
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Exercise Intolerance, Riboflavin-Responsive
Exercise intolerance, Ragged-red muscle fibers OMIM:616839
Ceroid Lipofuscinosis, Neuronal, 3
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... OMIM:204200
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... ORPHA:563
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
Continuous Spikes And Waves During Sleep
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic s... ORPHA:725
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Axial hypotonia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic s... OMIM:620145
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibra... OMIM:258450
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Cachexia, Tremor, Chore... OMIM:618093
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Skeletal mus... OMIM:613877
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Reactive hypoglycemia, Fasting hyperinsulinemia, Generalized non-motor... ORPHA:35878
Parkinsonian-Pyramidal Syndrome
Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki... ORPHA:171695
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Exercise intolerance, Rhabd... ORPHA:228305
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy OMIM:551500
Polymyositis
Myocardial infarction, Anorexia, Arthralgia, Fatigue, Hepatomegaly, Abdominal pain, Dilated cardi... ORPHA:732
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... ORPHA:79083
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Obesity, Myocardial infarction OMIM:615703
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardiomyopathy, Failure to ... OMIM:618235
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Dysph... OMIM:619565
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, Typical abs... ORPHA:208447
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... ORPHA:363710
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Dyspha... OMIM:181400
Muscle Filaminopathy
Back pain, Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeleta... ORPHA:171445
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... OMIM:613280
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Epilepsy, Nocturnal Frontal Lobe, 4
Nocturnal seizures, Dystonia OMIM:610353
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Hypotonia, Se... ORPHA:382
Raynaud-Claes Syndrome
Lower limb spasticity, Aggressive behavior, Hypotonia, Cerebral atrophy, Depression, Seizure, Pro... OMIM:300114
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Fatigue, Arthrogryposis multiplex congenita, Failure to thrive, Falls OMIM:616326
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, My... OMIM:159950
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Neuroferritinopathy
Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Brad... ORPHA:157846
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Welander Distal Myopathy
Distal amyotrophy, Steppage gait, Rimmed vacuoles OMIM:604454
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens... ORPHA:86909
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Spasticity... OMIM:619847
Congenital Heart Block
Fatigue, Exercise intolerance, Cyanosis, First degree atrioventricular block, Gallop rhythm, Peri... ORPHA:60041
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Hypotonia, M... OMIM:617389
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Comedonal acne, Iris coloboma OMIM:615147
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Hypotonia, Seizure, Decreased liver function, Spasticity, Failure to thrive ORPHA:67048
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl... OMIM:619065
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypotonia, Obesity, Limb dystonia OMIM:620270
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Hypotonia, Seizure, Progressive cerebellar a... ORPHA:139485
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... ORPHA:330001
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring cont... OMIM:300696
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharospasm, Slowed slur... ORPHA:240071
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... ORPHA:2348
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor... OMIM:617493
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkineti... OMIM:618425
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Autosomal Recessive Spastic Paraplegia Type 56
Babinski sign, Spastic paraplegia, Spastic gait, Dystonia ORPHA:320411
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Combined Oxidative Phosphorylation Defect Type 39
Abnormal circulating enzyme concentration or activity, Abnormal cerebellum morphology, Congenital... ORPHA:565624
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... OMIM:212140
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Multifocal seizures, Axial hypotonia, Clonus, Focal motor status epilepticus, Ri... OMIM:614498
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Hemolytic-uremic syndrome, Oste... OMIM:614727
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Hypotonia, Seizure, Self-injurious behavior, Dystonia, Spasticity, Abnorma... OMIM:617820
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Atypical Rett Syndrome
Restrictive behavior, Neonatal hypotonia, Dystonia, Involuntary movements, Infantile spasms, Trem... ORPHA:3095
Hsd10 Disease
Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Frontotemporal cerebral atrophy, M... ORPHA:391417
Mepan Syndrome
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Cerebral a... ORPHA:508093
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Rigidity, Tremor, Bradykinesia, Limb hypertonia ORPHA:70594
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Hypothyroidism, Abnormal ren... OMIM:610883
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Elevated hepatic transaminase, Dilated cardiomyopathy, Unsteady gait, Myopathy, Li... OMIM:612937
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Hypoglycemia, Hypogonadotropic hypogonadism, Abnormal pyramidal ... ORPHA:48431
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Abnormal pyram... OMIM:612016
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Myopathy, Arthralgia, Hepatic steatosis ORPHA:79087
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia, Seizure OMIM:611147
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Cerebellar hypoplasia, Bradycardia, Dysphagia,... OMIM:616276
D-Glyceric Aciduria
Axial hypotonia, Bilateral tonic-clonic seizure, Hypoglycemia, Tongue thrusting, Spastic tetraple... OMIM:220120
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr... OMIM:602390
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Flexion contracture, Spastic tetraplegia, Irr... OMIM:618237
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... ORPHA:330050
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Developmental And Epileptic Encephalopathy 92
Ataxia, Seizure, Myoclonus, Dystonia, Spasticity OMIM:617829
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Neuronal loss in central ner... ORPHA:683
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... OMIM:246700
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:619090
Myopathy, Distal, Tateyama Type
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... OMIM:614321
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Bradykinesia, Gait ataxia, Gait ... ORPHA:225147
Developmental And Epileptic Encephalopathy 1
Axial hypotonia, Dystonia, Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset sei... OMIM:308350
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Generalized... ORPHA:98763
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Focal-onset seizure, Hypotonia, Seizure, Brain atrophy, Dystonia, Refractory status epilepticus OMIM:620359
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... ORPHA:101109
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-g... OMIM:616812
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Generalized hypotonia, ... ORPHA:845
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Dysphagia, Dystonia OMIM:108600
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur ORPHA:3400
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Increased muscle fatiguability, Weakness of facial musculature, Facial palsy, Dysphagia OMIM:616323
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... OMIM:607346
Xp21 Deletion Syndrome
Increased muscle fatiguability, Decreased muscle mass, Finger clinodactyly, Calf muscle hypertrop... ORPHA:261476
Corticosteroid-Binding Globulin Deficiency
Increased muscle fatiguability, Fatigue, Hypertension, Asthenia, Hypotension OMIM:611489
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Fatigue, Hypoglycemia, Sudd... ORPHA:156
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... ORPHA:204
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Seizure, Generalized hypotonia, Dystonia OMIM:616763
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:91130
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy ORPHA:206546
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonu... ORPHA:2382
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Increased connective tissu... OMIM:601954
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Leigh Syndrome
Ataxia, Hypotonia, Hepatocellular necrosis, Seizure, Gliosis, Generalized hypotonia, Dystonia, Em... OMIM:256000
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino... OMIM:610198
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Cerebral atrophy, Seizure, Generalized hypotonia, Dystonia, Spasticity OMIM:617899
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... ORPHA:79084
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Clonus, Hypotonia, Seizure, Athetosis OMIM:266150
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Hypotonia, Depression, Seizure, Tru... OMIM:300957
Bardet-Biedl Syndrome 16
Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Babinski sign, Spastic paraplegia, Dystonia OMIM:615030
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Developmental And Epileptic Encephalopathy 7
Seizure, Hypotonia, Spastic tetraparesis, Dystonia OMIM:613720
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis, Weight loss ORPHA:930
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait a... ORPHA:254881
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability, Abnormal circulating enzyme concentration or activity, Fish odor ORPHA:243343
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized... OMIM:614487
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Congestive heart failure, Ragged-red muscle fibers, Abdominal pain OMIM:616794
Huntington Disease-Like 2
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Dystonia, Cerebral cor... ORPHA:98934
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper... OMIM:619191
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98855
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Exercise intolerance, Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial p... OMIM:616209
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia, Hypotonia, Seizure, Generalized hypotonia OMIM:614741
Rasmussen Subacute Encephalitis
Subcortical cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure with generalized onse... ORPHA:1929
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Adiposis Dolorosa
Fatigue, Painful subcutaneous lipomas, Chronic pain, Obesity, Depression, Arthralgia OMIM:103200
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, D... ORPHA:266
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Pyridoxal Phosphate-Responsive Seizures
Axial hypotonia, Hypoglycemia, Seizure, Hypertonia, Status epilepticus, Myoclonus, Failure to thr... ORPHA:79096
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Babinski sign, Hypotonia, Dysphagia, Seizure, Irrita... OMIM:264470
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Cryptorchidism, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Pleural Mesothelioma
Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Abnormal cardiovascular syste... ORPHA:50251
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ... ORPHA:2414
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Nemaline Myopathy 5C, Autosomal Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakne... OMIM:620389
Benign Familial Infantile Epilepsy
Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple... ORPHA:306
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Cerebr... ORPHA:442835
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypotonia, Myoclonic seizure, Irri... OMIM:617290
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Preeclampsia
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr... ORPHA:275555
Striatonigral Degeneration, Childhood-Onset
Hypotonia, Dysphagia, Ankle clonus, Hypertonia, Dystonia, Craniofacial dystonia OMIM:617054
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Aggressive behavio... ORPHA:905
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Moynahan Syndrome
Cachexia ORPHA:2574
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Difficulty walking ORPHA:171442
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Failure to thrive OMIM:269920
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Fatigue, Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Limb ... OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Elbow flexion contracture, Knee flexion contracture, Myoclonus, Neonatal hypo... OMIM:619303
Leukoencephalopathy With Vanishing White Matter 1
Decreased circulating progesterone, Hypotonia, Seizure, Primary gonadal insufficiency, Gliosis, G... OMIM:603896
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Axial hypotonia, Infantile spasms, Cerebral atrophy, Seizure, Athetosis, Irri... OMIM:617132
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizu... ORPHA:313772
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Congestive heart failure, Adipose tissue loss, In... ORPHA:528
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy OMIM:613313
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Depression, Progressive cerebellar a... OMIM:604326
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Cardiomyopathy, ... ORPHA:399086
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O... ORPHA:79102
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Small for gestational age, Cerebellar g... ORPHA:79243
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal musc... OMIM:608358
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... OMIM:619386
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Chorea, Dysphagia, Opisthotonus, Seizure, Congenital contracture, Gliosis, Extrapyr... OMIM:277470
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Exercise intolerance, Ataxia, Ragg... OMIM:616479
Mitochondrial Complex I Deficiency, Nuclear Type 33
Axial hypotonia, Hypoglycemia, Small for gestational age, Seizure, Irritability, Status epileptic... OMIM:618253
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... ORPHA:673
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-... OMIM:618917
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Atransferrinemia
Congestive heart failure OMIM:209300
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Dystonia OMIM:619661
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy... ORPHA:251282
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Delayed puberty... OMIM:616834
Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98853
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Recurrent pneumonia, Optic atrophy, Rod-cone dystrophy, Retinal degenera... OMIM:602271
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Cerebral atrophy, Seizure, Hypertonia, Distal arthrogryposi... OMIM:618011
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Fatigue, Ventricular septal defect, Ele... OMIM:614921
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Elevated hepatic transaminase, Bradycardia, Decreased liver function, Pulmona... OMIM:616299
3-Methylcrotonyl-Coa Carboxylase Deficiency
Spasticity, Hypoglycemia, Hypotonia, Failure to thrive in infancy ORPHA:6
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith... ORPHA:448237
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Gliosis, Neur... OMIM:604218
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Tremor, Hyperinsulinemia,... ORPHA:263455
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Cerebellar atrophy, Decreased level of coenzyme Q10 in skeletal mus... OMIM:614654
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Focal dystonia, Depression, Progressive cerebellar ataxia, Gait at... OMIM:605361
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration OMIM:146500
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... OMIM:167320
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Hypotonia, Dysmetria, Cerebra... OMIM:618088
Refractory Celiac Disease
Villous atrophy, Malabsorption, Lymphoma, Protein-losing enteropathy, Jejunitis ORPHA:398063
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma... ORPHA:306682
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Atrophy/Degeneration affecti... OMIM:616277
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Clonus, Hypoglycemic seizures, Hypertonia, Ataxia, Seizure, Compensated hypothyroidism, Global br... ORPHA:480864
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait OMIM:619966
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Ataxia, Inability to walk, Congestive hear... ORPHA:70472
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, L... OMIM:603552
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Myopathy, Myofibrillar, 5
Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... OMIM:609524
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... OMIM:606703
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m... OMIM:615418
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration... OMIM:261680
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemi... ORPHA:230
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Increased intraabdominal fat, Hepatic steatosis, Muscl... ORPHA:280365
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Scapular winging, Tricuspid regurgitation, Fatigue, Centrally nuc... OMIM:620351
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait OMIM:168605
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Cog8-Cdg
Elevated hepatic transaminase, Cerebellar atrophy, Ataxia, Hypoglycemia, Atrophy/Degeneration aff... ORPHA:95428
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Axial hypotonia, Focal-onset seizure, Chorea, Self-injurious behavior, Convulsive status epilepti... OMIM:618760
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98863
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Small for gestational ... ORPHA:289266
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Axial hypotonia, Ataxia, Generalized dystonia, Infantile spasms, Aggressive behavior, Chorea, Spa... OMIM:618321
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Myoclonus OMIM:102300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Tremor, Hypotonia, Seizure, Hypogonadism, Myoclonus, Dysph... ORPHA:97229
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Gene... OMIM:617391
Cholangiocarcinoma
Fatigue, Anorexia, Abdominal pain, Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Gliosis, Central diabetes insipidus OMIM:125700
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hyperactivity, Bradycardia OMIM:609924
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Epiphyseal Dysplasia, Multiple, 2
Waddling gait, Fatigue, Broad-based gait, Tibial torsion, Short palm, Knee pain, Foot pain, Genu ... OMIM:600204
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Cerebellar atrophy, Hypothyroidism, Abnormal pyramidal sign, Hypot... ORPHA:445038
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Hypotonia, Dysmetria, Seizure, Irritability, Myoclonus, Trunca... OMIM:250620
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... ORPHA:251004
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Inflammatory abnormality of t... ORPHA:816
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... OMIM:601005
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Seizure, Hyperlipidemia, Hypoglycemia, Hypotonia ORPHA:364
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Hypotonia, Cerebral atrophy, Opisthotonu... OMIM:616271
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... OMIM:617182
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Seizure, Recurrent hypoglycemia, Generalized hypotonia, Gait ataxia OMIM:618158
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Babinski sign, Flexion contract... OMIM:618404
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria,... OMIM:617916
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atriove... OMIM:310300
Adult Krabbe Disease
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, So... ORPHA:206448
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Fatty replacement of skeletal muscle, Congestive heart failure, Hip pain, Cardiomy... ORPHA:52430
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive OMIM:620357
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Abnormal pyramidal sign, Dystonia OMIM:619196
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue, Failure to thrive, Gait disturbance, Anorexia ORPHA:79283
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Small for gestational age, Hypotonia, Seizure, Dystonia, Spasticity, Failure to thrive OMIM:614702
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Chorea, Dysmetria, Gait ataxia, Dysdi... ORPHA:251347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Inability to walk, Flexion contracture, Abnormal left... OMIM:613155
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni... OMIM:614820
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Generalized non-motor (... OMIM:619157
Childhood-Onset Nemaline Myopathy
Waddling gait, Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipi... ORPHA:171439
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depress... OMIM:619738
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Dystonia 28
Torticollis, Generalized dystonia, Precocious puberty, Abnormal pyramidal sign, Leg dystonia, Dep... ORPHA:589618
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Dpm3-Cdg
Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Chest pain, Muscu... ORPHA:263494
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Dysphagia, Spasticity, Failure to thrive OMIM:271930
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Joubert Syndrome 31
Molar tooth sign on MRI, Oculomotor apraxia, Truncal ataxia OMIM:617761
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Reduced systolic function, Failure to thrive in infancy, Dilated ... OMIM:618805
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Chorea, Abnormal pyramidal sign, Cereb... ORPHA:500180
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Ataxia, Hypotonia, Cerebral atrophy, Obesity, Seizure, Generalized hypoton... OMIM:616756
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Peho-Like Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypotonia, Status epilepticus, Myoclonus, Neo... OMIM:617507
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Glucose intolerance, Abnormali... ORPHA:254892
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... OMIM:205100
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Seizure, Myoclon... OMIM:312170
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Rhabdomyolysis, Exercise-induced myalgia, Myopathy, Exercise-induced muscle fatigue ORPHA:713
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Aggressive behavior, Babinski sign, Hypotonia, Dysmetria, Seizure, Dy... OMIM:618356
Developmental And Epileptic Encephalopathy 71
Seizure, Gliosis, Hypotonia OMIM:618328
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... OMIM:254110
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Di... OMIM:619903
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... OMIM:618141
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia, Rigidity, Spastic diplegia, Hypotonia, Opisthotonus, Choreoathetosis,... OMIM:231670
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal... ORPHA:457050
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Seizure, Decreased body weight, Neonatal hypoglycemia ORPHA:231140
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Neutral Lipid Storage Myopathy
Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc... ORPHA:98908
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Ragged-red muscle fibers, Gene... OMIM:613561
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Rhabdomyolysis, Myalgia, Exercise-induced muscle fatigue ORPHA:2364
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
16P11.2P12.2 Microduplication Syndrome
Seizure, Attention deficit hyperactivity disorder, Dystonia ORPHA:261204
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Hypotonia, Choreoatheto... ORPHA:726
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age... OMIM:616366
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Failure to thriv... OMIM:607765
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Facial hypotonia, Overweight, Babinski sign, Hypotonia, Spastic dysarthria, S... ORPHA:280763
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Narp Syndrome
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi... ORPHA:644
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Seizure, Irritability, Glyco... ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Bilateral tonic-clonic seizure, Severe muscular hypotonia, Microvesicular hep... OMIM:616672
Benign Familial Neonatal Epilepsy
Axial hypotonia, Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Fo... ORPHA:1949
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Facial palsy, Flexion contracture, Dysphagia, Shoulder girdle muscle weakness, Mya... OMIM:603511
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Prolonged neonatal j... ORPHA:95717
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, C... ORPHA:168491
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Gliosis, Arthrogrypo... OMIM:615095
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Hypoglycemia, Seizure, Ge... ORPHA:2394
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Generalized hypotonia, Dysphagia, Fail... OMIM:618958
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Hypotonia, Obesity, Glucose intolerance, Attention deficit hyperactivity disord... ORPHA:369873
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Rigidity, Opisthotonus, Depression, Myoclonic sp... OMIM:184850
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Bardet-Biedl Syndrome 4
Cryptorchidism, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatic fibrosis OMIM:232400
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Impulsivity, Rigidity, Dysphagia, Depression, Bradykinesia, Weight ... ORPHA:411602
Babesiosis
Fatigue, Hepatomegaly, Myocardial infarction, Anorexia, Splenomegaly, Congestive heart failure, J... ORPHA:108
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Abnormal metacarpophalangeal jo... ORPHA:465508
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Axial hypotonia, Choreoathetosis, Irritability, Dystonia, Spasticity OMIM:614249
Proximal Spinal Muscular Atrophy
Fatigue, Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Inabil... ORPHA:70
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis... ORPHA:264580
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Merrf
Myopathy, Ragged-red muscle fibers, Ataxia, Multiple lipomas ORPHA:551
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... OMIM:271150
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Lymphoma, Malabsorption ORPHA:100025
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Athetosis, Complex ... ORPHA:31709
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Failur... OMIM:266510
Spinocerebellar Ataxia 13
Cerebellar atrophy, Abnormal pyramidal sign, Hypotonia, Limb ataxia, Gait ataxia, Progressive cer... OMIM:605259
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg... ORPHA:507
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Right ventricular dilatation, Myopath... ORPHA:369840
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Choreoathetosis, Self-injurious behavior, Hyperkinetic movements, ... OMIM:618218
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... ORPHA:99901
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy,... ORPHA:263516
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Hypotonia, Cerebral atr... OMIM:256600
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Axial hypotonia, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:245400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hypergonadotropic hypogonadism, Parkinsonism, Impaired distal proprioception, Rig... OMIM:157640
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
2P21 Microdeletion Syndrome
Hypoglycemia, Hypotonia, Seizure, Hypogonadism, Failure to thrive ORPHA:163693
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Failure to thrive, Multifocal seizures, Clonus, Infantile spasms, Involu... OMIM:620352
Mitochondrial Trifunctional Protein Deficiency
Exercise intolerance, Rigors, Tricuspid regurgitation, Failure to thrive in infancy, Equinus calc... ORPHA:746
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Limb joint contracture, Rigidity, Chorea, Babinski sign, Hypotonia... OMIM:617282
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot... OMIM:619301
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Osteoporosis, Increase... OMIM:615830
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Babinski sign, Seizure, Disinhibition, Myoclonus, Apraxia, Cerebral cortical atr... OMIM:618193
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Landau-Kleffner Syndrome
Gait ataxia, Non-convulsive status epilepticus without coma, Hyperactivity, Bilateral tonic-cloni... ORPHA:98818
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... ORPHA:309246
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis, Hepatic steatosis, Hypotonia OMIM:615119
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neut... ORPHA:79312
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Meckel Syndrome 13
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:617562
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Flexion contracture, Status epilepticus, Myoclonus, Spastic... OMIM:618201
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... OMIM:219080
Joubert Syndrome 4
Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thic... OMIM:609583
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dy... OMIM:612716
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Flexion contracture, Hypot... OMIM:616505
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Spastic tetraplegia, Choreoathetosis, Seizure, Aplasia of the left hemidiaphragm... OMIM:618238
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Centrally nucleated skeletal muscle fibers, Abdominal pain, Limb-girdle muscle wea... ORPHA:86812
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Calf muscle pseudohypertrophy, Hy... ORPHA:370959
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Irritability, H... OMIM:233910
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Optic atrophy, Abnormal mitochondrial morphology, Cerebral... ORPHA:99013
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypospadias, Increased circulating farnesol concentration, Bilatera... OMIM:618156
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen... OMIM:601104
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia, Spasticity OMIM:620094
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni... OMIM:615851
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Hypotonia OMIM:616111
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Caudate atrophy, Chorea, Abnormal pyramidal s... ORPHA:157946
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... OMIM:151660
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Babinski sign, Flexion contracture, Seizure, Myoclonus, Truncal ataxia, Neonata... OMIM:252011
Paroxysmal Extreme Pain Disorder
Tachycardia, Ocular pain, Anal pain, Bradycardia, Mandibular pain OMIM:167400
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Hypot... OMIM:614946
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Fatigue, Ataxia, Diabetes mellitus... ORPHA:98673
Myoclonus, Intractable, Neonatal
Clonic seizure, Chorea, Hypotonia, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation OMIM:617235
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia OMIM:611031
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
Galactokinase Deficiency
Speech apraxia, Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Small for gestational... ORPHA:79237
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Distal Myotilinopathy
Multiple joint contractures, Loss of ability to walk in first decade, Cardiomyopathy, Distal amyo... ORPHA:98911
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Skeletal muscle atrophy, Inguinal hernia, Bradycardia, Pulmonary arterial hyp... OMIM:619272
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega... ORPHA:435660
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617950
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Seizure, Athetosis, Dystonia, Focal sensory seizure ORPHA:98809
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen OMIM:608895
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... OMIM:612526
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Ankle clonu... OMIM:607565
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuolar degeneration, ... OMIM:609454
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Hypotonia, Seizur... OMIM:612936
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Arthrogryposis multiplex congenita, Myoclonus ORPHA:166063
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Hepatomegaly, Axial hypotonia, Ataxia, Babinski sign, Hypotonia, Dysphagia, S... OMIM:618226
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Sudden death, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Fatigue, Ataxia, Inability to walk, Dysmetria, Gait... OMIM:614831
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Involuntary movements, Parkinsonism, Writer's cramp, Rig... ORPHA:98759
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Takayasu Arteritis
Abnormal endocardium morphology, Fatigue, Gangrene, Abnormal heart valve morphology, Myocardial i... ORPHA:3287
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Leukopenia, Bone marrow hypocellula... OMIM:619151
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability, Fish odor OMIM:605850
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Insulin-resistant diabetes mellitus, Dysto... ORPHA:401768
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... ORPHA:49827
Inclusion Body Myositis
Inflammatory myopathy, Dysphagia, Rimmed vacuoles OMIM:147421
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Seizure, Status epilepticus... ORPHA:168486
Tenorio Syndrome
Hypoinsulinemia, Cerebral palsy, Hypoglycemia, Hypotonia, Clumsiness, Seizure, Emotional lability... OMIM:616260
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Hypotonia, Spasticity, Seizure, Ge... ORPHA:363717
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot... OMIM:619302
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... OMIM:602066
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia OMIM:118800
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Fatigue, Skeletal muscle atrophy, Tachycardia, Exercise intolerance, Glycogen accumulation in mus... ORPHA:368
Dpm1-Cdg
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Sandal gap, Knee flexion... ORPHA:79322
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Cerebral atrophy, Dystonia OMIM:610181
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:613027
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ataxia, Clonus, Hypoglycemia, Oral-pharyngeal dysphagia, Premature... OMIM:616878
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypotonia, Focal impaired awaren... OMIM:615859
Spastic Paraplegia 26, Autosomal Recessive
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Upper limb spasticit... OMIM:609195
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... OMIM:617760
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Hypotonia, Dysmetria, S... OMIM:617954
Joubert Syndrome 33
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:617767
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Achilles tendon... ORPHA:353
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Ataxia, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor funct... OMIM:618224
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Cyanotic episode, Myoclonus OMIM:610992
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Inguinal hernia, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber mo... OMIM:175700
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Functional abnorm... ORPHA:90362
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:1466
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidit... OMIM:618090
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... ORPHA:314603
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hern... ORPHA:226313
Macrophagic Myofasciitis
Fatigue, Arthralgia, Myalgia ORPHA:592
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Hartnup Disorder
Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Em... OMIM:234500
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Corpus callosum atrophy, Athetosis, Te... OMIM:619310
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty... OMIM:607682
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Reduction of oligodendroglia, Tremor, Head titubati... OMIM:312080
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Recurrent hypoglycemia, Gliosis, Generalized hypot... OMIM:124000
Allan-Herndon-Dudley Syndrome
Axial hypotonia, Ataxia, Abnormality of thyroid physiology, Small for gestational age, Failure to... ORPHA:59
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosis, Seizure, Irritability, Dystonia OMIM:612126
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske... OMIM:619733
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Jaundice, Fulminant hepatitis, Type I diabe... OMIM:618549
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Elbow flexion contracture, Hypo... OMIM:619470
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, High palate, Bifid uvula OMIM:601110
Propionic Acidemia
Hepatomegaly, Axial hypotonia, Hypoglycemia, Cerebral atrophy, Seizure, Dystonia, Failure to thri... OMIM:606054
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Babinski sign, Ton... OMIM:608643
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Hepatomegaly, Hypotonia, Cerebral atrophy, Gliosis, Brain atrophy, Limb dysto... OMIM:604377
Dystonia 26, Myoclonic
Torticollis, Depression, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Car... OMIM:201475
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Cerebral atrophy,... OMIM:611890
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo... ORPHA:420492
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... OMIM:613845
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Left-to-right shunt, Ventricular septal d... ORPHA:99050
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... ORPHA:185
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Hypotonia, Opisthotonus, Acute hepatic steatosis, Seizure, Generalized hypotonia, F... OMIM:210200
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Seizure, Paroxysmal choreoathetosis, Infantile spasms OMIM:128200
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat... OMIM:619913
Leigh Syndrome
Multiple joint contractures, Chorea, Choreoathetosis, Gliosis, Ataxia, Seizure, Athetosis, Cerebe... ORPHA:506
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Hb Bart'S Hydrops Fetalis
Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly ORPHA:163596
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Adenylosuccinase Deficiency
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Hypotonia, Cerebral atrophy, Opisthotonus... OMIM:103050
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:271245
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Fatigue, Anorexia, Weight loss ORPHA:2023
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Familial Atrial Fibrillation
Exercise intolerance, Fatigue, Atrial fibrillation, Myocardial infarction, Syncope, Chest pain, P... ORPHA:334
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Hypotonia, Hepatosplenomegaly, Generalized hypotonia, Dystonia, Sp... OMIM:610329
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cram... OMIM:128100
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Dystonia, Ataxia, Clonic seizure, Hypotonia, Gait ataxia, Seizure, Truncal... OMIM:614458
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Hypotonia, Seizure, Athetosis, Self-injurious be... OMIM:619922
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Ataxia, Fatigue, Myocardial in... ORPHA:3452
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hypotonia, Increased hepatic glycogen content OMIM:261750
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Insulin-resistant diab... ORPHA:435651
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Dysphagia, EMG... OMIM:608423
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... OMIM:300718
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Glutamine Deficiency, Congenital
Micromelia, Flexion contracture, Lateral ventricle dilatation, Bradycardia, Camptodactyly OMIM:610015
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:613752
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Exercise intolerance, Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atro... ORPHA:254875
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, T... OMIM:609285
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Small for gestational age, Babinski sign, Hypotonia, Choreoathetosis, Limb d... OMIM:619054
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonis... ORPHA:300605
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Hypotonia, Seizure, Cholestatic liver disease, Generalized hypotonia,... ORPHA:5
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca... ORPHA:59135
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Seizure, Ataxia, Dysphagia, Dystonia ORPHA:1171
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Puberty and gonad... ORPHA:464282
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST... OMIM:261740
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... OMIM:253250
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Thrombocytopenia ORPHA:1980
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, G... OMIM:271980
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Nephronophthisis 15
Retinal degeneration OMIM:614845
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre... OMIM:613677
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... ORPHA:94080
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Christianson Syndrome
Cerebellar atrophy, Generalized-onset seizure, Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, ... ORPHA:85278
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Weight loss ORPHA:79238
Idiopathic/Heritable Pulmonary Arterial Hypertension
Fatigue, Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Gliosis, Hepatomegaly, Micronodular cirrhosis, Corneal ... ORPHA:404454
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... OMIM:256810
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Generalized non-motor (absence) seizure, Seizure, Delay... OMIM:616033
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Frontotemporal cerebral... ORPHA:79097
Hereditary Methemoglobinemia
Cerebellar atrophy, Cyanosis, Small for gestational age, Spastic tetraplegia, Temporal cortical a... ORPHA:621
Methylmalonic Acidemia With Homocystinuria
Fatigue, Failure to thrive, Gait disturbance ORPHA:26
Sengers Syndrome
Fatigue, Exercise intolerance, Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial... OMIM:212350
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Small for gestational age, Failure to thrive in infancy, Poor coordination, A... OMIM:618891
Microcephaly, Amish Type
Hepatomegaly, Axial hypotonia, Flexion contracture, Irritability, Myoclonus, Failure to thrive, L... OMIM:607196
Pontocerebellar Hypoplasia, Type 9
Axial hypotonia, Facial hypotonia, Clonus, Dysphagia, Seizure, Irritability, Hypertonia, Dystonia... OMIM:615809
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Portal hypertension, Abdominal pain, Splenome... ORPHA:1414
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Fatigue, Impulsivity, Tapered finger, 2-3 toe syndactyly, Increased body weight, Gait disturbance... ORPHA:589905
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Desmoplastic Small Round Cell Tumor
Neoplasm of the lung, Hepatomegaly, Cachexia, Weight loss ORPHA:83469
Joubert Syndrome 27
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Gait ataxia OMIM:617120
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels OMIM:204000
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Increased variability in muscle fiber diamet... OMIM:619473
Classic Multiminicore Myopathy
Right ventricular failure, Congestive heart failure, Mitral valve prolapse, Failure to thrive, Ri... ORPHA:324604
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Brain atrophy, Spasticity OMIM:618225
Pontiac Fever
Fatigue, Myalgia ORPHA:99748
Ravine Syndrome
Decreased body weight, Ataxia, Anorexia, Abnormal brainstem morphology, Atrophy/Degeneration affe... ORPHA:99852
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, Ataxia, Tremor, Bruxism, Cerebral atrophy, Dysphagia, Choreoathetosis, Seizure, ... OMIM:619422
Autosomal Dominant Optic Atrophy Plus Syndrome
Fatigue, Diabetes mellitus, Ataxia, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy ORPHA:1215
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... OMIM:615996
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia OMIM:615010
Spastic Paraplegia 47, Autosomal Recessive
Overweight, Babinski sign, Spastic paraplegia, Flexion contracture, Seizure, Hypertonia, Dystonia... OMIM:614066
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Axial hypotonia, Ataxia, Athetosis, Abnormality of extrapyramidal motor function, D... OMIM:615159
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop... ORPHA:79432
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Irritability OMIM:300816
Mitochondrial Complex I Deficiency, Nuclear Type 31
Hypotonia, Dysmetria, Seizure, Myoclonus, Failure to thrive OMIM:618251
Becker Muscular Dystrophy
Elevated hepatic transaminase, Skeletal muscle atrophy, Exercise intolerance, Fatigue, Tip-toe ga... ORPHA:98895
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Central hypot... OMIM:616113
Overlap Myositis
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Subluxation of the small ... ORPHA:206572
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... ORPHA:96
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... OMIM:619616
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Small for gestational age, Myoclonus, Cerebral atrophy OMIM:619057
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Increased circulating ACT... OMIM:614736
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Graves Disease, Susceptibility To, 1
Congestive heart failure, Weight loss OMIM:275000
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Seizure, Hypoglycemia, Hypotonia OMIM:610006
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... OMIM:617397
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Limb joint contracture, Failure to thrive in infancy, Spastic tetraparesis, Ankl... ORPHA:284417
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Fatigue, Anorexia, Abdominal pain, Jaundice, Weight loss, Acholic ... ORPHA:65682
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... ORPHA:75840
Congenital Myopathy 2A, Typical, Autosomal Dominant
Waddling gait, Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber pr... OMIM:161800
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking, Increased se... ORPHA:778
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Glycogen Storage Disease Ixd
Exercise intolerance, Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fibe... OMIM:300559
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Insulin resistance, Insulin-resi... ORPHA:79086
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Hammertoe,... OMIM:608340
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss ORPHA:2198
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Hypergonadotropic hypogonadism, Proteinuria, Abnormal subcutaneous fat ... OMIM:212065
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... ORPHA:96180
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Rheumatic Fever
Fatigue, Pericarditis, Abnormal heart valve morphology, Epistaxis, Anorexia, Abdominal pain, Myoc... ORPHA:3099
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Partington Syndrome
Lower limb spasticity, Infantile spasms, Flexion contracture, Focal dystonia, Seizure, Limb dysto... OMIM:309510
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... OMIM:605637
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Hyperactivity, Ventricular septal defe... ORPHA:254346
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Seizure, Gliosis OMIM:613002
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fas... ORPHA:276198
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased m... OMIM:500009
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Decreased response to growth hormone stimulation test, Hypogonadotrop... ORPHA:289494
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Cednik Syndrome
Congestive heart failure ORPHA:66631
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia ORPHA:90037
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fatigue, Hepatomegaly, Anorexia, Splenomegaly, Weight loss ORPHA:86893
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Nephrogenic diabetes insipidus, Hypotonia, Cerebral atrophy, Seizure, ... OMIM:620167
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myelin-dependent gliosis, Generalized hypotonia, Dysphagia OMIM:201550
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Irritability, Hypertonia, Dy... OMIM:619071
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Foot joint contracture, Cerebral atrophy, Irritability, Dystonia,... ORPHA:457205
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Abnormal repetitive mannerisms, Generalized non-motor (absence) seizure, Hypoto... ORPHA:411986
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Hypotonia, Gliosis, Glycosuria, Neonatal death, Hepatic per... OMIM:231680
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Rigidity, Emotional lability, Hypothyroidism ORPHA:3198
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Irritability, Hypertonia, Myoclonus,... ORPHA:401866
Joubert Syndrome 28
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:617121
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Abnormal pyramidal sign, Tetraplegia, Cerebral atrophy, Seizure, Dystonia, Fa... OMIM:300475
Mcdonough Syndrome
Cachexia ORPHA:2471
Wolman Disease
Splenomegaly, Hepatomegaly, Cachexia ORPHA:75233
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Inguinal hernia, Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizur... OMIM:613970
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Flexion contracture, Dysphagia, Dystonia, Generalized myoclonic seizu... ORPHA:77260
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Flexion contracture, Hypotonia, Spasticity, Irritability, Generalized hy... OMIM:619224
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Blepharospasm, Weight loss, Hy... ORPHA:93958
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Severe muscul... ORPHA:25
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:278000
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Abnormal brainstem morphology, Telangiectasia, Generali... ORPHA:79279
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Babinski sign, Dysphagia, Seizure, Abnormality of extrapyramidal ... OMIM:607822
3-Methylglutaconic Aciduria, Type I
Ataxia, Spastic tetraplegia, Spasticity, Cerebral atrophy, Athetosis, Dystonia, Febrile seizure (... OMIM:250950
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia ORPHA:3327
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Thyroid Hemiagenesis
Fatigue, Macroglossia, Jaundice, Umbilical hernia ORPHA:95719
Developmental And Epileptic Encephalopathy 17
Chorea, Focal tonic seizure, Cerebral atrophy, Athetosis, Dystonia, Generalized tonic seizure OMIM:615473
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Pulmonary arterial hypertension OMIM:619751
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Axial hypotonia, Spastic tetraplegia, Cerebral atrophy, Seizure, Irritability... OMIM:619125
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Glossopharyngeal Neuralgia
Episodic pain, Oral-pharyngeal dysphagia, Ear pain, Jaw claudication, Weight loss, Chiari type I ... ORPHA:221098
Gaucher Disease, Type Iii
Hepatomegaly, Ataxia, Splenomegaly, Depression, Myoclonus, Spastic paraparesis, Generalized myocl... OMIM:231000
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Involuntary movements, Babinski sign, Flexion contracture, Cerebral atrophy, ... OMIM:618397
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine... ORPHA:329478
Eosinophilic Fasciitis
Fatigue, Myositis, Fasciitis, Weight loss, Arthralgia, Myalgia, Cellulitis, Muscular edema, Acroc... ORPHA:3165
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Primary adrenal insufficiency, L... OMIM:300100
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Inguinal hernia, Hypoglycemia, Elbow contracture, Rigidity, Focal-onset seizure, Clonic seizure, ... OMIM:620275
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Cystinosis
Fatigue, Portal hypertension, Myopathy, Gait disturbance, Type I diabetes mellitus, Polydipsia, F... ORPHA:213
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Generalized-onset seizure, Ataxia, Abnormal central motor func... ORPHA:228360
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Dysphagia, Cardiomyopathy, Facial dip... ORPHA:171433
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Zebra Body Myopathy
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... ORPHA:97240
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Fatigue, Exercise intoleran... ORPHA:79240
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated hepatic transaminase, Ataxia, Microvesicular hepatic steatosis, M... ORPHA:66634
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Weight loss, Cardiomyopathy, Hyperten... ORPHA:767
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Cerebr... ORPHA:79264
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... OMIM:616829
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Splenomegaly, Status epilepticus, Agitation, Generalized hypotonia, Failure to thrive, Ne... OMIM:619046
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Fatigue, Ataxia, Ragged-red muscle fibers, Dysphagia, Loss of ambulation, Hyp... OMIM:607426
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Lower limb spasticity, Hyperactivity, Parkinsonism, Anorexia, Aggressive behavior... ORPHA:3077
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Ataxia, Abnormal brainstem morphology ORPHA:1532
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal t... OMIM:607483
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Flexion contracture, Gliosis, Hepatomegaly, Ataxia, Micronodular cirrhosis, Seizure, Myoclonus, T... OMIM:301072
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1... ORPHA:424107
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Generalized ... ORPHA:307
Riboflavin Deficiency
Hypoglycemia, Hypotonia OMIM:615026
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Ataxia, Epistaxis, Cardiac arrest, Abdominal ... ORPHA:99745
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function, Small for gestational age OMIM:615160
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Malabsorption OMIM:209920
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Anemia, Weight loss, Hematuria, Thrombocytopenia ORPHA:69077
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Diabetes... OMIM:598500
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Abnormal... ORPHA:90308
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Fatigue, Mitral valve prolapse, Arthralgia,... ORPHA:230839
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Ulnar deviation of the hand, Elbow ... OMIM:620310
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia ORPHA:306511
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Prolonged neonatal j... ORPHA:95716
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Recurrent respiratory infections,... ORPHA:980
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal testis morpho... ORPHA:791
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Dystonia, Ataxia, Hypotonia, Dysmetria, Clumsiness, Gait ataxia, Limb ataxia,... OMIM:616127
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Hypotonia, Seizure, Status epilepticus, Neurodegeneration, Generalized hypoto... OMIM:616239
Primary Dystonia, Dyt21 Type
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... ORPHA:306734
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Fatigue, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy,... ORPHA:209335
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Axial hypotonia, Ataxia, Spastic tetraparesis, Impulsivity, Ce... ORPHA:35069
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Corpus callosum atrophy, Babinski sign, Depression, Pseudobulbar paralysis, Gliosis, Spas... OMIM:169500
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevat... OMIM:619644
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Isobutyryl-Coa Dehydrogenase Deficiency
Hypotonia, Ketotic hypoglycemia ORPHA:79159
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:229050
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Flexion contracture, Leukopenia, Nephr... OMIM:617303
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Fatigue, Glucose intolerance ORPHA:75563
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hypotonia, Seizure, Myoclonus, Spasticity OMIM:246450
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abno... ORPHA:646
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Macrovesicular hepatic st... OMIM:608836
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Cachexia ORPHA:93941
Mucolipidosis Type Iii
Abnormal heart valve morphology, Inguinal hernia, Abnormal aortic valve morphology, Fatigue ORPHA:577
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Cerebral atrophy, Seizure, Dystonia... ORPHA:542310
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Hypotonia, Opistho... OMIM:252160
Pyruvate Carboxylase Deficiency
Hepatomegaly, Failure to thrive, Ataxia, Hypoglycemia, Infantile spasms, Generalized clonic seizu... ORPHA:3008
Posttransplant Acute Limbic Encephalitis
Ataxia, Depression, Seizure, Myoclonus, Dystonia ORPHA:163921
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetrapl... ORPHA:3240
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Seizure, Generalized hypoto... OMIM:201450
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... OMIM:614300
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Hypotonia, Myoclonus, Type I diabetes mellitus, Failure to thrive OMIM:560000
Hypotonia-Cystinuria Syndrome
Axial hypotonia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation... OMIM:606407
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign... OMIM:607694
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Dysphagia, Weakness of facia... OMIM:617069
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:252650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased vari... OMIM:613157
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo... ORPHA:73272
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Lymphoma, Inflammation of the ... OMIM:614700
Leukodystrophy, Hypomyelinating, 2
Axial hypotonia, Ataxia, Dystonia, Rigidity, Head titubation, Babinski sign, Cerebral atrophy, Ch... OMIM:608804
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Caudate atrophy, Parkinsonism, A... OMIM:200150
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Diffuse cerebral atrophy, Ataxia, Bil... OMIM:617193
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Bruxism, Seizure, Self-injurious behavior, Brain atrophy, Infantile muscul... OMIM:618718
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Axial hypotonia, Dorsocervical fat pad, Hypoglycemia, Diabetes mellitus, Small for gestational ag... ORPHA:391408
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Skin rash ORPHA:290
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... OMIM:203700
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypotonia, Generalized hypotonia, Dystonia OMIM:618244
Myopathy, Distal, 3
Split hand, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, J... OMIM:610099
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic valv... ORPHA:1194
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Small for gestational age, Gait ataxia, Seizure, Recurrent hypoglycemia, Truncal ... OMIM:616817
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Generalized-onset seizure, Hypotonia, Cerebral atrophy, Seizure, Self-injurious behavior, General... OMIM:617268
Bachmann-Bupp Syndrome
Lower limb spasticity, Hypoglycemia, Aggressive behavior, Large for gestational age, Generalized ... OMIM:619075
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Maple Syrup Urine Disease
Ataxia, Hypoglycemia, Hypotonia, Seizure, Hypertonia, Generalized hypotonia, Pancreatitis OMIM:248600
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Short metacarpal, Ataxia, Centrally nucleated skelet... OMIM:248800
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure, Ankle flexion contracture, Hypoglycemia OMIM:618120
Angelman Syndrome
Tremor, Hyperactivity, Ataxia, Tongue thrusting, Obesity, Seizure, Myoclonus, Atypical absence se... ORPHA:72
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased muscle mass, Cachexia, Abdominal pain, Ragged-red muscle... ORPHA:298
Friedreich Ataxia
Diabetes mellitus, Chorea, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Poor fine motor co... ORPHA:95
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertensio... OMIM:619487
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia OMIM:619724
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... ORPHA:897
Leukodystrophy, Hypomyelinating, 16
Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Hypertonia,... OMIM:617964
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Fatigue, Abnormal cardiac ventricle morp... ORPHA:85443
Hypoadrenocorticism, Familial
Cyanosis, Hypoglycemia, Adrenal hypoplasia, Seizure, Adrenal insufficiency OMIM:240200
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Weight loss ORPHA:100024
Machado-Joseph Disease Type 3
Cerebellar atrophy, Abnormal lower motor neuron morphology, Substantia nigra gliosis, Facial-ling... ORPHA:276244
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Failure to thrive ORPHA:500533
Nephronophthisis 14
Retinal degeneration OMIM:614844
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Abnormality of the kidney, Impaired ADP-induced platelet aggregation,... OMIM:155100
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatic steatosis, Hepatomegaly, Short fe... ORPHA:17
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Mitochondrial Complex I Deficiency, Nuclear Type 17
Generalized dystonia, Ataxia, Rigidity, Focal motor seizure, Hypotonia, Seizure, Dystonia OMIM:618239
Malonyl-Coa Decarboxylase Deficiency
Seizure, Hypoglycemia, Hypotonia, Generalized hypotonia OMIM:248360
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephr... OMIM:232220
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Clonus, Small for gestational age, Spastic tetraplegia, Seizure, Status epilepticus... OMIM:619055
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Axial hypotonia, Clonus, Tonic seizure, Chorea, Babinski sign, Hypotonia, Cer... OMIM:612389
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Epileptic spasm, Cerebral atrophy, Myoclonus, Generalized hypotonia, Decrease... OMIM:619060
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Methylmalonic aciduri... OMIM:614857
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Seizur... OMIM:612438
Congenital Myopathy 24
Waddling gait, Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopath... OMIM:617336
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega... ORPHA:309155
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Joubert Syndrome 20
Molar tooth sign on MRI, Inability to walk, Oculomotor apraxia OMIM:614970
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Babinski sign, Slurred speech, Dysmetria, Clumsiness, Gait ataxia, Nonprogressive cereb... ORPHA:453521
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Cachexia ORPHA:2930
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Monoclonal elevation of circulating IgA, Myocardial in... ORPHA:91139
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Fatigue, Hepatomegaly, Ataxia, Cerebral ischemia, Agitation, Emotional lability, Failure to thriv... ORPHA:927
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dysd... OMIM:618049
Patent Ductus Venosus
Hepatic steatosis, Persistent patent ductus venosus, Decreased liver function, Congenital portosy... OMIM:601466
Legionnaires Disease
Fatigue, Pericarditis, Ataxia, Anorexia, Abdominal pain, Myocarditis, Splenomegaly, Jaundice, Hep... ORPHA:549
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Den Hoed-De Boer-Voisin Syndrome
Tremor, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Ataxia, Overweight, Obesity, Ste... OMIM:619229
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus... OMIM:609560
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Ble... ORPHA:306674
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Aggressive Systemic Mastocytosis
Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, ... ORPHA:98850
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Multifocal seizures, Ataxia, Neonatal hypoglycemia, Aggressive behavior, Trem... ORPHA:572798
Sulfite Oxidase Deficiency, Isolated
Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Generalized dystonia, Cerebral atrophy, ... OMIM:272300
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysm... OMIM:617145
Houge-Janssens Syndrome 1
Multifocal seizures, Facial hypotonia, Hypoglycemia, Hypotonia, Gait ataxia, Seizure, Generalized... OMIM:616355
Primary Myelofibrosis
Hepatomegaly, Cachexia, Portal hypertension, Splenomegaly, Hepatosplenomegaly ORPHA:824
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Exercise intolerance, Facial palsy, Dilated cardiomyopathy, Ragged-red muscle... OMIM:615084
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ly... OMIM:618048
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... OMIM:254130
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Myocarditis, Congestive ... ORPHA:206569
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Cerebral cortical atrophy, Retinal degeneration, Degeneration of the latera... OMIM:604360
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Abnormal cerebellum morphology, Ragged-red muscle fibers, Myopathy, Difficulty walking OMIM:618242
Cap Myopathy
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... ORPHA:171881
H Syndrome
Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Abnormality of the kidney, Microcytic ane... ORPHA:168569
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy OMIM:616722
Necrotizing Enterocolitis
Shock, Small for gestational age, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotensio... ORPHA:391673
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Flexion contracture, Lower limb muscle weakness, Fatigue, Hepatomegaly, Glycogen ac... ORPHA:365
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Primary Non-Essential Cutis Verticis Gyrata
Keloids, Seizure, Gliosis ORPHA:357225
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Emphysema, Bronchiectasis, Weight loss ORPHA:1164
Alveolar Echinococcosis
Liver abscess, Cholangitis, Fatigue, Ataxia, Abnormal pericardium morphology, Portal hypertension... ORPHA:284
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... ORPHA:90793
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Dysphagia, Seizure, Atheto... OMIM:617951
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Failure to thrive, Abnormal brainstem morphology, Agenesis of cor... ORPHA:255182
Isolated Thyroid-Stimulating Hormone Deficiency
Fatigue, Delayed proximal femoral epiphyseal ossification, Depression, Macroglossia, Bradycardia,... ORPHA:90674
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dys... ORPHA:53583
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia ORPHA:85446
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Weight loss, Pleural emp... ORPHA:67
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Exercise intolerance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia ORPHA:2123
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Obesity, Seizure, Generalized hypotonia, Dys... ORPHA:480907
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor OMIM:203450
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys... OMIM:610127
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... OMIM:201400
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Abnor... ORPHA:209905
Spinocerebellar Ataxia 28
Cerebellar atrophy, Parkinsonism, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia,... OMIM:610246
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hypotonia, Tetraplegia, Cerebral atrophy, Cho... OMIM:616034
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Mac... OMIM:619260
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy ORPHA:370968
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia, Adrenal insufficiency, Dysphagia OMIM:619025
Intermediate Osteopetrosis
Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Hypocalcemia, Abnorma... ORPHA:210110
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Elevated hepatic transaminase, Exercise intolerance, Impaired glucose toleran... OMIM:610131
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Infantile axial hypotonia, Tonic seizure, Focal hemiclonic seiz... OMIM:616973
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... ORPHA:2959
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Splenomegaly, Cerebral atrophy, ... OMIM:610333
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Long toe, Long fingers, Failu... OMIM:615438
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Multifocal seizures, Ataxia, Involuntary movements, Axial hypotonia, Choreoathetosis, Amelogenesi... OMIM:615905
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, ... ORPHA:52368
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Eosinophilic Granulomatosis With Polyangiitis
Fatigue, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal peric... ORPHA:183
Primary Dystonia, Dyt6 Type
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... ORPHA:98806
Aredyld Syndrome
Splenomegaly, Hepatomegaly, Cachexia ORPHA:1133
Combined Oxidative Phosphorylation Deficiency 35
Spasticity, Cerebral atrophy, Generalized hypotonia, Dystonia, Generalized myoclonic seizure, Feb... OMIM:617873
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... OMIM:608594
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Hypotonia, Dysmetria, Gait ataxia, Dystonia OMIM:203740
D-Glyceric Aciduria
Increased circulating free fatty acid level, Chorea, Seizure, Myoclonus, Brain atrophy, Infantile... ORPHA:941
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Waddling gait, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb... OMIM:616924
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:602771
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Dystonia, Decreased serum testoster... ORPHA:101006
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Fatigue, Hepatic cys... ORPHA:400
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Fatigue, Tachycardia, Rigors, Urinary incontinence, Pulmonary embo... ORPHA:94093
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Cerebellar atrophy, Axial hypotonia, Hypoglycemia, Hypotonia, Myoc... OMIM:618329
Rhabdomyolysis, Susceptibility To, 1
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle f... OMIM:620235
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Axial hypotonia, Dysphagia, Seizure, Myoclonus, Dystoni... OMIM:617669
Poliomyelitis
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypoplasia of the musculature, Anorexia, ... ORPHA:2912
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hypotonia, Hyperinsu... ORPHA:2849
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat... ORPHA:71212
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Axonal degeneration, Limb ataxia, Gait atax... OMIM:208920
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Renpenning Syndrome
Cachexia ORPHA:3242
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Skeletal muscle atrophy, Exercise intolerance, Increased circulati... OMIM:620138
Spinocerebellar Ataxia Type 11
Progressive cerebellar ataxia, Abnormal pyramidal sign, Dysphagia, Dystonia ORPHA:98767
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia, Hypotonia, Seizure, Irritability OMIM:229700
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Hypothyroidism, Ataxia, Parkinsonism, Depr... ORPHA:909
Huntington Disease-Like 3
Caudate atrophy, Ataxia, Chorea, Flexion contracture, Abnormal pyramidal sign, Seizure, Abnormali... OMIM:604802
Nipah Virus Disease
Tremor, Seizure, Myoclonus, Anorexia ORPHA:99825
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... OMIM:618060
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Exercise intolerance, Cardiac arrest, Cardi... OMIM:617713
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Hypergonadotropic hypogonadism, Head tremor, Dystonia, Intention tremor OMIM:613724
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Exercise intolerance, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopa... ORPHA:352447
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Dysphagia, Tetraparesis, Generalized hypotonia, Dystonia, Pancreatitis OMIM:618230
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... ORPHA:300573
Baralle-Macken Syndrome
Focal-onset seizure, Obesity, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy OMIM:619255
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Optic atrophy, Retinal degeneration OMIM:616211
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Dysphagia OMIM:617070
Machado-Joseph Disease Type 1
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276241
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Failure to thrive, Hepatic steatosis ORPHA:300536
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Cryptorchidism, Abnormality of retinal pigmentation, Decreased testicular size ORPHA:3085
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Reni Syndrome
Hypertriglyceridemia, Ataxia, Hypoglycemia, Seizure, Adrenal insufficiency, Hypogonadism, General... OMIM:617575
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Ch... ORPHA:48818
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hepatospleno... ORPHA:367
Joubert Syndrome 15
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:614464
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obesity, Dysphagia, Se... ORPHA:98794
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Hypotonia, Weight loss, Seizure, Agitation, Extrapy... ORPHA:134
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Transaldolase Deficiency
Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine c... ORPHA:101028
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Focal-onset seizure, Babinski sign, Delay... ORPHA:447896
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Exercise-induced... OMIM:160565
Majeed Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Weight loss, Failure to thrive ORPHA:77297
Early Infantile Epileptic Encephalopathy
Diffuse cerebral atrophy, Tremor, Choreoathetosis, Hyperactivity, Precocious puberty, Seizure, My... ORPHA:1934
Leukoencephalopathy, Cystic, Without Megalencephaly
Ataxia, Seizure, Athetosis, Dystonia, Spasticity OMIM:612951
Mitochondrial Myopathy With Lactic Acidosis
Hypotonia, Dysmetria, Seizure, Focal impaired awareness seizure, Dystonia, Spasticity OMIM:251950
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Micronodular cirrhosis, Obesity, Cardiomyopa... ORPHA:98907
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... ORPHA:2088
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibrosis, Hepatomegaly, Osteopor... ORPHA:79259
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t... ORPHA:171
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hypotonia, Seizure, Self-injurious behavior, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva... OMIM:617253
Hemochromatosis, Type 3
Elevated hepatic transaminase, Cardiomyopathy, Fatigue, Cirrhosis OMIM:604250
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Seizure, Irritability, Fast... ORPHA:348
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Fatigue, Hypoglycemia, Overweight, Abnormal cerebellum morphology, Delayed proximal femoral epiph... ORPHA:226307
Ataxia-Telangiectasia
Diabetes mellitus, Ataxia, Female hypogonadism, Tremor, Slurred speech, Choreoathetosis, Seizure,... OMIM:208900
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Spasticity ORPHA:2828
Coach Syndrome 3
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:619113
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... OMIM:269700
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hepatomegaly, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with ... ORPHA:163681
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Seizure OMIM:616483
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thromboc... OMIM:617475
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, N... ORPHA:289916
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia,... OMIM:618598
Myasthenic Syndrome, Congenital, 12
Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia ORPHA:664
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Hepatome... ORPHA:14
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia ORPHA:3386
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Decreased circulating cortisol level, Hyperactivity, Ataxia, Spastic tetra... ORPHA:139396
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Gliosis, ... OMIM:607485
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... OMIM:618484
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly,... OMIM:615673
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... OMIM:251000
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Epistaxis, Portal hypertension, Nodular reg... OMIM:619463
Lissencephaly, X-Linked, 2
Hypotonia, Seizure, Gliosis, Generalized hypotonia, Spasticity OMIM:300215
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Abnormal pyramidal sign, Cerebral atrophy,... ORPHA:527497
Slc35A1-Cdg
Giant platelets, Hypoxemia, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertonia, Gait distur... ORPHA:309854
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Decre... OMIM:231530
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbumine... OMIM:608104
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Cerebral atrophy ORPHA:166024
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension ORPHA:70587
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Small for gestational age, Infantile spasms, Hypotonia, Cerebral atrop... OMIM:612073
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Spastic tetraplegia, Dystonia OMIM:618646
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... ORPHA:95619
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb dystonia, Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Hypoton... OMIM:617560
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Pseud... OMIM:616140
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Abnormal... ORPHA:79324
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... OMIM:246200
Spontaneous Periodic Hypothermia
Fatigue, Arrhythmia, Ataxia, Gait disturbance ORPHA:29822
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Nephrop... OMIM:208085
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Axial hypotonia, Bilateral tonic-clonic seizure, Facial-lingual fas... OMIM:617281
Giant Cell Arteritis
Fatigue, Pericarditis, Gangrene, Ataxia, Epistaxis, Sudden cardiac death, Abdominal pain, Anorexi... ORPHA:397
Neurodevelopmental Disorder With Spasticity And Poor Growth
Axial hypotonia, Ataxia, Clonus, Infantile spasms, Generalized dystonia, Achilles tendon contract... OMIM:618076
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Spastic paraplegia, Poor gross motor coordination, Spastic tetraplegia, Poor fine motor c... OMIM:245349
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Chronic fatigue, Anorexia, Weight loss ORPHA:100083
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemi... OMIM:259700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Adducted thumb, Finger clinodactyly, Camptodactyly, Brachydactyly ORPHA:444051
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas... ORPHA:90791
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612926
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Ad... OMIM:617053
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Arthralgia, Cholecystitis, Chi... ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomeg... OMIM:617591
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Axial hypotonia, Vocal cord paralysis, Dysphagia, Seizure, Myoclonus, Dystonia, ... ORPHA:500144
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Lynch Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Fatigue, Hepato... ORPHA:144
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis ORPHA:436182
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Skeletal muscle steatosis, Gait disturbance, Decreased liver function, Glyc... ORPHA:436271
Hyperekplexia 1
Exaggerated startle response, Inguinal hernia, Seizure, Hypertonia, Myoclonus, Umbilical hernia, ... OMIM:149400
Classic Hodgkin Lymphoma
Fatigue, Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Bone pain, Weight loss, Chest pain ORPHA:391
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle ... ORPHA:353327
Central Core Disease
Multiple joint contractures, Mitral valve prolapse, Myopathy, Talipes equinovarus, Type 1 muscle ... ORPHA:597
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Inability to walk, Bilateral wrist flexion contracture, Congenita... ORPHA:97297
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Muscular ... OMIM:617066
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Hepatomegaly, Ulnar deviation of the 3rd finger, Ataxia, Pancreatic fibrosis,... OMIM:616263
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia ORPHA:702
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Craniosynostosis, Puberty and gonadal disorders, Splenomegaly, Thyro... ORPHA:525731
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus ORPHA:1573
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612924
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Left ventricular outflow tract obstructi... ORPHA:308552
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Exercise intolerance, Decreased muscle mass, Arachnodactyly, Hepat... OMIM:619013
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue, Diabetes mellitus, Small for gestational age, Increased body weight, Type II diabetes me... OMIM:274300
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, A... ORPHA:95496
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Aggressive behavior, Impulsivity, Limb... OMIM:607454
Alg3-Cdg
Lipodystrophy, Spastic tetraparesis, Abnormality of the endocrine system, Hypotonia, Seizure, Sub... ORPHA:79321
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Holocarboxylase Synthetase Deficiency
Anorexia, Hyperammonemia, Weight loss, Organic aciduria, Thrombocytopenia ORPHA:79242
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Chorea, Spastic tetraplegia, Seizure, Irritability, Hypertonia, Sta... OMIM:617864
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia, Cerebral cortical atrophy ORPHA:2158
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... OMIM:620285
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Splenomegaly, Thrombocytopenia, Os... OMIM:611490
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Pain, Diffuse cerebellar atrophy, Dysphagia ORPHA:477774
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue, Lower limb muscle weakness, Spastic gait, Difficulty walking ORPHA:171612
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Chorea, Hypotonia, Bruxism, Hemiparesis, Seizure, Self-injurious behavior, S... OMIM:618004
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Monosomy 13Q34
Epistaxis, Postaxial hand polydactyly, Insulin resistance, Obesity, Hematochezia, Postaxial foot ... ORPHA:96168
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Cachexia ORPHA:1876
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Multiple lipomas, Foot polydactyly, Attention deficit hyperactivity di... ORPHA:210548
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... OMIM:255320
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Slc35A2-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Limb joint contracture, Camptodactyly of finge... ORPHA:356961
Infantile Krabbe Disease
Lower limb spasticity, Diffuse cerebral atrophy, Infantile axial hypotonia, Cachexia, Spastic dip... ORPHA:206436
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ataxia,... ORPHA:20
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Hereditary Continuous Muscle Fiber Activity
Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Clonus, Irritabilit... OMIM:616881
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Hepatomegaly, Inguinal hernia, Corpus callosum atrophy, Splenomegaly, Babinsk... OMIM:248500
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Joubert Syndrome 32
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:617757
Acquired Methemoglobinemia
Fatigue, Tachycardia, Cyanosis, Abdominal pain, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Tetanus
Rigors, Tachycardia, Bowel incontinence, Abdominal pain, Hypertension, Bradycardia, Dysphagia ORPHA:3299
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Failure to thrive, Ventricular septal defect, Cachexia ORPHA:217346
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration OMIM:249270
Diaphanospondylodysostosis
Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies... OMIM:608022
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Schnitzler Syndrome
Fatigue, Hepatomegaly, Splenomegaly, Vasculitis, Bone pain, Arthralgia, Myalgia ORPHA:37748
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval, Cachexia OMIM:312750
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Xanthelasma, Focal segm... OMIM:232200
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim... ORPHA:101
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Cerebral palsy, Hypoglycemia, Hypotonia, Opisthotonus, Seizure, Generalized hypotonia, Failure to... OMIM:210210
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Diabetic ketoacidosis, Hypertension, Hepatic steatosis OMIM:615238
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Achilles tendon contracture, Fatigue OMIM:619719
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, ... OMIM:194350
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cerebellar vermis hypoplasia, Cardiomegaly, Heart block, Hepatic calcification, Car... ORPHA:228308
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hy... OMIM:613153
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... OMIM:603553
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Smith-Kingsmore Syndrome
Hypoglycemia, Large for gestational age, Seizure, Generalized hypotonia, Umbilical hernia OMIM:616638
Muscular Dystrophy, Limb-Girdle, Type 1H
Increased connective tissue, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... OMIM:613530
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Arachnodactyly, Myocardial infarction, Mitral valve prolapse, Depression, Failur... OMIM:236200
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Jaundice, Hypotonia, Cerebral atrophy, Dysphagia, Seizure, Hypertonia, Generalize... OMIM:617248
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Fatigue, Hepato... ORPHA:440437
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Bilateral tonic-clonic seizure with generalized onset, Infantile axial hypot... ORPHA:2524
Juvenile Sialidosis Type 2
Lower limb spasticity, Hepatomegaly, Inguinal hernia, Ataxia, Dysmetria, Hepatosplenomegaly, Dysp... ORPHA:93399
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Hiatus hernia, Hypertonia, Myoclonus OMIM:614618
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Epileptic spasm, Corpus callosum atrophy, Focal-onset seizure, Babinski sign,... OMIM:617339
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Axial hypotonia, Spastic tetraparesis, Hypotonia, Seizure, Dystonia, Cerebral cortical atrophy OMIM:617668
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Urinary incontinence, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakne... ORPHA:466768
Relapsing Fever
Elevated hepatic transaminase, Fatigue, Tachycardia, Increased circulating lactate dehydrogenase ... ORPHA:91547
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Angina pe... ORPHA:565612
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Stt3B-Cdg
Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia ORPHA:370924
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Hypoxemia,... ORPHA:90060
Isolated Agammaglobulinemia
Failure to thrive, Abnormality of neutrophils, Thrombocytopenia, Cellulitis, Abnormal lymphocyte ... ORPHA:229717
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Exercise intolerance, Hypoglycemia, Congestive heart failure, Micr... OMIM:611126
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... ORPHA:2298
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Splenomegaly, Jaundice, Bradycard... ORPHA:90051
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Failure to thrive, Clonus, Limb dystonia ORPHA:319199
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Restlessness, Facial hypotonia, Involuntary movement... OMIM:615273
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Axial hypotonia, Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abno... OMIM:605711
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni... ORPHA:352582
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci... ORPHA:79303
Joubert Syndrome 17
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:614615
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Pontocerebellar Hypoplasia Type 10
Irritability, Abnormal brainstem morphology ORPHA:411493
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Sialidosis Type 1
Ataxia, Tremor, Splenomegaly, Slurred speech, Hypotonia, Seizure, Myoclonus, Hernia ORPHA:812
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Focal-onset seizure, Dysmetria, Pseudobu... ORPHA:438114
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Cerebral atrophy, Seizure, Myoclonus, Dysphagia, Oroman... ORPHA:412217
Hereditary Hyperekplexia
Ataxia, Hiatus hernia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Hernia, Umbilica... ORPHA:3197
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... ORPHA:254864
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Joubert Syndrome 7
Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the brainstem, Molar tooth sign on... OMIM:611560
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Severe muscular hypotonia, Seizure, Stillbirth, Tongue fasciculations, Generalized ... OMIM:614922
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hypokalemia, Hyperaldosteronism... ORPHA:369929
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Joint contracture, Dy... OMIM:617664
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Tetraplegia, Seizure, Hypertonia, Gliosis OMIM:608033
Tetrasomy 12P
Cachexia ORPHA:884
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dysplastic corpus ca... OMIM:614924
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Seizure, Irritability, Hypertonia, Agitation, Myoclonus, ... ORPHA:43116
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Large for gestational age, Precocious puberty, Hypotonia, Seizure, Self-injuriou... ORPHA:261652
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia OMIM:615597
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Neonatal hypotonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis... OMIM:245348
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Felty Syndrome
Hepatomegaly, Recurrent urinary tract infections, Cellulitis, Splenomegaly, Osteolysis, Weight lo... ORPHA:47612
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Axial hypotonia, Chorea, B... OMIM:618451
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Failure ... OMIM:609015
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Cerebral Visual Impairment
Cerebral palsy, Clumsiness, Central nervous system degeneration, Seizure, Neurodegeneration, Atte... ORPHA:447788
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Congestive heart failure, Cardiomyopathy, Pulmonary hypoplasia, Pa... OMIM:616866
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Hypoglycemia, Aggressive behavior, Seizure, Low frustration tolerance, Generalized hypoto... ORPHA:457279
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Myopathy, Centronuclear, 4
Exercise intolerance, Myalgia, Type 1 muscle fiber predominance, Centrally nucleated skeletal mus... OMIM:614807
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Hypotonia... ORPHA:449291
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Severe muscular hypotonia, Febrile status epilepticus, Axial hypotonia... OMIM:612949
Schindler Disease, Type I
Hypotonia, Seizure, Myoclonus, Generalized hypotonia, Spasticity OMIM:609241
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Spastic Paraplegia 53, Autosomal Recessive
Clonus, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, Dystonia OMIM:614898
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Hypotonia, Seizure, Dystonia, Umbilical ... OMIM:616977
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss, Recurrent pharyngitis ORPHA:42642
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Hypotonia, Titubation, Gliosis, Failure to thrive ORPHA:280210
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber... OMIM:617915
Inflammatory Bowel Disease 11
Hematochezia, Weight loss OMIM:191390
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Generalized dystonia, Opisthotonus... OMIM:619653
Gitelman Syndrome
Prolonged QT interval, Fatigue, Salt craving, Ataxia, Abdominal pain, Rhabdomyolysis, Ventricular... OMIM:263800
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Pulmonary Hypertension, Primary, 5
Fatigue, Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Ri... OMIM:265400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Inability... OMIM:615356
Castleman Disease
Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive ... ORPHA:160
Pontocerebellar Hypoplasia, Type 7
Ataxia, Spastic paraplegia, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, Seizure, ... OMIM:614969
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Leukopeni... ORPHA:27
Mitochondrial Trifunctional Protein Deficiency 2
Bilateral tonic-clonic seizure, Elevated circulating aspartate aminotransferase concentration, Hy... OMIM:620300
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Fatigue, Tachycardia, Heart block, Capillary leak, Hypoxemia, Redu... ORPHA:542323
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure ORPHA:261519
Follicular Lymphoma
Splenomegaly, Pleural effusion, Weight loss ORPHA:545
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Hypoxemia, Abnormality of connective tiss... ORPHA:79128
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Leukodystrophy, Hypomyelinating, 25
Seizure, Dystonia, Hypotonia, Gait ataxia OMIM:620243
Peho Syndrome
Cerebellar atrophy, Severe muscular hypotonia, Seizure, Myoclonus, Generalized hypotonia, Neurona... OMIM:260565
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Decreased circulating cortisol level, Hypoglycemia, Decreased liver function OMIM:618835
Krabbe Disease
Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti... OMIM:245200
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop... OMIM:614520
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... ORPHA:40366
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Dysphagia, Choreoathetosis, Dystonia, Limb hypertonia OMIM:618247
Severe X-Linked Intellectual Disability, Gustavson Type
Severe muscular hypotonia, Small for gestational age, Seizure, Contractures of the large joints, ... ORPHA:3078
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... OMIM:615745
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Decreased circulating cortisol level, Hypoglycemia, Decreased liver function OMIM:618839
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Aapoaiv Amyloidosis
Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes m... ORPHA:439232
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Rigors, Myocarditis, Fulminant hepatitis, Dysphagia, Subcon... ORPHA:319213
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Generalized-onset seizure, Large for gestational age, Focal-onset seizure, Hypoton... ORPHA:457485
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal ... OMIM:614576
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... OMIM:605676
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi... OMIM:607459
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dystonia, Episodic ataxia OMIM:601042
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time OMIM:619377
Analbuminemia
Fatigue, Lipodystrophy, Hypotension OMIM:616000
Brain Dopamine-Serotonin Vesicular Transport Disease
Axial hypotonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor,... ORPHA:352649
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Joubert Syndrome 40
Molar tooth sign on MRI, Oculomotor apraxia OMIM:619582
Basilicata-Akhtar Syndrome
Precocious puberty, Seizure, Camptodactyly, Generalized hypotonia, Progressive spasticity, Neonat... OMIM:301032
Cimdag Syndrome
Hepatomegaly, Ataxia, Lipodystrophy, Microvesicular hepatic steatosis, Chorea, Hypotonia, Cerebra... OMIM:619273
Avian Influenza
Elevated hepatic transaminase, Fatigue, Abdominal pain, Congestive heart failure, Rhabdomyolysis,... ORPHA:454836
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ... OMIM:251110
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Splenomegaly, Slurred speech, Hypotonia, Dysmetria, Seizure, Myocl... OMIM:256550
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Angina pectoris, Myocardial infarction OMIM:176670
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... OMIM:618775
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Neurodegeneration,... ORPHA:79244
X-Linked Intellectual Disability Due To Gria3 Mutations
Axial hypotonia, Bilateral tonic-clonic seizure, Facial hypotonia, Aggressive behavior, Babinski ... ORPHA:364028
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exercise intolerance, Hepatomegaly, Ataxia, Increased hepatocellular lipid droplets, Glycosuria, ... OMIM:220110
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Scheie Syndrome
Retinal degeneration OMIM:607016
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Fatigue, Left-to-right shunt, Abnormally loud pulmo... ORPHA:99104
Developmental And Epileptic Encephalopathy 100
Chorea, Myoclonic seizure, Choreoathetosis, Gait ataxia, Abnormal repetitive mannerisms, Tonic se... OMIM:619777
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Pituitary adeno... ORPHA:199299
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Infantile spasms, Spastic tetraparesis, Hypotonia, Cerebral atrophy, S... OMIM:614261
Snakebite Envenomation
Pain, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Neuromuscular dysphagia, Int... ORPHA:449285
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Congestive heart failure, Tachycardia ORPHA:90033
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Coach Syndrome 2
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hyperte... OMIM:619111
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Agitation, Myoclonus, Disinhibition, Apraxia, Oculomot... ORPHA:1020
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Reticular Dysgenesis
Recurrent respiratory infections, Failure to thrive, Weight loss, Decreased circulating antibody ... ORPHA:33355
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Reduced circulating aldolase concentratio... ORPHA:57
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Silver-Russell Syndrome Due To A Point Mutation
Inguinal hernia, Small for gestational age, Hypoglycemia, Attention deficit hyperactivity disorde... ORPHA:397590
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100080
Melas
Hypoparathyroidism, Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Diab... ORPHA:550
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Inguinal hernia, Tricuspid regurgitation, Abnormal... ORPHA:230851
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Dysphagia, Depression, Proximal... OMIM:613954
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal spleen morpholog... ORPHA:464329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy OMIM:613156
Siddiqi Syndrome
Seizure, Flexion contracture, Limb dystonia OMIM:618635
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign... OMIM:616267
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Anorexia, Hy... ORPHA:77259
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Fatigue, Scapular winging, Ventricular septal defect, Sandal gap, Tapered finger, Aggressive beha... OMIM:617061
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Foot joint contracture, Hypotonia, Tetraplegia, Cerebral atrophy, Seizure, Dy... OMIM:619641
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Infantile spasms, Head titubation, Hypotonia, Seizure, Irritability, Truncal ataxia, Fa... ORPHA:88639
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Depression, Intracranial hemorrhage, Emotional l... ORPHA:324636
Liang-Wang Syndrome
Cerebellar atrophy, Axial hypotonia, Ataxia, Generalized non-motor (absence) seizure, Cerebral at... OMIM:618729
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, J... OMIM:617049
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Failure to thrive in infancy, Hypoglyc... OMIM:619418
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Angina pectoris, Epistaxis, Portal hypertensi... ORPHA:729
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hyperactivity, Restlessne... ORPHA:247585
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Hypotonia, Dysmetria, Gait ataxia, Cho... OMIM:604391
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Dystonia, Parkinsonism, Impulsivity, Rigidity, Slurred speech, Leg dystoni... ORPHA:157850
Idiopathic Pulmonary Hemosiderosis
Fatigue, Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegal... ORPHA:99931
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Spastic paraparesis, Palatal tremor, Cerv... ORPHA:363722
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Chronic Hiccup
Weight loss ORPHA:396
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Hypoglycemia, Infantile spasms, Generalized non-moto... OMIM:620224
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hepatomegaly, Micropenis, Hypocholesterolemia OMIM:618810
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ... OMIM:203800
Hypotonia-Cystinuria Syndrome
Fatigue, Failure to thrive, Polyphagia ORPHA:163690
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Mitral... OMIM:617258
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Myoclonic-Astatic Epilepsy
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... ORPHA:1942
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Increased connective tissue, Abnormal brains... ORPHA:258
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase c... OMIM:608779
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysme... OMIM:614381
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... ORPHA:2326
Japanese Encephalitis
Dystonia, Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Anorexi... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia OMIM:614932
Immunodeficiency, Common Variable, 11
Fatigue, Clubbing of fingers, Failure to thrive OMIM:615767
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Seizure, Irritability, Fasting hypoglycemi... ORPHA:159
Developmental And Epileptic Encephalopathy 86
Dystonia, Small for gestational age, Generalized hypotonia, Myoclonic seizure OMIM:618910
Athyreosis
Fatigue, Macroglossia ORPHA:95713
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Absence seizure with eyelid myoclonia, Ataxia, Jaundice, Generalized non-motor (abs... OMIM:613839
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Seizure, Mul... ORPHA:765
Harel-Yoon Syndrome
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Generalized non-motor (absence) seizure, ... OMIM:617183
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Clonus, Babinski sign, Dysphagia, Progressive cerebellar ataxia, Prolonged ne... OMIM:618868
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Choreoathetosis, Head... ORPHA:64753
Postpoliomyelitis Syndrome
Fatigue, Skeletal muscle atrophy, Arthralgia, Myalgia, Dysphagia, Pain ORPHA:2942
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Pancreatic fibr... OMIM:557000
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-on... ORPHA:501
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anem... OMIM:277380
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, A... ORPHA:370022
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... ORPHA:276621
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, Bacterial endocarditis,... ORPHA:97214
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Leukopenia,... ORPHA:520
Liddle Syndrome
Fatigue, Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Microscopic hema... ORPHA:1830
Nephroblastoma
Neoplasm of the lung, Hypertension, Weight loss ORPHA:654
Aicardi-Goutières Syndrome
Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Acrocyanosis, Hypothyro... ORPHA:51
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... OMIM:601346
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Seizure, Increased circulating co... ORPHA:1227
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, Muscular dystro... OMIM:226670
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Aspiration pneumonia ORPHA:216866
Congenital Myopathy 15
Waddling gait, Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variabili... OMIM:620161
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Small for gestational age, Elevated circulating creat... OMIM:301056
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachy... ORPHA:273
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Hepatomegaly, Ataxia, Spastic paraplegia, Hypotonia, Tetraplegia, Myoclonic s... ORPHA:254913
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Increased laxity of fingers... OMIM:254090
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dysphagia, Dystonia OMIM:304700
Shigellosis
Fatigue, Failure to thrive in infancy, Hypoglycemia, Anorexia, Abdominal pain, Myocarditis, Perit... ORPHA:810
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Congestive heart failure, Splenomega... ORPHA:354
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia OMIM:614619
Joubert Syndrome 6
Ataxia, Oculomotor apraxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated super... OMIM:610688
Poems Syndrome
Fatigue, Pain, Diabetes mellitus, Lipodystrophy, Pericardial effusion, Metaphyseal sclerosis, Wei... ORPHA:2905
Isaacs Syndrome
Weight loss ORPHA:84142
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Abnormal pulmonary valve cusp morphology, Right... ORPHA:97287
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Chest pain, Abnormal U wave, V... OMIM:611818
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Choreoathetosis, Seizure, Generalized hypotonia, Dystonia, Frequent falls OMIM:618416
Tetrasomy 5P
Recurrent respiratory infections, Congestive heart failure, Heart murmur, Pulmonary hypoplasia, P... ORPHA:3309
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Pr... ORPHA:329308
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia, Neonatal death OMIM:619167
Atelis Syndrome 1
Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder, Hypothyroidism, Anemia OMIM:620184
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Limb hypertonia OMIM:615918
Systemic Capillary Leak Syndrome
Fatigue, Pericarditis, Abdominal pain, Myocarditis, Weight loss, Myalgia, Hypotension, Constituti... ORPHA:188
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Generalized-onset seizure, Ataxia, Dystonia, Hypoglycemia, Increased hepatocellu... OMIM:220111
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... ORPHA:486815
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Subper... OMIM:618188
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Small for gestational age OMIM:166210
Hereditary Folate Malabsorption
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Anorexia, Megaloblastic anemia, F... ORPHA:90045
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy ORPHA:404451
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Depression, Irritability, Arth... ORPHA:66624
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di... ORPHA:563609
Pancreatic Colipase Deficiency
Cholelithiasis, Fat malabsorption, Steatorrhea ORPHA:309108
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Aica-Ribosuria Due To Atic Deficiency
Seizure, Hypoglycemia, Hypotonia OMIM:608688
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Dilated cardiomyopathy, Bradycardia, Hypoketotic hypoglycemia OMIM:610768
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Rheumatoid Arthritis
Fatigue, Swan neck-like deformities of the fingers, Vasculitis, Weight loss, Digital flexor tenos... OMIM:180300
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Hypotonia, Polyminimyoclonus, Fasciculations, Dysphagia, Vocal cord paresis OMIM:619574
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus OMIM:607876
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Episodic... ORPHA:444490
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Bilateral tonic-clonic seizure, ... OMIM:261515
Hyperprolinemia Type 2
Exercise intolerance, Abnormal circulating enzyme concentration or activity, Chronic fatigue, Abd... ORPHA:79101
Spinal Arteriovenous Metameric Syndrome
Fatigue, Congestive heart failure, Cutaneous angiolipomas, Bone pain, Arthralgia, Gangrene ORPHA:53721
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Chorea, Hypotonia, Seizure, Athetosis, Hypertonia, Dystonia, Sel... ORPHA:52503
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Hep... ORPHA:2388
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypercapnia, Hypotonia, Ankle clonus, Seizure, Gliosis, Dystonia OMIM:618222
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatospl... OMIM:259710
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexio... OMIM:255200
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase... OMIM:610377
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Anterior hypopituitaris... ORPHA:280195
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, V... ORPHA:116
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Seizure, Hypertonia, Gliosis, Spasticity ORPHA:88619
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Slurred speech, Ataxia, Dystonia OMIM:230650
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Valinemia
Failure to thrive, Hyperkinetic movements OMIM:277100
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Abnormal Hair, Joint Laxity, And Developmental Delay
Fatigue, Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Impulsivity, A... OMIM:261990
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Ventricular septal defect,... OMIM:617751
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased ci... OMIM:201810
Autosomal Recessive Centronuclear Myopathy
Waddling gait, Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, ... ORPHA:169186
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Axial hypotonia, Rigidity, Seizure, Myoclonus, Failure to thrive OMIM:300673
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Fatigue, Abdominal pain, Myocarditis, ... ORPHA:829
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Axonal degeneration, Diaphragmatic paralysis, Hypotonia, Plantar flexion contracture, Arthrogrypo... OMIM:620011
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Flexion contracture, Hepatospl... ORPHA:505248
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Exercise-induced myalgia, ... OMIM:619542
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... OMIM:251100
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo... ORPHA:567983
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Fatigue, Abnormal heart valve morpholo... ORPHA:781
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Cachexia OMIM:175500
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Tangier Disease
Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Hypochol... ORPHA:31150
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Salt craving, Hypoglycemia, Anorexia, Adrenal hypoplasia, P... ORPHA:95409
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring... OMIM:614653
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Steatorrhea, Persi... OMIM:260400
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Weight loss OMIM:188580
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma OMIM:212550
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Generaliz... OMIM:614299
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Seizure, Abnormal musc... OMIM:252150
Developmental And Epileptic Encephalopathy 72
Axial hypotonia, Infantile spasms, Cerebral atrophy, Hyperkinetic movements, Dysphagia OMIM:618374
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dy... OMIM:618056
Immunodeficiency 31C
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception OMIM:614162
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive OMIM:615453
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture, Knee flexion contracture, Foot dorsiflexor weakness, Fatigue, Hypoplasia of ... ORPHA:2020
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Osteomyelitis, Axonal degeneration, Pigmentary retinopat... ORPHA:88628
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... OMIM:613154
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Postorgasmic Illness Syndrome
Fatigue, Depression, Hypertension, Irritability, Palpitations ORPHA:279947
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Anemia, Hypocalcemia, Neutropenia, Cellulitis, Thrombocytopenia ORPHA:47
Joubert Syndrome 22
Molar tooth sign on MRI, Oculomotor apraxia, Temporal cortical atrophy OMIM:615665
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Abnormal repetitive manneris... ORPHA:500159
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural ... ORPHA:98805
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Axial hypotonia, Diabetes insipidus, Splenomegaly, C... OMIM:225750
Immunodeficiency 27A
Pneumonia, Splenomegaly, Hepatosplenomegaly, Weight loss, Increased circulating IgG level, Increa... OMIM:209950
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Weight loss, Honeycomb... ORPHA:79127
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Small for gestational age, Hypergonadotropic hypogona... OMIM:227650
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Encephalitis Lethargica
Urinary incontinence, Bowel incontinence, Upper limb muscle weakness, Limb pain, Myalgia, Bradyca... ORPHA:83600
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dystonia, Spasticity, Cerebra... OMIM:611390
Shashi-Pena Syndrome
Hypoglycemia, Hypotonia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:617190
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom... OMIM:605373
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa... ORPHA:210136
Filippi Syndrome
Cerebellar atrophy, Seizure, Decreased body weight, Dystonia OMIM:272440
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Sotos Syndrome
Aggressive behavior, Poor coordination, Hypotonia, Increased body weight, Seizure, Glucose intole... OMIM:117550
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Oculomotor apraxia OMIM:618161
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Limb joint contracture, Tremor... OMIM:620327
Optic Atrophy 11
Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Hypotonia, Dysmetria, Seizure, Athetosis, Hype... OMIM:617302
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100082
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy ORPHA:97
Duodenal Atresia
Duodenal atresia OMIM:223400
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Axial hypotonia, Ataxia, Dysmetria, Seizure, Dystonia, Oculomotor apraxia, Spasticity, Cerebellar... OMIM:618087
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Hypotonia, Cerebral atrophy, Seizure, Myoclonus, Generalized hypotonia, Join... OMIM:614462
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Listeriosis
Back pain, Liver abscess, Arthralgia, Cholecystitis, Chills, Fatigue, Ataxia, Abdominal pain, Abn... ORPHA:533
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Bilateral ... OMIM:242900
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... ORPHA:3111
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Myositis, Abnormality of ... ORPHA:99845
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Ataxia, Oral-pharyngeal dysphagia, Abnormal brainstem MRI signal intensi... ORPHA:254930
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Progressive cerebellar ataxia, Progre... ORPHA:513436
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Dilated ca... OMIM:230500
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anu... OMIM:615710
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Prolonged neonatal j... ORPHA:90673
Sheehan Syndrome
Orthostatic hypotension, Chronic fatigue, Hypoglycemia, Obesity, Arthralgia, Palpitations, Bradyc... ORPHA:91355
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia OMIM:618624
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Insulin insensitivity,... OMIM:602668
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... OMIM:222700
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Sudden death, Atrioventricular block, Complete heart block with narrow QRS ... OMIM:140400
Graft Versus Host Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Myosi... ORPHA:39812
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Small for gestational age, Hypergonadotropic hypogona... OMIM:600901
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Depression, Irritability, Myoclonic spasms, Laryngeal dystonia, Hy... ORPHA:36913
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Asplenia, Splenomegaly, Pancreatic cysts,... OMIM:208540
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:2518
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Splenomegaly, Hypotonia, Dysphagia, Gait at... OMIM:257220
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve... ORPHA:3208
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... OMIM:605808
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl... ORPHA:169189
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Multiple joint contractures, Bilateral tonic-clonic seizure... ORPHA:447997
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Pleuritis, Weight loss OMIM:617321
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Hyperechogenic pancreas, Pa... OMIM:617052
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty... ORPHA:596
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni... OMIM:618886
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Atrophy of the spinal cord, Babinski sign, Elbow flexion contracture, Hypotonia,... ORPHA:447757
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue, Short toe, Flexion contracture, Talipes equinovarus, Failure to thrive ORPHA:98791
Cryptogenic Organizing Pneumonia
Fatigue, Cyanosis, Anorexia, Night sweats, Weight loss, Hypoxemia, Arthralgia, Chest pain ORPHA:1302
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Hypotonia, Seizure, Gallbladder ... OMIM:250100
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration, Muscle fiber inclusion bodies, Muscular ... OMIM:615426
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... OMIM:619743
Tick-Borne Encephalitis
Elevated hepatic transaminase, Skeletal muscle atrophy, Back pain, Abnormal medulla oblongata mor... ORPHA:297
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperpl... ORPHA:96181
Marburg Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Pericarditis, Tachycardia, Back pain, Hypoglycemia, Anorexi... ORPHA:99826
Chanarin-Dorfman Syndrome
Myopathy, Ataxia, Hepatic steatosis, Hepatomegaly OMIM:275630
Spinocerebellar Ataxia Type 6
Incoordination, Babinski sign, Dysphagia, Gait ataxia, Blepharospasm, Progressive cerebellar atax... ORPHA:98758
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Congenital hypothyroidism, Myoclonus OMIM:619609
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic... ORPHA:1493
Lig4 Syndrome
Pancytopenia, Small for gestational age, Cryptorchidism, Acute lymphoblastic leukemia, Type II di... OMIM:606593
Alg8-Cdg
Hyponatremia, Abnormality of subcutaneous fat tissue, Small for gestational age, Anemia, Camptoda... ORPHA:79325
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Focal hyperkinetic se... ORPHA:98784
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... OMIM:123700
Septo-Optic Dysplasia Spectrum
Fatigue, Maternal diabetes, Obesity, Aplasia/Hypoplasia of the cerebellum, Polydipsia, Agenesis o... ORPHA:3157
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia, Dysphagia OMIM:615750
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, At... ORPHA:2131
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... OMIM:254900
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia OMIM:619780
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Senior-Loken Syndrome 9
Macular degeneration, Tubulointerstitial nephritis, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Isovaleric Acidemia
Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Cockayne Syndrome
Progressive gait ataxia, Hypertonia, Congenital contracture, Gliosis, Intention tremor, Hepatomeg... ORPHA:191
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow ... ORPHA:381
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the epiphysis ... OMIM:618641
Papa Syndrome
Fatigue, Myositis, Arthralgia, Type I diabetes mellitus ORPHA:69126
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Tendon xanthomatosis, Obesi... ORPHA:412
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Nmda Receptor Encephalitis
Generalized-onset seizure, Involuntary movements, Oculogyric crisis, Rigidity, Focal-onset seizur... ORPHA:217253
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Combined Oxidative Phosphorylation Deficiency 49
Exercise intolerance, Ragged-red muscle fibers, Myalgia, Difficulty walking OMIM:619024
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Congestive heart failure, Pulmonary fibrosis, Pulmonary arterial hype... ORPHA:220393
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocell... OMIM:613989
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Axial hypotonia, Ankle flexion contracture, Choreoathetosis, Lower limb hyperton... ORPHA:319514
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Recurrent respiratory infections, Weight loss, Atrial septal defect, Hypertrophic c... ORPHA:1842
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal... OMIM:300578
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... OMIM:180860
Pelizaeus-Merzbacher Disease, Classic Form
Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Titubation, At... ORPHA:280219
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bicuspid aortic valve, Tics, Compulsive behaviors, Hepatic steatosis, Abnormal repetit... OMIM:619475
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Small for gestational age, Hypergonadotropic hypogona... OMIM:227645
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Arthralgia, Fatigue, Ataxia, Abdom... ORPHA:117
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Neonatal hypotonia, Seizure, Myoclonus, Hypotonia OMIM:616158
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Abnormal femu... ORPHA:324
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Weight loss, Reticulonodular pa... ORPHA:133
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Seizure, Dystonia, Spasticity OMIM:619286
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Arthrog... ORPHA:85212
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Enterocolitis, Abno... ORPHA:391487
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Elevated... OMIM:615422
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Abnormality of t... OMIM:214110
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Polysplenia, Cystic renal dyspl... OMIM:200995
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Maturity-onset diabetes of the ... ORPHA:1578
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Skeletal muscle atrophy, Elevated hepatic transaminase, Ataxia, Small for ges... OMIM:615471
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... ORPHA:485421
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... OMIM:603585
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hyperinsulinemia... ORPHA:508
Smith-Lemli-Opitz Syndrome
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Self-mutilation, Penoscrotal hyposp... OMIM:270400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Inguinal hernia, Failure to thrive, Recurrent urinary tract infections, Intermitten... OMIM:612541
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Arima Syndrome
Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... OMIM:243910
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Epileptic spasm, Infantile spasms, Generalized hypotonia, Dystonia, Decreased body ... OMIM:607906
Mcleod Syndrome
Hepatomegaly, Generalized-onset seizure, Elevated circulating aspartate aminotransferase concentr... OMIM:300842
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Chronic fatigue OMIM:234810
Farber Disease
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice... ORPHA:333
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:540
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Cerebellar vermis hypoplasia, Ankle flexion contracture, Elbow flexion contracture, Increased var... OMIM:619461
Autosomal Agammaglobulinemia
Fatigue, Failure to thrive, Hepatitis, Cellulitis ORPHA:33110
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating cre... OMIM:274150
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Hematochezia, Cardi... OMIM:615895
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal... ORPHA:731
Microtriplication 11Q24.1
Speech apraxia, Hyperlipidemia, Obesity, Seizure, Hyperkinetic movements, Generalized hypotonia, ... ORPHA:289522
Abeta Amyloidosis, Iowa Type
Myoclonus, Dysphagia ORPHA:324708
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Difficulty wa... ORPHA:119
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Satoyoshi Syndrome
Fatigue, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Gen... OMIM:600705
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... OMIM:248370
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Seizure, Progressive spastic quadriplegia, Nonprogressive ce... ORPHA:431361
9P13 Microdeletion Syndrome
Precocious puberty, Hand tremor, Myoclonus, Attention deficit hyperactivity disorder, Bruxism, Um... ORPHA:324313
Xfe Progeroid Syndrome
Hypertension, Failure to thrive, Cachexia OMIM:610965
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Multifocal seizures, Hypoglycemia, Aggressive behavior, Precocious puberty, Hypoton... OMIM:301066
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal cal... ORPHA:85138
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pneumothorax, Bronchiectasis, Weight loss, Pleural effusion ORPHA:411703
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas... ORPHA:33226
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Dysmetria, Depression, Increased muscle glycogen ... ORPHA:502423
Aarskog-Scott Syndrome
Congestive heart failure ORPHA:915
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Generalized-onset seizure, Facial hypotonia, Hypotonia, Gait ataxia, Dystonia, Spasticity, Abnorm... OMIM:617807
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Optic disc coloboma, Iris coloboma, Chorioretinal coloboma OMIM:602499
Evans Syndrome
Fatigue, Jaundice, Syncope, Epistaxis ORPHA:1959
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Hypotonia, Seizure, Joint contracture, Failure to thrive, Hypothyroidism OMIM:618005
Adrenomyodystrophy
Myopathy, Failure to thrive, Hepatic steatosis ORPHA:977
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Decreased activity of mitochondrial complex I, Pigmentary retinopathy, Decreased activity of mito... OMIM:600462
Syndromic Diarrhea
Villous atrophy, Gastritis, Colitis, Hypoplasia of the thymus, Hepatoblastoma ORPHA:84064
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... OMIM:277400
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Fail... OMIM:601808
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Hepatomegaly, Failure to thrive, Cyanosis, Ataxia, Bilateral tonic-clonic sei... OMIM:252010
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Finger clinodactyly, Short palm, Hyperglycemia... ORPHA:79474
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... ORPHA:769
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Mal De Débarquement
Fatigue, Unsteady gait, Gait imbalance ORPHA:210272
Joubert Syndrome 8
Molar tooth sign on MRI, Oculomotor apraxia, Hypertonia, Ataxia OMIM:612291
Capillary Malformation-Arteriovenous Malformation
Epistaxis, High-output congestive heart failure, Congestive heart failure, Telangiectasia, Abnorm... ORPHA:137667
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Weight l... ORPHA:85450
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Generalized hypotonia, Spasticity OMIM:618972
Erdheim-Chester Disease
Abnormal pericardium morphology, Congestive heart failure, Abnormal pulmonary interstitial morpho... ORPHA:35687
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals... OMIM:619424
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Hepatomegaly, Axial hypotonia, Hip contracture, Large for gestational age,... OMIM:300868
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Omphalocele, Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure... OMIM:619124
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate... OMIM:619573
Wieacker-Wolff Syndrome
Dystonia, Hypotonia, Cerebral atrophy, Congenital foot contractures, Seizure, Generalized hypoton... OMIM:314580
Kearns-Sayre Syndrome
Diabetes mellitus, Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricula... OMIM:530000
Hennekam-Beemer Syndrome
Fatigue, Telangiectasia of the skin, Camptodactyly of finger, Abdominal pain, Irritability, Hypot... ORPHA:2135
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... OMIM:139090
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Joubert Syndrome 16
Molar tooth sign on MRI, Oculomotor apraxia OMIM:614465
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp... ORPHA:699
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Atte... ORPHA:467166
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasia, Anemia, ... OMIM:603467
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, ... OMIM:606003
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Ataxia-Oculomotor Apraxia Type 4
Oculomotor apraxia, Ataxia, Obesity, Dystonia ORPHA:459033
Dermatomyositis
Fatigue, Pericarditis, Gangrene, Telangiectasia of the skin, Myocardial infarction, Myocarditis, ... ORPHA:221
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Fatigue, Myocarditis, Splenome... ORPHA:809
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Tetraplegia, Spasticity, Dy... ORPHA:496641
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Chronic f... ORPHA:1333
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Craniosynostosis,... OMIM:252500
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hypotonia, Depression, Seizure, Brain atrophy OMIM:620114
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Metachromatic Leukodystrophy, Adult Form
Chorea, Babinski sign, Neoplasm of the gallbladder, Clumsiness, Depression, Seizure, Progressive ... ORPHA:309271
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Diabetes mellitus, Cholangitis, Ov... ORPHA:69663
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Hypotonia, Failure to thrive ORPHA:2609
Developmental And Epileptic Encephalopathy 84
Epileptic spasm, Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Seizure, Generalized hypot... OMIM:618792
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Ataxia, Hypercapnia, Dilated c... OMIM:164310
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Fatigue, Telangiectasia of the skin, Abnormal pericardium morphology... ORPHA:679
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Werner Syndrome
Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Pulmonary artery ste... ORPHA:902
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Drumstick term... ORPHA:541423
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Congenital Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Ataxia, Hypotonia, Dysmetria, Hepatosplenomegaly, Seizure, Myoclon... ORPHA:93400
Developmental And Epileptic Encephalopathy 29
Axial hypotonia, Chorea, Cerebral atrophy, Myoclonic seizure, Blepharospasm, Limb dystonia, Spast... OMIM:616339
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endo... OMIM:602541
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Axial hypotonia, Splenomegaly, Jaundice, Hypotonia, ... OMIM:251290
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia OMIM:152700
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Severe mu... ORPHA:314655
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Small for gestational age, Hypergonadotropic hypogona... OMIM:227646
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:618116
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1... ORPHA:77293
Reynolds Syndrome
Fatigue, Hepatomegaly, Telangiectasia of the skin, Jaundice, Myalgia, Cirrhosis, Dysphagia, Mucos... ORPHA:779
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... ORPHA:29072
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Axial hypotonia, Corpus callosum atrophy, Cerebral atrophy, Seizure, Generali... OMIM:616875
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration OMIM:615919
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a... ORPHA:478029
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypotonia, Cerebral atrophy, Seizure, Hypertonia, Hyperkinetic movements, Failure to thrive, Cere... OMIM:236270
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Seizure, Attenti... OMIM:619680
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Failure to thrive in infancy, Spastic paraplegia, Flexion contracture, Seizure OMIM:619026
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Hepatic failure, Hypoglycemia, Brain atrophy OMIM:619355
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Neonatal hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Abnormal repetitive manneri... ORPHA:457351
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Failure t... OMIM:300972
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Axial hypotonia, Aggressive behavior, Hypotonia, Seizure, Hypertonia, Poor hand-e... OMIM:300352
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased endomysial conne... ORPHA:178148
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt... OMIM:150550
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis OMIM:611376
Congenital Macroglossia
Macroglossia, Abnormal hepatic glycogen storage ORPHA:2430
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Cachexia, Splenomegaly... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Renal insufficiency, Failure to thrive in infancy, Hypospadias, Hemolytic-uremic synd... OMIM:611209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Familial Cold Urticaria
Fatigue, Abdominal pain, Arthralgia, Myalgia, Polydipsia ORPHA:47045
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Hypoglycemia, Decrease... OMIM:615577
Metachromatic Leukodystrophy, Juvenile Form
Babinski sign, Clumsiness, Seizure, Progressive gait ataxia, Decerebrate rigidity, Generalized hy... ORPHA:309263
Metachromatic Leukodystrophy, Late Infantile Form
Babinski sign, Clumsiness, Gait ataxia, Seizure, Progressive gait ataxia, Decerebrate rigidity, G... ORPHA:309256
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dysph... ORPHA:163961
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Axial hypotonia, Microvesicular hepatic steatosis, Tetraplegia, Hepatocellular necr... OMIM:618278
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Fatigue, Cerebellar edema, Torticollis, Restlessness, Ataxia, Irritability OMIM:617186
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Myotonia Fluctuans
Fatigue, Spasticity of facial muscles, Myalgia, Gait disturbance, Choking episodes ORPHA:99734
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Dysmetria, Limb ataxia, Depression, Multiple lipomas, Distal amyotroph... OMIM:617675
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypoglycemia, Hypotonia, Generalized hypotonia, Failure to thrive OMIM:607143
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Lysosomal Acid Lipase Deficiency
Cachexia, Hypovolemia, Hepatosplenomegaly, Weight loss, Hypotension, Pulmonary arterial hypertens... ORPHA:275761
Kaposi Sarcoma
Fatigue, Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness, Ankle cl... ORPHA:88644
Acquired Purpura Fulminans
Thrombocytopenia, Acrocyanosis, Elevated circulating C-reactive protein concentration ORPHA:49566
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Rod-cone dystrophy, Cafe-au-lait spot, Cerebral cortical atrophy, Retinal degener... ORPHA:166035
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Pediatric Hepatocellular Carcinoma
Fatigue, Hepatomegaly, Abdominal pain, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis... ORPHA:33402
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Pulmona... ORPHA:3427
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... ORPHA:158048
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia OMIM:612952
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Inability to walk, Oculomotor apraxia, Ataxia OMIM:617563
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Dystonia OMIM:616684
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abnormal heart morphology, Hematochezia, Melena, Intestina... ORPHA:79076
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Nephroblastoma, Congenital diap... OMIM:194080
Alg9-Cdg
Villous atrophy, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplastic nipples, Bifid uvula ORPHA:79328
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hy... OMIM:130650
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Recurrent ... OMIM:309900
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Acute Liver Failure
Elevated hepatic transaminase, Incoordination, Ataxia, Hypoglycemia, Jaundice, Slurred speech, He... ORPHA:90062
Leukodystrophy, Progressive, Early Childhood-Onset
Appendicular spasticity, Axial hypotonia, Cerebral atrophy, Dystonia, Joint contracture OMIM:617762
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Hypotonia... OMIM:216360
Aceruloplasminemia
Retinal degeneration OMIM:604290
Pituitary Apoplexy
Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:95613
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Adiposis Dolorosa
Fatigue, Telangiectasia of the skin, Obesity, Depression, Arthralgia ORPHA:36397
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Fatigue, Sudde... ORPHA:36426
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Absence of l... ORPHA:79124
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Bruxism, Seizure, Athetosis, Irritability, Generalized hypoto... OMIM:613454
Jaberi-Elahi Syndrome
Appendicular spasticity, Bilateral tonic-clonic seizure, Tremor, Hypotonia, Dysmetria, Gait ataxi... OMIM:617988
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Thrombo... OMIM:259720
Lyme Disease
Fatigue, Atrioventricular block, Arthralgia, Myalgia, Arrhythmia ORPHA:91546
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... ORPHA:2070
Arterial Tortuosity Syndrome
Fatigue, Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Femo... ORPHA:3342
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Spasticity, Pallidal degeneration, Dysphagia, Dystonia OMIM:607236
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Failure to thrive, Flexion contracture OMIM:620240
Hellp Syndrome
Elevated hepatic transaminase, Back pain, Fatigue, Shoulder pain, Cerebral hemorrhage, Abdominal ... ORPHA:244242
Hemorrhagic Fever-Renal Syndrome
Shock, Elevated hepatic transaminase, Tachycardia, Back pain, Fatigue, Epistaxis, Abdominal pain,... ORPHA:340
Dubin-Johnson Syndrome
Fatigue, Hepatomegaly, Abdominal pain, Jaundice, Biliary tract abnormality, Abnormality of the liver ORPHA:234
Asparagine Synthetase Deficiency
Exaggerated startle response, Axial hypotonia, Caudate atrophy, Clonus, Tremor, Clonic seizure, S... OMIM:615574
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Cyanosis, Ataxia, Bilateral tonic-clonic seizure, Hypotonia, Cerebral atrophy... OMIM:618426
Prolidase Deficiency
Hepatomegaly, Hyperimidodipeptiduria, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:170100
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Sudden death, Bradycardia OMIM:608800
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal circulating enzyme concentration or activity, Ankle flexion contracture, A... ORPHA:100924
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Depression, Irri... ORPHA:94089
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... OMIM:300607
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Unsteady gait, Abnormality of the calf musculature... ORPHA:600
Acute Interstitial Pneumonia
Fatigue, Cyanosis, Pericardial effusion, Hypoxemia, Hypertension, Arthralgia, Chest pain, Myalgia ORPHA:79126
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Iridocyclitis, Parietal cortical at... ORPHA:412057
Dystonia-Deafness Syndrome 1
Generalized dystonia, Small for gestational age, Oculogyric crisis, Leg dystonia, Pseudobulbar pa... OMIM:607371
Kcnq2-Related Epileptic Encephalopathy
Epileptic spasm, Poor gross motor coordination, Hypotonia, Cerebral atrophy, Seizure, Dystonia, G... ORPHA:439218
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Loss of ambulation, Failure to thrive, Skeletal muscl... OMIM:619518
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, B-cell lymphoma, Colitis, Anoperineal fistula, Crohn'... OMIM:619381
Yellow Fever
Shock, Low back pain, Acute pancreatitis, Elevated circulating aspartate aminotransferase concent... ORPHA:99829
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Generalized-onset seizure, Rigidity, Babinski sign, Abnormal pyrami... OMIM:617527
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, He... OMIM:615846
Fatal Familial Insomnia
Ataxia, Weight loss, Myoclonus, Dysphagia, Neuronal loss in central nervous system OMIM:600072
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ataxia, Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimu... OMIM:610978
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss, Hypovolemic shock, Arrhythmia, Recurrent upper and low... ORPHA:171876
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... OMIM:620024
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Decreased circulating aldosterone level, Lon... OMIM:202010
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Angina pectoris, Cachexia, Telangiectasia ORPHA:109
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Fatigue, Sudde... ORPHA:537
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Dubowitz Syndrome
Hyperactivity, Inguinal hernia, Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblastic... OMIM:223370
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Xanthelasma, Progressive... OMIM:277460
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Chronic fatigue, Tricuspid stenosis, Right ventricular failure, Ar... ORPHA:100078
Unclassified Myelodysplastic Syndrome
Fatigue, Abnormal lactate dehydrogenase level, Night sweats ORPHA:98827
Nabais Sa-De Vries Syndrome, Type 2
Failure to thrive in infancy, Chorea, Hemiparesis, Seizure, Dystonia, Neonatal hypotonia, Hypothy... OMIM:618829
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... OMIM:240300
Joubert Syndrome 1
Hyperactivity, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Brainstem dys... OMIM:213300
Marfan Syndrome
Mitral valve calcification, Spontaneous pneumothorax, Cachexia, Congestive heart failure, Emphyse... ORPHA:558
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Proximal renal tu... ORPHA:2785
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Limb dystonia OMIM:620269
Developmental And Epileptic Encephalopathy 38
Multifocal seizures, Ataxia, Axial hypotonia, Irritability, Status epilepticus, Dystonia, Limb hy... OMIM:617020
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Tonic seizure, Abnormal rep... OMIM:615873
Holoprosencephaly
Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Congenital diaphragma... ORPHA:2162
Trichohepatoenteric Syndrome 1
Villous atrophy, Bifid uvula OMIM:222470
Cadds
Elevated hepatic transaminase, Cerebellar atrophy, Cholangitis, Adrenal hypoplasia, Cholestasis, ... ORPHA:369942
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Tularemia
Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Lymphadenopathy, Anemia, Thr... ORPHA:3392
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Axial hypotonia, Hypoglycemia, Small for gestatio... OMIM:613658
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... OMIM:301050
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypotonia, Neonatal hypoglycemia, Obesity, Generalized hypotonia OMIM:608624
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Partington Syndrome
Lower limb spasticity, Seizure, Limb dystonia ORPHA:94083
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Hypotonia, Seizure, Myoclonus, ... OMIM:300672
Erythrocytosis, Familial, 1
Fatigue, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Hypertension OMIM:133100
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Autosomal Recessive Cutis Laxa Type 2A
Inguinal hernia, Generalized-onset seizure, Ataxia, Slurred speech, Hypotonia, Seizure, Athetosis... ORPHA:357058
Micro Syndrome
Abnormality of retinal pigmentation, Cryptorchidism, Optic atrophy, Retinal coloboma, Cerebral co... ORPHA:2510
Scorpion Envenomation
Restlessness, Hemifacial spasm, Acute pancreatitis, Ataxia, Elevated circulating aspartate aminot... ORPHA:466677
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Subdural... OMIM:620278
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Portal hypertension, Spastic tetraplegia, Hypotonia, Hepatosplenomegaly, Cer... OMIM:609136
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia, Hypotonia, Seizure, Umbilical hernia OMIM:614501
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... OMIM:300855
Pseudohypoparathyroidism Type 2
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Myoclonic spasms, Laryn... ORPHA:94090
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Involuntary movements, Decreased response to growth hormone stimu... ORPHA:79443
Cap Polyposis
Hematochezia, Weight loss ORPHA:160148
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Hypertonia, Gliosis, ... ORPHA:268261
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Fatigue, Overweight, Congestive heart failure, Obesity, Arthralgia... ORPHA:247353
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Lead Poisoning
Fatigue, Small for gestational age, Anorexia, Abdominal pain, Depression, Hypertension, Abdominal... ORPHA:330015
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Weight loss, Hepatosplenomegaly, Panniculitis, Chills ORPHA:86884
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal... ORPHA:79277
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Congenital diaphragmatic hernia, Obesity, Choreoathetosis, Seizure, Attention def... ORPHA:261197
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Congestive heart failure, Microve... OMIM:617156
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Hypoglycosylation of alpha-dystroglycan, Cerebellar vermis hypoplasia, Abnormal brainstem morphol... ORPHA:370997
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism, Aggressive behavior OMIM:606688
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Hypotonia, My... OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Hypotonia, Seizure, Progressive spastic quadriplegia, Con... ORPHA:521426
Microsporidiosis
Pneumonia, Bronchitis, Cachexia, Myocarditis, Endocarditis, Weight loss, Bronchiolitis ORPHA:2552
Good Syndrome
Abnormal leukocyte morphology, Recurrent urinary tract infections, Diabetes mellitus, Mediastinal... ORPHA:169105
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdu... OMIM:615368
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Red urine, Osteolysis, Corneal scarring... OMIM:263700
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Unilateral Polymicrogyria
Axial hypotonia, Cyanosis, Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic ... ORPHA:268943
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Depression ORPHA:663
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Dilated cardiomyopathy, Abnormal cerebellar cortex morphology, Gait ata... ORPHA:70595
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Pancreatoblastoma, Pancreati... ORPHA:99889
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Weight loss ORPHA:98897
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Overlapping toe, Pericardial effusion, Adducted thumb, Cutaneous syndactyly,... OMIM:617822
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical increas... ORPHA:96253
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... OMIM:617718
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration ORPHA:284289
Familial Thrombocytosis
Transient ischemic attack, Splenomegaly, Weight loss, Syncope, Cerebral ischemia, Pulmonary arter... ORPHA:71493
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsi... ORPHA:534
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy OMIM:617622
Menkes Disease
Inguinal hernia, Hypoglycemia, Chorea, Hypotonia, Atypical scarring of skin, Seizure, Hypertonia,... ORPHA:565
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Osteoporosi... OMIM:613990
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Weight loss OMIM:613239
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Ataxia, Portal hypertension, Hepatic fibrosis, Dystonia, Spasticity OMIM:617341
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Pneumocystosis
Multiple pulmonary cysts, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Incr... ORPHA:723
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Cyanosis, Ataxia, Limb-girdle muscle weakness, Choking episodes, Distal amyotrophy... ORPHA:98914
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Giant cell hepatitis ORPHA:79095
Congenital Myasthenic Syndrome
Waddling gait, Cyanosis, Ataxia, Limb-girdle muscle weakness, Choking episodes, Distal amyotrophy... ORPHA:590
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100075
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Hypoxemia, N... OMIM:308230
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Carney Complex, Type 1
Congestive heart failure, Cardiac myxoma OMIM:160980
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Abno... ORPHA:193
Myopathy With Lactic Acidosis, Hereditary
Exercise intolerance, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Palpitations, Increased ... OMIM:255125
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Anemia, Neutropenia,... ORPHA:398124
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... ORPHA:90363
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Decreased response to growth hormone stimulation test, Flexion contracture, Hypoton... OMIM:616007
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Spastic tetraplegia, Neurodegeneration, Difficulty walking, Spasticity OMIM:618476
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypotonia, Seizure, Generalized hypotonia, Dystonia, Decreased methylmalonyl-CoA ... OMIM:277410
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Martsolf Syndrome 1
Cardiomyopathy, Recurrent respiratory infections, Cardiac arrest, Congestive heart failure OMIM:212720
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... OMIM:619127
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Involuntary movements, Chorea, Hypotonia, Cerebral atrophy, Bruxism, ... OMIM:617804
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia, Amelogenesis imperfecta OMIM:612783
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Failure to thrive in infancy, Thrombocytopenia, Tongue thrusting, Anemia, Self-inj... ORPHA:261323
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hem... ORPHA:512
Gaisböck Syndrome
Fatigue, Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hyp... ORPHA:90041
Episodic Ataxia, Type 2
Episodic ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Dystonia OMIM:108500
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Vasculitis, Bone pain, Weight loss, Abnormal metaphysis morphology ORPHA:324964
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:227810
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Agenesis of ... ORPHA:1606
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Hiatus hernia, Increased connective tissue, Proximal amyotrophy, Mitra... OMIM:606408
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Decreased body weight, Ataxia, Photosensitive tonic-clonic seizure, Flexion c... OMIM:300243
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Axonal degeneration, Seizure, Generalized hypotonia, Dystonia, Spasticity, Gl... OMIM:616811
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Hypoglycemia, Infantile spasms, Atrophy of the spinal cord, Jaundice, Hypotonia, Cerebral... ORPHA:79282
Primary Biliary Cholangitis
Fatigue, Orthostatic hypotension, Portal hypertension, Jaundice, Biliary cirrhosis, Hepatitis, Ab... ORPHA:186
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Splenomegaly, Hypotonia, Seizure, Neurodegeneration OMIM:620210
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal circulating enzyme concentration or activity, Decreased muscle mass, Widened atrophic sc... ORPHA:1900
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Hydrocele testis, Multiple lipomas, Nephroblastoma, Ovarian serous cystadenoma, Enla... ORPHA:276280
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Ataxia, Cardiac conduction abnormality, Abnormality of Krebs cyc... ORPHA:255210
Gaucher Disease
Fatigue, Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal peri... ORPHA:355
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Optic atrophy ORPHA:543470
Erythrocytosis, Familial, 2
Fatigue, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Failure to thrive OMIM:263400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Braddock-Carey Syndrome 1
Enamel hypoplasia, Multicystic kidney dysplasia, Thrombocytopenia, Camptodactyly OMIM:619980
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Vici Syndrome
Recurrent respiratory infections, Atrial septal defect, Failure to thrive, Congestive heart failu... OMIM:242840
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Babinski sign, Flexion contracture, Spastic paraplegia, Ankle clonus OMIM:609541
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Cachexia, Splenomegaly, Aortic valv... ORPHA:2072
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Diabetes mellitus, Chronic f... ORPHA:97283
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa... ORPHA:99413
Leukodystrophy, Hypomyelinating, 10
Axial hypotonia, Babinski sign, Cerebral atrophy, Seizure, Hyperkinetic movements, Spasticity, Fa... OMIM:616420
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:83313
Orthostatic Hypotension 1
Seizure, Hypotonia, Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... ORPHA:292
Argininemia
Cerebellar atrophy, Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, S... OMIM:207800
Triosephosphate Isomerase Deficiency
Splenomegaly, Congestive heart failure, Failure to thrive OMIM:615512
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Abnormal heart valve morphology, Splenomegaly, Congestive heart... ORPHA:579
Cinca Syndrome
Fatigue, Hepatomegaly, Splenomegaly, Arthralgia, Myalgia, Brachydactyly ORPHA:1451
Prolidase Deficiency
Abnormality of retinal pigmentation, Crusting erythematous dermatitis, White forelock ORPHA:742
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... ORPHA:790
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia, Nephrotic s... ORPHA:93552
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Arthrogryposis m... OMIM:608013
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Nongranulomatous uveitis, Choroidal neovascular... ORPHA:91500
Autoimmune Pulmonary Alveolar Proteinosis
Fatigue, Cyanosis, Clubbing, Weight loss, Hypoxemia, Chest pain, Increased circulating lactate de... ORPHA:747
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Joubert Syndrome 9
Molar tooth sign on MRI, Oculomotor apraxia OMIM:612285
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Fatigue, Ataxia, Hepatic failure, Rhabdomyolysis, ST segment depression, H... ORPHA:466650
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity, Urinary incontinence, Spastic gait ORPHA:320365
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Chronic... OMIM:307030
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Arthritis, Mitochondrial swelling ORPHA:397744
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigue, Myopathy, Abnormal dental enamel morphology ORPHA:257
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Inguinal hernia, Ventricular sept... OMIM:619525
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Partial absence of cerebellar vermis, Skeletal muscle hypertrophy, Macroglo... OMIM:613150
Joubert Syndrome With Renal Defect
Ataxia, Tremor, Oculomotor apraxia, Gait disturbance, Molar tooth sign on MRI, Abnormality of the... ORPHA:220497
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Endocrine-Cerebroosteodysplasia
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged k... OMIM:612651
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Neutropenia, Steatorrhea, Failure to th... OMIM:617941
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypersensitivity pneumonitis, Increased circulating IgE level, Weight loss, Pleural ... ORPHA:2902
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Exercise intolerance, Rhabdomyolysis, Increased muscle lipid content, Exercise-induced myalgia, M... ORPHA:228302
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Axial hypotonia, Clonus, Flexion contracture, Elbo... OMIM:617301
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Cachexia ORPHA:1969
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Cryptorchidism, Defective DNA repair after ultraviol... ORPHA:33364
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hyperlipidemia, Hepatic calcification, Seizure, Hepatic failure, Hypoketotic hypogl... ORPHA:157
Gabriele-De Vries Syndrome
Facial hypotonia, Decreased response to growth hormone stimulation test, Small for gestational ag... ORPHA:506358
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Cohen Syndrome
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... OMIM:216550
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Fatigue, Asthenia OMIM:618107
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Infantile axial hypotonia, Focal-onset seizure, Spastic tetraplegia,... ORPHA:300570
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Inguinal hernia, Transient neutropenia, Multicystic kidney dysplasia, Chronic ... ORPHA:500095
Kawasaki Disease
Fatigue, Pericarditis, Abnormal heart valve morphology, Abdominal pain, Myocarditis, Congestive h... ORPHA:2331
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Cholera
Seizure, Irritability, Hypoglycemia ORPHA:173
Carney Triad
Gastrointestinal hemorrhage, Fatigue, Tachycardia, Anorexia, Abdominal pain, Leiomyosarcoma, Hype... ORPHA:139411
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Botulism
Fatigue, Arrhythmia, Dysphagia, Abdominal pain ORPHA:1267
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Niemann-Pick Disease, Type C2
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Hypotonia, Dysphagia, Seizure, Prolonged neonatal j... OMIM:607625
Mixed-Type Autoimmune Hemolytic Anemia
Fatigue, Tachycardia, Arthralgia ORPHA:90036
Lesch-Nyhan Syndrome
Hypotonia, Dysphagia, Opisthotonus, Choreoathetosis, Seizure, Self-injurious behavior, Abnormalit... OMIM:300322
Beemer-Ertbruggen Syndrome
Cryptorchidism, Increased bone mineral density, Thrombocytopenia ORPHA:1237
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Oculodentodigital Dysplasia
Ataxia, Abnormal dental enamel morphology, Camptodactyly of finger, Hypoglycemia, Seizure, Spasti... ORPHA:2710
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Thymic Carcinoma
Fatigue, Chest pain, Weight loss ORPHA:99868
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Acute Monoblastic/Monocytic Leukemia
Fatigue, Increased circulating lactate dehydrogenase concentration, Anorexia, Weight loss ORPHA:514
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Focal Myositis
Weight loss ORPHA:48918
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Weight loss ORPHA:131
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Birk-Landau-Perez Syndrome
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Ap... OMIM:617595
Zygomycosis
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Fasciitis, Diabetes mellitus, Epistaxis, Abdo... ORPHA:73263
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysphagia,... OMIM:606002
Bacterial Toxic-Shock Syndrome
Fasciitis, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine... ORPHA:36234
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Abnormal midbrain morphology,... ORPHA:444072
Lipoid Proteinosis
Seizure, Scarring, Dysphagia, Dystonia ORPHA:530
Klatskin Tumor
Fatigue, Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, We... ORPHA:99978
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Diffuse cerebral atrophy, Hepatosplenomegaly, Seizure, Ab... ORPHA:79255
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Chronic fatigue, Anorexia, Intrahepati... ORPHA:97282
Trisomy 18
Atrial septal defect, Ventricular septal defect, Cachexia ORPHA:3380
Primary Familial Polycythemia
Fatigue, Arthralgia, Epistaxis, Abdominal pain ORPHA:90042
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Abdominal... OMIM:229600
Wiedemann-Rautenstrauch Syndrome
Congenital malformation of the left heart, Chiari type I malformation, Hepatic steatosis, Loss of... ORPHA:3455
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Failure to thrive, Thrombocytopenia OMIM:230900
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F... OMIM:610651
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pons, Hypoplasia of th... OMIM:618325
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Arthralgia, Elevated hepatic iron concentration ORPHA:254704
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Adrenal ... OMIM:611812
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Fatigue, Granulomatous cholangitis, Cholestasis, Abnormal intrahep... ORPHA:562639
Deeah Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:619004
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
47,Xyy Syndrome
Hyperactivity, Impulsivity, Abnormal brainstem morphology, Finger clinodactyly, Attention deficit... ORPHA:8
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcification of dental enamel... ORPHA:169090
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Congenital Analbuminemia
Fatigue, Lipodystrophy, Small for gestational age, Obesity, Low pulse pressure ORPHA:86816
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Bardet-Biedl Syndrome
Cryptorchidism, Pigmentary retinopathy ORPHA:110
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, A... ORPHA:68
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia, Cachexia, Decreased body weight ORPHA:800
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Diabetes mellitus, Chronic f... ORPHA:97280
Chédiak-Higashi Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Recurrent bacterial skin infections, Hyp... ORPHA:167
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Noonan Syndrome 4
Ureteral duplication, Large for gestational age, Cryptorchidism, Hydronephrosis, Thrombocytopenia OMIM:610733
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocyt... ORPHA:3322
Cold Agglutinin Disease
Fatigue, Hepatomegaly, Back pain, Splenomegaly, Arthralgia ORPHA:56425
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Cyanosis, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Po... OMIM:306955
Familial Cold Autoinflammatory Syndrome 1
Fatigue, Chills, Arthralgia, Myalgia OMIM:120100
New-Onset Refractory Status Epilepticus
Fatigue, Cerebellar edema ORPHA:363558
Immunodeficiency 22
Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to thrive, Thr... OMIM:615758
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Atria... OMIM:617403
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Unsteady gait, Agenesis of corpus callosum, Midline brainstem cleft OMIM:617542
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Tetralogy of Fallot, Obesity, Weight loss, Abnormal cardiac septum mor... ORPHA:251071
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina p... ORPHA:900
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Lymphadenopathy, Cellulitis, Decreased eosinophil c... ORPHA:2686
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Axial hypotonia, Bilateral tonic-clonic seizure, Splenomegaly, Cerebral atrophy, Ge... OMIM:617050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Flexion contracture, Knee flexion contracture, Arthralgi... OMIM:619503
Gaucher Disease Type 3
Fatigue, Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Ataxia, Peric... ORPHA:77261
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Increased circulating lactate dehydrogenase... ORPHA:50918
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Attention deficit hyperactivity... OMIM:619005
Subependymal Nodular Heterotopia
Focal-onset seizure, Seizure, Limb myoclonus, Focal aware seizure ORPHA:101030
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Recurrent upper ... ORPHA:508542
Brucellosis
Liver abscess, Anorexia, Abnormality of the liver, Arthralgia, Chills, Fatigue, Hepatomegaly, Abd... ORPHA:1304
Thyroid Hypoplasia
Fatigue, Macroglossia, Jaundice ORPHA:95720
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Seizure, Agitation, Bruxism, Recurrent hand flapping OMIM:617903
Kabuki Syndrome 2
Hypotonia, Seizure, Generalized hypotonia, Decreased body weight, Neonatal hypoglycemia OMIM:300867
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Bloom Syndrome
Syndactyly, Small for gestational age, Hand polydactyly, Type II diabetes mellitus, Facial telang... OMIM:210900
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration OMIM:272200
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Seizure, Dysphagia, Limb hypertonia OMIM:619909
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia OMIM:105300
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Gallbladder Neuroendocrine Tumor
Chronic fatigue, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundic... ORPHA:100086
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Fatigue, Toe syndactyly, Bilateral camptodactyly, Talipes equinovarus, Umbilical herni... OMIM:619234
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Bilateral tonic-clonic seizure, Seizure, Myoclonus, Infantile muscular hypotonia, Oculomo... ORPHA:247262
Tay-Sachs Disease
Exaggerated startle response, Hypotonia, Seizure, Hypertonia, Generalized hypotonia OMIM:272800
Immunodeficiency 23
Ataxia, Hypotonia, Myoclonus, Generalized hypotonia, Failure to thrive, Cortical myoclonus OMIM:615816
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice OMIM:233600
Diets-Jongmans Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavior, Seizure, Gliosis, Generali... OMIM:618846
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Failure to thrive, Ventricular septal defect, Small for gestational age, An... ORPHA:464311
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Ataxia, Progressive flexion contractures, Repetitive compulsive behavior, Chorea, Self-... ORPHA:522077
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Brain atrophy OMIM:607131
Lathosterolosis
Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Hypotonia, Seizure, Myoclonus, Hepatic... ORPHA:46059
Joubert Syndrome With Ocular Defect
Ataxia, Tremor, Oculomotor apraxia, Gait disturbance, Molar tooth sign on MRI, Abnormality of the... ORPHA:220493
Liposarcoma
Fatigue, Abdominal pain, Weight loss ORPHA:69078
Pulmonary Alveolar Microlithiasis
Fatigue, Hepatomegaly, Mitral valve calcification, Cyanosis, Right ventricular failure, Increased... ORPHA:60025
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures, Abnormality of extrapyramidal motor fu... ORPHA:320406
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Hypertrophic cardiomyopathy, Slender build ORPHA:1328
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Failure to thrive, Acrocyanosis, Ataxia ORPHA:51188
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca... ORPHA:90349
Macs Syndrome
Fatigue, Umbilical hernia, Brachydactyly, Decreased body weight OMIM:613075
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Adrenomyeloneuropathy
Back pain, Fatigue, Very long chain fatty acid accumulation, Urinary incontinence, Bowel incontin... ORPHA:139399
African Trypanosomiasis
Urinary incontinence, Choreoathetosis, Arthralgia, Fatigue, Abnormal EKG, Hepatomegaly, Hepatospl... ORPHA:3385
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Bradycardia, Pulmonary insuffic... OMIM:614437
Parathyroid Carcinoma
Fatigue, Pancreatic adenocarcinoma, Shortened QT interval, Bone pain, Weight loss, Episodic abdom... ORPHA:143
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morp... ORPHA:3068
Fumarase Deficiency
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Optic atrophy, Cerebral atrophy... OMIM:606812
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Depression, Fatigue, Prolonged neonatal jaundice ORPHA:99832
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Tetrasomy 9P
Myositis, Biliary atresia, Inappropriate behavior, Clinodactyly of the 5th finger, Patent foramen... ORPHA:3310
Revesz Syndrome
Exudative retinopathy, Abnormality of chromosome stability, Fine, reticulate skin pigmentation, L... OMIM:268130
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Elevated circulating alkaline phosphatase concentration, Bone pain, Bowing of the legs ORPHA:89937
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Fucosidosis
Hepatomegaly, Splenomegaly, Flexion contracture, Spastic tetraplegia, Hypotonia, Cerebral atrophy... OMIM:230000
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizur... OMIM:617799
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Pulmonary arterial hypertension OMIM:616482
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Overhydrated Hereditary Stomatocytosis
Fatigue, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:185000
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisoval... OMIM:253270
Congenital Dyserythropoietic Anemia Type Iii
Melena, Fatigue, Elevated hepatic transaminase ORPHA:98870
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity, Cereb... OMIM:616840
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutrope... OMIM:214500
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... ORPHA:168558
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in in... ORPHA:247598
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Fatigue, Abnormal dental enamel morphology, Epistaxis, Abdominal pai... ORPHA:79430
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure ORPHA:2505
Angiostrongyliasis
Fatigue, Abdominal pain, Irritability, Arthralgia, Myalgia, Neck pain, Pain ORPHA:74
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... ORPHA:90794
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Aromatase Deficiency
Eunuchoid habitus, Insulin resistance, Bone pain, Obesity, Genu valgum, Type II diabetes mellitus... ORPHA:91
Hardikar Syndrome
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoplasia of the bladder, Renal insu... OMIM:301068
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Sinusitis, Retinal pigment epithelial mottling, Recurrent pneumonia,... OMIM:251260
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Seizure, Hyperkinetic movements,... ORPHA:3166
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hepatocellular car... OMIM:232240
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h... ORPHA:231160
Hereditary Xanthinuria
Reduced xanthine dehydrogenase level, Chronic fatigue, Sulfite oxidase deficiency, Flank pain, Al... ORPHA:3467
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia ORPHA:35173
Semilobar Holoprosencephaly
Inability to walk, Flexion contracture, Abnormal brainstem morphology, Abnormal heart morphology,... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Flexion contracture, Abnormal brainstem morphology, Abnormal heart morphology,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Flexion contracture, Abnormal brainstem morphology, Abnormal heart morphology,... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Flexion contracture, Abnormal brainstem morphology, Abnormal heart morphology,... ORPHA:93924
Renal Nutcracker Syndrome
Fatigue, Orthostatic hypotension, Tachycardia, Abdominal pain, Flank pain, Weight loss, Syncope ORPHA:71273
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Intraventricular hemorrhage, Recurrent pneumo... ORPHA:420741
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections, Cachexia ORPHA:647
Pituicytoma
Fatigue ORPHA:251623
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Joubert Syndrome 2
Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Postaxial hand polydactyly, Postaxial... OMIM:608091
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Hypospadias, Pure red cell aplasia, Renal agen... ORPHA:124
Nocardiosis
Fatigue, Pericarditis, Liver abscess, Abnormal heart valve morphology, Anorexia, Peritonitis, Nig... ORPHA:31204
Seckel Syndrome
Cachexia ORPHA:808
Coccidioidomycosis
Fatigue, Pericarditis, Abnormality of the spleen, Peritonitis, Vasculitis, Atypical scarring of s... ORPHA:228123
Glioblastoma
Fatigue, Emotional lability ORPHA:360
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Cryptorchidism, Optic atrophy, Uveiti... ORPHA:90321
Igg4-Related Retroperitoneal Fibrosis
Fatigue, Low back pain, Anorexia, Abdominal pain, Flank pain, Renovascular hypertension, Large ve... ORPHA:49041
Truncus Arteriosus
Aortic regurgitation, Atrial septal defect, Tachycardia, Pulmonary edema, Ventricular septal defe... ORPHA:3384
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Facial hypotonia, Ataxia, Severe muscular hypotonia, Seizure, Dystonia ORPHA:438216
Myasthenic Syndrome, Congenital, 21, Presynaptic
Exercise intolerance, Fatigue, Cyanosis, Knee flexion contracture, Difficulty walking, Weakness o... OMIM:617239
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis OMIM:231050
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Muckle-Wells Syndrome
Myalgia, Clubbing of fingers, Arthralgia, Chronic fatigue OMIM:191900
Immunodeficiency 70
Achalasia, Chronic fatigue OMIM:618969
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Takenouchi-Kosaki Syndrome
Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Cryptorc... OMIM:616737
Iatrogenic Botulism
Fatigue, Orthostatic hypotension, Dysphagia ORPHA:254509
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, Tonic seizure, Seizure, Irritability, Hypertoni... OMIM:618367
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:192
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Intracranial hemorrhage, Short palm... OMIM:613406
Gerstmann-Straussler-Scheinker Syndrome
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia ORPHA:356
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Knee flexion contracture, Calf muscle hypertrophy, Agenesis of corpus callosum, Mu... OMIM:618733
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Weight loss ORPHA:33577
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Cornelia De Lange Syndrome 1
Inguinal hernia, Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Hiatus hernia, Ectopi... OMIM:122470
Dominant Beta-Thalassemia
Failure to thrive in infancy, Splenomegaly, High-output congestive heart failure, Dilated cardiom... ORPHA:231226
Usher Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:886
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Aplastic anemia, Renal agenesis, Hypogonadism, Micropenis, Thromb... OMIM:300514
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Axial hypotonia, Ataxia, Small for gestational age, Hiatus hernia, Spastic te... OMIM:251300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Osteolysis involvin... ORPHA:464321
Beta-Thalassemia Intermedia
Hepatomegaly, High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Pulmonary a... ORPHA:231222
Granulomatosis With Polyangiitis
Fatigue, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight ... OMIM:608710
Wiskott-Aldrich Syndrome
Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytop... ORPHA:906
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Orofaciodigital Syndrome Type 3
Oculomotor apraxia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia ORPHA:2752
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrophy, Cerebral cortical ... ORPHA:2822
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Ventricular tachycardia, Cardiomyocyte mitochondrial prolif... ORPHA:423
Hurler Syndrome
Recurrent otitis media, Neurodegeneration, Retinal degeneration OMIM:607014
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Ataxia, Babinski sign, Hypotonia, Gait ataxia, Seizure, Hyperkinetic movement... OMIM:620089
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration OMIM:301054
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... ORPHA:91347
Acromegaly
Fatigue, Diabetes mellitus, Macrodactyly, Tapered finger, Depression, Macroglossia, Hypertension,... ORPHA:963
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... OMIM:608233
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Retinal degeneration ORPHA:96179
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Jaundice, Seizure, Chronic hepatic failure ORPHA:469
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Dysmetria, Knee flexion contracture, Dysphagia, Seiz... OMIM:619708
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... OMIM:619476
Somatomammotropinoma
Fatigue, Diabetes mellitus, Macrodactyly, Tapered finger, Depression, Macroglossia, Hypertension,... ORPHA:314769
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dysphagi... OMIM:620358
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... ORPHA:797
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Cryptorchidism, Pigmentary retinopathy, Cerebral cortical at... OMIM:214100
Perlman Syndrome
Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hy... OMIM:267000
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Primary Sjögren Syndrome
Fatigue, Myositis, Chronic active hepatitis, Raynaud phenomenon, Abnormal cerebellum morphology, ... ORPHA:289390
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid... OMIM:608978
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Inhalational Anthrax
Fatigue, Internal hemorrhage, Hypotension ORPHA:247257
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Interstitial pneumonitis, Cardiac arrest, Weight loss ORPHA:139402
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Stickler Syndrome
Recurrent respiratory infections, Cachexia, Mitral valve prolapse, Arrhythmia, Slender build ORPHA:828
Mucopolysaccharidosis Type 3
Optic atrophy, Central nervous system degeneration, Pigmentary retinopathy, Otitis media, Aspirat... ORPHA:581
Glycogen Storage Disease Xii
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Jaundice, ... OMIM:611881
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A... ORPHA:93111
Beta-Thalassemia Major
Hepatomegaly, Failure to thrive in infancy, High-output congestive heart failure, Splenomegaly, D... ORPHA:231214
Spinocerebellar Ataxia Type 7
Congestive heart failure, Failure to thrive ORPHA:94147
Plague
Fatigue, Hepatomegaly, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Unsteady... ORPHA:707
Simpson-Golabi-Behmel Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia... ORPHA:373
Hyperparathyroidism-Jaw Tumor Syndrome
Fatigue, Pancreatic adenocarcinoma, Shortened QT interval, Bone pain, Episodic abdominal pain, Dy... ORPHA:99880
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Self-mutilation, Ataxia, Precocious puberty, Seizure, Bruxism, Limb hypertonia, Cerebral palsy, A... OMIM:619950
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow... OMIM:127550
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Fatigue, Elevated hepatic iron concentration, Hepatosplenomegaly ORPHA:300298
Mucolipidosis Type Ii
Aortic regurgitation, Recurrent respiratory infections, Abnormal atrioventricular valve physiolog... ORPHA:576
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Dilated cardiomyopathy, Bradycardia, Mitten deformity, Enamel hypo... ORPHA:79404
Autosomal Dominant Hypocalcemia
Depression, Emotional lability, Writer's cramp, Cortical myoclonus ORPHA:428
Mercury Poisoning
Tremor, Seizure, Anorexia, Dystonia ORPHA:330021
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Acute Disseminated Encephalomyelitis
Viral hepatitis, Ataxia, Aggressive behavior, Abnormal brainstem MRI signal intensity, Abnormal c... ORPHA:83597
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Pigme... OMIM:614866
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Umbilical hernia, Bradycardia OMIM:218700
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Seizure, General... OMIM:300966
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot... OMIM:188400
Blepharonasofacial Malformation Syndrome
Inguinal hernia, Torsion dystonia ORPHA:1252
Papillorenal Syndrome
Seizure, Gliosis OMIM:120330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Dystonia, Involuntary movements, Abnormality of th... ORPHA:438213
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Hypothyroidism, Hypoparathyroidism... ORPHA:567
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Abnormality of the hypothalamus-pituitary axis, Ataxia ORPHA:2318
Hypocalciuric Hypercalcemia, Familial, Type Iii
Fatigue, Bone pain, Depression, Multiple lipomas, Pancreatitis, Chondrocalcinosis OMIM:600740
Mirizzi Syndrome
Elevated hepatic transaminase, Tachycardia, Abdominal colic, Anorexia, Abdominal pain, Pancreatit... ORPHA:521219
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ha... ORPHA:424
Filippi Syndrome
Hypotonia, Paraplegia, Seizure, Limb dystonia, Spasticity ORPHA:3255
Slc39A8-Cdg
Cerebellar atrophy, Severe muscular hypotonia, Failure to thrive in infancy, Elbow flexion contra... ORPHA:468699
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Fatigue, Viral hepatitis, Liver abscess, Diabetes mellitus, Cholangitis, Arthralgia, Myalgia, Cho... ORPHA:183675
Non-Functioning Pituitary Adenoma
Fatigue, Increased intraabdominal fat, Hypotension ORPHA:91349
Adrenocortical Carcinoma
Increased body weight, Weight loss, Hypertension, Palpitations, Lung adenocarcinoma ORPHA:1501
Werner Syndrome
Retinal degeneration OMIM:277700
Herpes Simplex Virus Encephalitis
Fatigue, Chills, Addictive alcohol use ORPHA:1930
Anaplastic Thyroid Carcinoma
Neoplasm of the lung, Weight loss ORPHA:142
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Weight loss OMIM:256700
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Facial hypotonia, Bilateral tonic-clonic seizure, Large for gestational age, Hypotonia, Gait atax... ORPHA:457359
Medullary Thyroid Carcinoma
Neoplasm of the lung, Weight loss ORPHA:1332
Cancer-Associated Retinopathy
Optic disc pallor, Retinal pigment epithelial atrophy, Retinal atrophy, Testicular neoplasm, Fove... ORPHA:71505
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Joubert Syndrome 14
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ataxia OMIM:614424
Joubert Syndrome 39
Molar tooth sign on MRI, Pain insensitivity, Oculomotor apraxia OMIM:619562
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia, Dysphagia ORPHA:319218
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Abnormality of masseter muscle, Abnormal hypothalamus morphology, D... ORPHA:314621
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Caroli Syndrome
Hepatomegaly, Abnormality of the kidney, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytos... ORPHA:480520
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Joubert Syndrome 37
Molar tooth sign on MRI, Oculomotor apraxia OMIM:619185
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Pulm... ORPHA:464
Marfan Syndrome
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:154700
Fanconi Anemia
Reduced bone mineral density, Leukopenia, Abnormality of the hypothalamus-pituitary axis, Hypospa... ORPHA:84
Bullous Pemphigoid
Weight loss ORPHA:703
Dehydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Abdominal pain, Portal vein thrombosis... ORPHA:3202
Legius Syndrome
Hyperactivity, Hypotonia, Xanthelasma, Seizure, Multiple lipomas, Attention deficit hyperactivity... ORPHA:137605
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Adams-Oliver Syndrome
Leukopenia, Failure to thrive, Thrombocytopenia ORPHA:974
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Acute Radiation Syndrome
Fatigue, Hypotension, Telangiectasia ORPHA:454831
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Inappropriate antidiuretic horm... ORPHA:79330
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Premature graying of h... ORPHA:90324
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt... ORPHA:1775
Monosomy 18P
Generalized dystonia, Hypothyroidism, Hypotonia ORPHA:1598
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Cryptorchidism, A... OMIM:620005
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... OMIM:612394
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia, Dysphagia ORPHA:261250
Classical Ehlers-Danlos Syndrome
Fatigue, Orthostatic hypotension, Inguinal hernia, Phalangeal dislocation, Hiatus hernia, Incisio... ORPHA:287
Intellectual Developmental Disorder, Autosomal Dominant 68
Broad hallux, Urinary incontinence, 2-3 toe syndactyly, Joint contracture of the 5th finger, Atte... OMIM:619934
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... ORPHA:2929
Hypermobile Ehlers-Danlos Syndrome
Fatigue, Inguinal hernia, Genital hernia, Aplasia/Hypoplasia of the abdominal wall musculature, C... ORPHA:285
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:608328
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Osteosarcoma
Weight loss ORPHA:668
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Hand tremor, Activating thyro... ORPHA:99819
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Weight loss ORPHA:97286
Proteus Syndrome
Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Splenomegaly, Cachexia, Ab... ORPHA:744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agenesis of corpus callosum, Congenital contracture, Hypoplasia of the brainstem, Cerebellar hypo... OMIM:236670
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Craniosynostosis, Cryptorchidism, Ac... ORPHA:235
Acute Transverse Myelitis
Back pain, Fatigue, Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Upper... ORPHA:139417
Pgm3-Cdg
Ataxia, Seizure, Myoclonus, Failure to thrive, Cortical myoclonus ORPHA:443811
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Pigmentary retinopathy OMIM:614230
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Obesity, Abnormal heart morphology, Aspirati... ORPHA:444077
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Urinary incontinence, Dysphagia, Gait ataxia, ... ORPHA:268882
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Cryptorchidism, Hypopigmented... ORPHA:636
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Arachnodactyly, Ataxia, Abnormal brainstem morphology ORPHA:2720
Leber Optic Atrophy
Postural tremor, Ataxia, Dystonia OMIM:535000
Ménétrier Disease
Gastrointestinal hemorrhage, Weight loss ORPHA:2494
Immunodeficiency 58
Fatigue, Atrophic scars, Failure to thrive, Dysphagia OMIM:618131
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lung morphology, Weight loss ORPHA:54251
Gabriele-De Vries Syndrome
Facial hypotonia, Tremor, Hypotonia, Distal arthrogryposis, Attention deficit hyperactivity disor... OMIM:617557
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... ORPHA:90348
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hypotonia, Seizure, Generalized hyp... OMIM:610505
Thrombocytopenia-Absent Radius Syndrome
Axial malrotation of the kidney, Abnormality of the kidney, Thrombocytopenia, Horseshoe kidney ORPHA:3320
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:90695
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia OMIM:620072
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmetria, Seiz... OMIM:620185
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Bronchiectasis, Abnormal pulmonary interstitial... OMIM:181000
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Thrombocytopenia, Cryptorchidism, Hypocalcemia, Hyperbilirubinem... ORPHA:163979
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... OMIM:105650
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Abnormality of the liver, Fatigue, Dysphagia ORPHA:44890
Arachnoiditis
Fatigue, Arthralgia ORPHA:137817
Friedreich Ataxia 2
Abnormal EKG, Abnormal medulla oblongata morphology, Ataxia, Congestive heart failure, Concentric... OMIM:601992
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Cerebellar cortical atrophy, Abnormal autonomic nervous system physiology, ... ORPHA:247234
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Abnormalit... ORPHA:464343
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture OMIM:225400
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Chikungunya
Fatigue, Shoulder pain, Epistaxis, Raynaud phenomenon, Enthesitis, Depression, Arthralgia, Myalgi... ORPHA:324625
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal hypotonia, Seizure, Dystonia ORPHA:457193
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Abnormality of chromosome stability, Aganglionic megacolon ORPHA:175
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Supernumerary nipple... OMIM:312870
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Weight loss ORPHA:90003
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Metaphyseal chondrodysplasia, Tip-toe gait, Gait disturb... ORPHA:83629
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Parkinsonism, Cerebral atrophy, Dystonia ORPHA:1320
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Seizure, Abnormality of extrapyramidal motor function, Self-mutilation, Dystonia ORPHA:79233
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:216400
Whim Syndrome
Abnormal small intestine morphology, Papilloma, Cutaneous melanoma, Cervix cancer, Verrucae, Paro... ORPHA:51636
Arthrogryposis Multiplex Congenita 5
Inguinal hernia, Flexion contracture, Elbow flexion contracture, Hand tremor, Hypertonia, General... OMIM:618947
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Focal motor seizure, Myoclonus, Infantile muscular hypotonia, Generalized ... ORPHA:3063
Pemphigus Vulgaris
Weight loss ORPHA:704
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Dysphagia ORPHA:79107
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypertrophic cardiomyopathy OMIM:613673
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Congestive heart fail... OMIM:182250
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Infection-Related Hemolytic Uremic Syndrome
Fatigue, Diabetes mellitus, Abdominal pain, Myocarditis, Hypertension, Abdominal cramps, Pancreat... ORPHA:544482
Reactive Arthritis
Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Weight loss, Pulmonary fibrosis ORPHA:29207
Opsoclonus-Myoclonus Syndrome
Ataxia, Rigidity, Irritability, Myoclonus, Limb myoclonus ORPHA:1183
Xeroderma Pigmentosum
Conjunctival telangiectasia, Fatigue, Telangiectasia of the skin, Ataxia, Telangiectasia, Arthral... ORPHA:910
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:95494
Alström Syndrome
Urinary incontinence, Hepatic fibrosis, Epigastric pain, Elevated gamma-glutamyltransferase level... ORPHA:64
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Flexion contracture, Annular pancreas, Failure to thrive, Thrombocyt... OMIM:147791
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Iris coloboma OMIM:309801
Sotos Syndrome
Astrocytoma, Tremor, Flexion contracture, Hypothyroidism, Seizure, Umbilical hernia, Hip contract... ORPHA:821
Tetraamelia Syndrome 1
Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Urethral atresia, Adrenal gland agenesis OMIM:273395
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... OMIM:616503
Thymoma
Neoplasm of the lung, Neoplasia of the pleura, Weight loss, Decreased circulating antibody level ORPHA:99867
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Genu valgum, Abdominal obesity, Hepatic steatosis, Cerebellar cortical atrophy OMIM:619321
Paroxysmal Nocturnal Hemoglobinuria 2
Fatigue, Arthralgia, Abdominal pain OMIM:615399
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... ORPHA:904
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Osteoporosis, Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:612199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Hypotonia, Seizure, Generalized hypotonia OMIM:253800
Osteogenesis Imperfecta
Micromelia, Abnormal tibia morphology, Flexion contracture, Bone pain, Abnormal femur morphology,... ORPHA:666
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling, Polyphagia, Gener... OMIM:620330
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Retinal degeneration OMIM:208500
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm... ORPHA:2556
Fibular Hemimelia
Craniosynostosis, Renal dysplasia, Thrombocytopenia, Abnormal bone ossification ORPHA:93323
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Ramon Syndrome
Optic disc pallor, Juvenile rheumatoid arthritis, Pigmentary retinopathy OMIM:266270
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... ORPHA:353281
Postinfectious Vasculitis
Cerebral vasculitis, Pneumonia, Increased circulating IgA level, Raynaud phenomenon, Weight loss,... ORPHA:48435
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Polydipsia, Cyanosis, Abnormal midbrain morphology, Aggressive beh... ORPHA:293987
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure OMIM:181270
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Weight loss, Enlargement of parotid gland... ORPHA:79078
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Cryptorchidism, Optic a... OMIM:133540
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology, Polyphagia ORPHA:251937
Beta-Ureidopropionase Deficiency
Hypotonia, Seizure, Status epilepticus, Dystonia, Neonatal hypotonia OMIM:613161
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Bone pain, Femoral bowing, Brain stem compression, Elevate... OMIM:602080
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Chiari type I malformation, Compulsive behaviors, Atrial septal defect, Pa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Chiari type I malformation, Compulsive behaviors, Atrial septal defect, Pa... ORPHA:353277
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormal... ORPHA:487796
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Sinus bradycardia, Difficulty walking, Dysphagia, Achalasia, Ineffective es... OMIM:619482
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Fatigue, Achilles tendon calcification, Metacarpal periosteal thickening OMIM:617994
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, O... OMIM:305000
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Weight loss,... ORPHA:29073
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Cryptorchidism, Optic atrophy, Macular degeneration, Panniculitis, Rod-... ORPHA:3132
Native American Myopathy
Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital... ORPHA:168572
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Keratoconjunctivitis sicca, Retinal degeneration OMIM:618479
Cardiac-Urogenital Syndrome
Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Enl... OMIM:618280
Hughes-Stovin Syndrome
Fatigue, Pulmonary embolism, Vasculitis, Chest pain, Pulmonary arterial hypertension ORPHA:228116
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Multiple joint contractures, Camptodactyly of finger, Ankle flexion contractu... ORPHA:468631
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Eosinophilia, Pancreatic cysts, Leukocytosis, Dilatation... OMIM:274000
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Chromosome 18P Deletion Syndrome
Small for gestational age, Hypotonia, Dystonia OMIM:146390
Prolactinoma
Fatigue, Hypotension ORPHA:2965
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Functioning Gonadotropic Adenoma
Fatigue ORPHA:91348
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Decreased circulating ACTH con... OMIM:620305
Pyomyositis
Sudden cardiac death, Weight loss ORPHA:764
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Arth... ORPHA:217085
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Fatigue, Abdominal pain, Chylopericardium, Chest pain, Shagreen patch ORPHA:538
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Neonatal alloimmune thrombocytopenia ORPHA:853
Inhalational Botulism
Fatigue ORPHA:254504
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Arth... ORPHA:217093
Jacobsen Syndrome
Inguinal hernia, Multicystic kidney dysplasia, Cryptorchidism, Bone marrow hypocellularity, Atten... ORPHA:2308
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Acute Panmyelosis With Myelofibrosis
Fatigue, Splenomegaly, Low back pain ORPHA:86843
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sagittal craniosynostosis... ORPHA:79500
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal degeneration OMIM:253280
Hydrolethalus Syndrome 1
Omphalocele, Accessory spleen, Hypospadias, Adrenal gland dysgenesis, Hydronephrosis OMIM:236680
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Joubert Syndrome 5
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Thickened superior cerebellar peduncle OMIM:610188
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Rift Valley Fever
Anemia, Thrombocytopenia, Hematuria, Anorexia ORPHA:319251
Costello Syndrome
Achilles tendon contracture, Failure to thrive, Hypoglycemia, Cerebral atrophy OMIM:218040
Holoprosencephaly 1
Hypoglycemia, Adrenal hypoplasia, Seizure, Generalized hypotonia, Diabetes insipidus OMIM:236100
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Fatigue, Hypertension, Abdominal pain, Pulmonary embolism ORPHA:567546
Hallermann-Streiff Syndrome
Congestive heart failure ORPHA:2108
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Ataxia, Tremor, Gait disturbance ORPHA:2754
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Primary Fanconi Renotubular Syndrome
Weight loss, Hypoglycemia, Glycosuria ORPHA:3337
Roberts Syndrome
Progressive flexion contractures, Craniosynostosis, Cryptorchidism, Long penis, Knee flexion cont... ORPHA:3103
Primrose Syndrome
Hip contracture, Restlessness, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Aggress... OMIM:259050
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Uterine prolapse, Atrial fibrillation, Inguinal hernia, Camptodactyly of fi... ORPHA:284984
Meckel Syndrome, Type 10
Molar tooth sign on MRI OMIM:614175
Alport Syndrome
Macular degeneration, Retinal flecks, Nephritis ORPHA:63
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Selective Igm Deficiency
Raynaud phenomenon, Fasciitis, Chronic fatigue, Cellulitis ORPHA:331235
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Congenital contracture, Thymus hyperplasia OMIM:619036
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Caroli Disease
Splenomegaly, Hepatomegaly, Portal hypertension, Weight loss ORPHA:53035
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Failure to thrive, Hypovolemia, Abnormal heart morphology ORPHA:99885
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... OMIM:100800
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Weight loss, Aspiration pneumo... ORPHA:1018
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Ataxia, Hypotonia, Seizure, Dystonia, Failure to thrive OMIM:620083
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive, Decreased circulating IgA level OMIM:212750
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T... ORPHA:536
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Bone Marrow Failure Syndrome 6
Myalgia, Chronic fatigue OMIM:618849
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Pancreatic Triacylglycerol Lipase Deficiency
Fatigue, Abdominal pain, Weight loss, Exocrine pancreatic insufficiency ORPHA:309031
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Leptospirosis
Hepatomegaly, Anorexia, Cellular urinary casts, Lymphadenopathy, Hyperproteinemia, Acute kidney i... ORPHA:509
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Ataxia, Abnormal dental enamel morphology, Tremor, Abnormality of ... ORPHA:2750
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Angin... ORPHA:740
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem, Spastic tetraplegia OMIM:619306
Full Nf2-Related Schwannomatosis
Facial palsy, Abnormal cerebellum morphology, Unsteady gait, Brain stem compression, Wrist drop, ... ORPHA:637
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Short Syndrome
Weight loss ORPHA:3163
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Uterine prolapse, Atrial fibrillation, Bicuspid aortic valve, Inguinal h... OMIM:613795
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Fair hair, Retinal dystrophy, Cholangitis, Macular degeneration, Rod-cone dystrophy, Attenuation ... OMIM:266920
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Cere... OMIM:219800
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Chronic fatigue, Arthralgia, Arachnodactyly OMIM:619656
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Rat-Bite Fever
Myocarditis, Pericarditis, Endocarditis, Weight loss ORPHA:31205
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Fatigue, Anorexia, Oral-pharyngeal dysphagia, Vulvodynia, Depressi... ORPHA:95455
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Hypotonia, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:284339
Arboleda-Tham Syndrome
Axial hypotonia, Hypotonia, Dysphagia, Seizure, Lower limb hypertonia, Generalized hypotonia, Dys... OMIM:616268
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Meckel Syndrome, Type 4
Molar tooth sign on MRI OMIM:611134
Familial Hypocalciuric Hypercalcemia
Fatigue, Episodic abdominal pain, Lipoma, Pancreatitis, Chondrocalcinosis ORPHA:405
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Malt Lymphoma
Fatigue, Abdominal pain, Weight loss ORPHA:52417
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Weight loss OMIM:301074
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Oculomotor apraxia ORPHA:397715
Parkes Weber Syndrome
Bounding pulse, High-output congestive heart failure, Subarachnoid hemorrhage ORPHA:90307
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss, Neoplasm of the lung ORPHA:97261
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss ORPHA:97278
Carney Complex
Cardiac myxoma, Congestive heart failure, Increased body weight, Hypertension, Abdominal obesity ORPHA:1359
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Goodpasture Syndrome
Fatigue, Cyanosis, Weight loss, Chest pain, Chills, Pulmonary hemorrhage OMIM:233450
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Dystonia, Focal-onset seizure, Babinski sign, Hemiparesis, Seizure, Tetrapare... OMIM:175780
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension, Recurrent pancreatitis OMIM:606721
Lymphatic Filariasis
Fatigue, Pain ORPHA:2035
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Intestinal bleeding, Chronic fatigue, Abdominal pain ORPHA:424016
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Hepatosplenomegaly ORPHA:85408
Pancreatoblastoma
Weight loss ORPHA:677
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Pmm2-Cdg
Elevated hepatic transaminase, Axial hypotonia, Abnormality of coordination, Ataxia, Multiple joi... ORPHA:79318
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Weight loss ORPHA:913
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:616546
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Hypotonia, Seizure, Attention deficit hyperactivity disorder, Dysph... OMIM:619522
Tropical Pancreatitis
Weight loss ORPHA:103918
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI OMIM:277170
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI OMIM:616300
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Small pituitary gland OMIM:619479
Fraser Syndrome 1
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Weight loss, Melena, Hypertension ORPHA:652
Chronic Graft Versus Host Disease
Pneumothorax, Bronchiectasis, Weight loss, Bronchiolitis obliterans, Pleural effusion ORPHA:99921
Meckel Syndrome, Type 1
Molar tooth sign on MRI, Adrenal hypoplasia OMIM:249000
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI ORPHA:434179
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI OMIM:615948

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ppargc1a

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 Ppargc1a.

No publications found that use IMPC mice or data for Ppargc1a.

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
Ppargc1atm239740(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ppargc1atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ppargc1atm42168(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ppargc1aem1(IMPC)Bay Exon Deletion Mice
Ppargc1atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppargc1atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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