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Gene: Cacnb4 MGI:103301

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Gene Summary

Name:
calcium channel, voltage-dependent, beta 4 subunit
Synonyms:
3110038O15Rik,  Cchb4

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Cacnb4tm1a(EUCOMM)Hmgu HET Early adult 7.57×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cacnb4 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 Cacnb4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... OMIM:607682
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... OMIM:613855
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307

The table below shows human diseases predicted to be associated to Cacnb4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
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
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, EEG abnormality, Myoclonus, Difficulty walking, Lethargy OMIM:617829
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... OMIM:613608
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
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 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:601068
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
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
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, EEG abnormality, Tr... OMIM:608636
Spermatogenic Failure 17
Male infertility OMIM:617214
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Seizure, Spasticity, Ataxia, EEG abnormality OMIM:619228
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chorea, Poor co... OMIM:619150
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Glut1 Deficiency Syndrome 1
Ataxia, Choreoathetosis, Seizure, EEG abnormality, Myoclonus, Lethargy, Paroxysmal lethargy OMIM:606777
Continuous Spikes And Waves During Sleep
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... ORPHA:725
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Decreased nerve conduction velocity, Ataxia OMIM:183050
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Chronic Inflammatory Demyelinating Polyneuropathy
Decreased nerve conduction velocity, Unsteady gait, Motor conduction block, Falls, Difficulty wal... ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Difficulty walking OMIM:620111
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Difficult... OMIM:608323
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Apathy, Ataxia ORPHA:71518
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, EEG abnormality, Stat... OMIM:617171
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait OMIM:302801
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor... ORPHA:206594
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Difficulty walking, Decreased amplitude of sensory act... OMIM:618912
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Gait disturbance OMIM:611228
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Seizure, Gait disturbance, Lethargy ORPHA:79283
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Failure to thrive, Panhypo... OMIM:269840
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude, Difficulty walking OMIM:619112
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Pituitary Carcinoma
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... ORPHA:300385
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma OMIM:613641
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Seizure, Lethargy, EEG abnormality OMIM:617900
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux... OMIM:608971
Developmental And Epileptic Encephalopathy 40
Hypsarrhythmia, Choreoathetosis, Seizure, Myoclonus, Lethargy OMIM:617065
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
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
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
Squamous Cell Carcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Lymphadenopathy ORPHA:99977
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Anorexia, Lymphadenopathy ORPHA:52416
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Epilepsy, Nocturnal Frontal Lobe, 2
Depression, Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo... OMIM:616187
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Spastic diplegia, Hypsarrhythmia, Seizure, Status epilepticus, ... OMIM:617830
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m... OMIM:611637
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300425
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, Diarrhea, Increased circulating IgE lev... ORPHA:277
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... ORPHA:280234
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, EEG abnormality, Status epilepticus, Abnorma... OMIM:239500
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Steppage gait, Difficulty walking ORPHA:352675
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... OMIM:616040
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Ataxia, Gait disturbance ORPHA:101078
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction velocity, Limb myoclonus OMIM:619862
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Gait disturbance ORPHA:101075
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Dysphagia, Abn... ORPHA:247604
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia, Recurr... OMIM:615615
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... OMIM:605021
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency 83, Susceptibility To Viral Infections
Seizure, Lethargy, EEG abnormality OMIM:613002
Autism
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:607373
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, Optic atr... ORPHA:457205
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Febrile Infection-Related Epilepsy Syndrome
Focal-onset seizure, Lethargy, EEG abnormality ORPHA:163703
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
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
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ... OMIM:616230
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Ataxia, Diabetes insipidus... ORPHA:300373
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
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 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... ORPHA:91351
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Seizure, Myoclonus, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Seizure, EEG abnormality, Myoclonus, Loss of ambulation OMIM:600143
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... OMIM:254800
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Inability to walk, Steppage gait, Gait disturbance, Abnormal... ORPHA:99939
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... OMIM:607682
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Difficulty walking OMIM:615575
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity OMIM:615493
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... OMIM:617904
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Ataxia OMIM:618683
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... OMIM:300400
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... ORPHA:98818
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... OMIM:619970
Homocystinuria Without Methylmalonic Aciduria
Seizure, Ataxia, Lethargy ORPHA:622
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Steppage gait OMIM:615376
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Falls, Myoclonus, Atypical ... ORPHA:2382
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Autosomal Recessive Spastic Paraplegia Type 21
Difficulty walking, Gait disturbance, Abnormality of peripheral nerve conduction ORPHA:101001
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... OMIM:615285
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetitive mannerisms, Self-mu... OMIM:614063
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Depression, Myoclonus, Difficulty walking OMIM:619191
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Oculogyric crisis, Inability to walk, Chorea, Bruxism, Myoclonic seizure, Seizur... OMIM:614254
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent ... OMIM:617862
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... OMIM:162350
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Enlarged mesenteric lymph node, Lymphadenopathy, ... OMIM:209950
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Steppage gait OMIM:610100
Distal Hereditary Motor Neuropathy Type 5
Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Myocloni... OMIM:617105
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity ORPHA:356996
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Bruxism, Myocl... OMIM:618497
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Unsteady gait, Myocloni... OMIM:616409
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Generalized non-m... OMIM:617665
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Seizure, EEG abnormality, Self-injurious behavior, Dyst... OMIM:617820
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Seizure, Loss of ambulation, Gait ataxia OMIM:249900
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Inability to ... OMIM:618917
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyperkinetic movements, ... OMIM:618285
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... OMIM:613855
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance ORPHA:99944
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Neutropenia in presence of anti-n... OMIM:607594
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Focal-onset seizure, Chorea, EEG abnormality, Self-injurious behavior, Convuls... OMIM:618760
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Inability to walk, Hypsarrhythmia, Seizure, Stereotypical hand wringing OMIM:619561
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Methylmalonic Acidemia With Homocystinuria
Seizure, Gait disturbance, Lethargy ORPHA:26
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Diarrhea, Lymphadenop... OMIM:618495
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1368
Adenocarcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Obesity, Lymphadenopathy, Gastroesophageal ... ORPHA:99976
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Gait dist... ORPHA:101081
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... OMIM:616981
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Seizure, Abnormal motor nerve conduction velocity, Dysmetria OMIM:618404
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren... OMIM:615400
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia OMIM:613722
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior OMIM:617709
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized non-motor... OMIM:271980
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Dysmetria, Depression, Bradykinesia, Seizure, Gait ataxia, L... OMIM:603516
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Steppage gait OMIM:606595
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
Gaba-Transaminase Deficiency
Seizure, EEG with burst suppression, Lethargy OMIM:613163
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, L... OMIM:619164
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Impaired Ig class switch recombination, Lympha... OMIM:605258
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Steppage gait OMIM:302802
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... OMIM:616139
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Unsteady gait, Waddling gait OMIM:609311
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Choreoathetosis, Seizure, EEG abnormality, Status epilepticus, Myoclonus, Lethargy ORPHA:71277
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Test... ORPHA:83469
Wolman Disease
Nausea and vomiting, Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Abdominal dist... ORPHA:75233
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking OMIM:613710
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Lymphaden... OMIM:240500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Babinski sign, Seizure, EEG abnormality, Inappropriate behavior, Gait distur... OMIM:221770
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... OMIM:205100
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Steppage gait, Facial palsy OMIM:118210
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Seizure, Athe... ORPHA:382
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Paresthesia, Myoclonus OMIM:102300
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia OMIM:125370
Spinocerebellar Ataxia, Autosomal Recessive 12
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Optic atrophy, Limb... OMIM:614322
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy... OMIM:619470
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Abnormal nervous system electrophysiology, Ataxia, Myoclonus OMIM:204500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Seizure, Waddling gait OMIM:618138
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity OMIM:612577
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Hepatomegaly, Failure to thrive, Decreased proportion of naive T... ORPHA:276
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Severe Canavan Disease
Bilateral tonic-clonic seizure, Inability to walk, Optic atrophy, Seizure, Lethargy ORPHA:314911
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Generalized no... ORPHA:98811
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Dysphagia, Hypsarrhy... ORPHA:13
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Multifocal epile... OMIM:617493
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... OMIM:617391
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Seizure, Ti... ORPHA:216866
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Difficulty walking OMIM:600361
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwhee... OMIM:619725
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Ataxia, Seizure, Gait disturbance, Decreased sensory n... OMIM:603472
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclonus, Limb my... ORPHA:36899
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... ORPHA:263516
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... ORPHA:169154
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1188
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia ORPHA:99014
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Seizure, Steppage gait, Ataxia OMIM:607250
Mitochondrial Complex I Deficiency, Nuclear Type 3
Seizure, Ataxia, Lethargy OMIM:618224
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... OMIM:618982
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, At... OMIM:619639
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Reticular Dysgenesis
Abnormality of neutrophils, Diarrhea, Decreased circulating antibody level, Weight loss, Leukopen... ORPHA:33355
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Decreased nerve conduction velocity, Steppage gait, Gait disturbance, Gait imba... ORPHA:435387
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Abnormal sensory nerve conduction velocity, Gait disturbance ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Abnormal nervous system electrophysiology, D... OMIM:256731
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Hyperhidrosis, Weight loss, Lymphadenopathy ORPHA:86893
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus ORPHA:86814
Infantile Spasms Syndrome
Myoclonus, Infantile spasms, Hypsarrhythmia ORPHA:3451
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Anorexia, Diarrhea, Hepatitis, Hepatosplenomegaly, Protracted diarrhea... ORPHA:169160
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Inability to walk, Gait disturbance, Difficulty walking ORPHA:101077
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystoni... OMIM:615924
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Inability to walk OMIM:618184
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology OMIM:605253
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G... OMIM:266100
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg... ORPHA:86909
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity... OMIM:618090
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis, Failure t... OMIM:618963
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Loss of ambulation, Gait disturbance OMIM:615284
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:617389
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Tremor, Rigid... OMIM:612736
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, EEG with burst su... ORPHA:99802
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign OMIM:162500
Immunodeficiency 8 With Lymphoproliferation
Gastroesophageal reflux, Complete or near-complete absence of specific antibody response to uncon... OMIM:615401
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... OMIM:613101
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Seizure, Ankle ... OMIM:617435
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... OMIM:616341
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia... OMIM:617836
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Unsteady gait, Ataxia, Dysmetria OMIM:159550
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Abdominal pain, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... ORPHA:168491
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decrease... OMIM:615592
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Burkitt Lymphoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Generalized m... OMIM:238970
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Optic atr... OMIM:609260
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, EEG abn... ORPHA:3095
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... OMIM:619157
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Impulsivity... OMIM:619028
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Bruxism... ORPHA:561854
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, A... OMIM:616100
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Generalized non-motor (... OMIM:617810
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal nerve conduction velocity, Dysmetria, Bradykinesia, Progressive cerebella... ORPHA:98755
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Portal hypertension... ORPHA:824
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure OMIM:611092
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobuli... ORPHA:98813
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Gait disturbance ORPHA:2928
Spinocerebellar Ataxia 13
Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, Limb ataxia, Gait at... OMIM:605259
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure... OMIM:619913
Sandhoff Disease, Adult Form
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Episo... ORPHA:140927
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, EEG abnormality, Self-injuriou... OMIM:618218
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Limb ataxia, Difficulty walking, Jerky head movements, Spastic gait ORPHA:251282
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Steppage gait OMIM:605588
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Optic atrophy, Lethargy OMIM:274270
Spinocerebellar Ataxia 17
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetri... OMIM:607136
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, In... OMIM:617166
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, O... ORPHA:208447
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inability to walk... OMIM:611890
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials OMIM:608673
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Clonic seizure, Spastic tetraplegia, Seizure, Self-injurious behavior, Hypertonia, Abnormal repet... OMIM:615282
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... OMIM:301020
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Gait ataxia, Abnormality of peripheral nerve conduction, Dec... ORPHA:90103
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Seizure, EEG abnormality, Self-injurious behavior, Brux... OMIM:618718
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Unsteady gait, Limb ataxia, Gait ataxia, Difficulty wa... ORPHA:3115
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Ataxia, EEG with burst suppression, Spastic tetraplegia, Seizure, Myoclonus, Att... OMIM:619971
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Difficulty walking, Spasticity, Ab... OMIM:617393
Cln5 Disease
Generalized-onset seizure, Tremor, Dysmetria, EEG with focal spikes, Hyperactivity, Abnormal cent... ORPHA:228360
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharges, Choreoathetosi... OMIM:609056
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:600882
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Broad-based gait, Gait ataxia, Steppage gait, Difficul... OMIM:614895
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasc... OMIM:611721
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Aggressive behavior, Focal tonic seizure, Limb tremor, Seizure, Self-injurious behavior, Hyperton... OMIM:300699
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking OMIM:605285
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Neutropenia, Lymphadenopathy, B lymphocy... OMIM:150550
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss ORPHA:79238
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Progressive Myoclonic Epilepsy With Dystonia
EEG with irregular generalized spike and wave complexes, Abnormal pyramidal sign, Optic atrophy, ... ORPHA:352596
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Facial palsy, Tremor, Dysphagia, Degeneration of anterior horn cells, ... OMIM:159950
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity OMIM:608895
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Adrenoco... ORPHA:100083
Infantile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dys... ORPHA:79263
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity OMIM:613287
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Abdominal distention, Gastrointestinal d... OMIM:613662
Glycine Encephalopathy 1
Seizure, Myoclonus, Lethargy OMIM:605899
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor... ORPHA:99953
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Optic atrophy, Seizure, Gait disturbance, Lethargy OMIM:603896
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytope... ORPHA:507
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade... ORPHA:397596
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Dysmetria, Seizure, Dysdiadochokinesis, Myoclonus OMIM:618356
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Abdominal pain, Leuk... OMIM:617099
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Pseudomyxoma Peritonei
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Weig... ORPHA:26790
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Abnormality of the pancreas, Diarrhea... ORPHA:54251
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Gait ... OMIM:619092
Cdkl5-Deficiency Disorder
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Multifocal epileptiform discharge... ORPHA:505652
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Decreased prop... OMIM:615767
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, T... OMIM:618108
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Choreoathetosis OMIM:614932
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive gait ata... ORPHA:101112
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Steppage gait, Tip-toe gait OMIM:614436
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... OMIM:617350
Coproporphyria, Hereditary
Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Jaundice, Constipation, Vomiting OMIM:121300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... OMIM:600795
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Inability to walk, Unsteady gait, Motor conduction block ORPHA:99948
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Abnormal motor nerve conduction velocity ORPHA:100998
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Pr... ORPHA:248111
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... OMIM:603909
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300495
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Seizure OMIM:620068
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Secretory Component Deficiency
Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Meningioma
Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro... ORPHA:2495
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Dysp... OMIM:607346
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infectio... OMIM:601457
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Self-injurious behavior, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dysphagia, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Dysphagia, Spast... ORPHA:313772
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Truncal ataxia, Lethargy OMIM:250620
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-indu... ORPHA:3077
Boutonneuse Fever
Abdominal pain, Cervical lymphadenopathy, Diarrhea, Lymphadenopathy, Leukopenia, Increased circul... ORPHA:83313
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... OMIM:300423
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Chronic lympha... OMIM:616005
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Inability to walk, Babin... OMIM:128100
Lethal Infantile Mitochondrial Myopathy
Seizure, Lethargy ORPHA:254857
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential OMIM:607706
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Inability to walk, Unsteady gait, Decreased amplitude ... ORPHA:99950
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction ORPHA:65684
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM... OMIM:618394
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, ... OMIM:614487
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia OMIM:619065
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Lethargy OMIM:618225
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... ORPHA:485350
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Steppage gait, Gait disturbance OMIM:118300
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Inability to walk... OMIM:218000
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... OMIM:618157
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Abdominal pain, Anorexia, Splenomegaly, Diarrhea, Anemia ORPHA:2930
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymp... OMIM:612692
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Seizure OMIM:256600
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:42642
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Lethargy... OMIM:233910
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Lymphadenop... OMIM:615387
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop... OMIM:618852
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Thrombocytope... ORPHA:98850
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia OMIM:180800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... OMIM:613954
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Cednik Syndrome
Seizure, Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Inability to walk, Optic atrophy, Seizure, F... ORPHA:330050
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... OMIM:616688
Short Chain Acyl-Coa Dehydrogenase Deficiency
Seizure, Optic atrophy, Lethargy ORPHA:26792
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Dysphagia, Gait ataxia, Cho... ORPHA:225154
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Cachexia, Poor appetite, Abdominal pain, Abdominal distention, Gast... ORPHA:298
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Manganese Poisoning
Decreased female libido, Akinesia, Aggressive behavior, Hypersexuality, Depression, Irritability,... ORPHA:306682
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonomic nervous system ph... ORPHA:139578
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Gait disturbance OMIM:618400
Boucher-Neuhauser Syndrome
Ataxia, Gait ataxia, Abnormal upper motor neuron morphology, Spasticity, Intention tremor OMIM:215470
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Spinocerebellar Ataxia 48
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... OMIM:618093
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Monocytosis, ... OMIM:619281
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Seizure, Ataxia ORPHA:1933
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Spastic paraplegia, Distal sensory impairment, Gait disturbance, Paresth... OMIM:263570
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Failure to thrive in infancy, Chronic diarrhea, T lymphocytopeni... OMIM:619510
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Fasciculati... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Fasciculati... OMIM:616437
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Optic atrophy, Seizure, EEG abnormality, Myoclonus, Spasticity OMIM:256730
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Seizure, Self-injuri... OMIM:617695
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Simple febrile seizure, Clonus, Focal-onset s... ORPHA:1949
Central Neurocytoma
Lethargy, Ataxia, Depression ORPHA:73256
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Secretory diarrhea, Iron deficiency anemia, Colitis, Vomiting, Neutropenia, Hypothyroidism, Hyper... ORPHA:37042
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T... OMIM:607225
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, P... ORPHA:254881
Developmental And Epileptic Encephalopathy 1
Dystonia, Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, EEG with bu... OMIM:308350
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Diarrhea, Jaundice, Lymphadenopathy, Anemia, Thromboc... ORPHA:858
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Reduced natural killer cell activity, Feeding difficulties in in... OMIM:616050
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs... OMIM:617600
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
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
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Optic atrophy, Choreoathetosis, ... OMIM:608804
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Unsteady gait, Decreased circulating total IgM, Seizure, Decreased circulating IgG level,... OMIM:300861
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity ORPHA:101082
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Decreased nerve conduction velocity, Loss of ambulation, Unsteady gait, Impaired tandem gait ORPHA:101097
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... OMIM:618986
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hypsarrhythmia, Myoclonic seizure, S... OMIM:226750
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Steppage gait, Difficulty walking OMIM:604563
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... OMIM:618048
Classic Hodgkin Lymphoma
Hepatomegaly, Anorexia, Poor appetite, Splenomegaly, Hyperhidrosis, Weight loss, Lymphadenopathy,... ORPHA:391
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Dysphagia, Choreoathetosis, Seizure, Gait disturbance, M... ORPHA:391417
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Developmental And Epileptic Encephalopathy 72
Infantile spasms, Inability to walk, Hypsarrhythmia, Hyperkinetic movements, Dysphagia OMIM:618374
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, EE... OMIM:617976
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Clumsiness, Seizure, Gait distur... ORPHA:399
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Krabbe Disease
Decreased nerve conduction velocity, Seizure, Optic atrophy, EEG abnormality OMIM:245200
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomoto... OMIM:612716
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadotropic hypogonadism, Short stature, Central adrenal insufficiency, Small pituitary glan... OMIM:612079
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... OMIM:183090
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating antibody level, Neutropeni... OMIM:616740
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, L... OMIM:603554
Dihydrolipoamide Dehydrogenase Deficiency
Seizure, Ataxia, Lethargy OMIM:246900
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Bilateral tonic-clonic seizure, Gait imbalance OMIM:618120
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Babinski sign, Spinal cord les... ORPHA:401866
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... OMIM:173100
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Congenital Myopathy 10A, Severe Variant
Seizure, Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... ORPHA:98768
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopath... OMIM:609981
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Involuntary move... ORPHA:98784
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Failure to thrive, Abnormal natu... OMIM:615617
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Chronic diarrhea, Ile... OMIM:304790
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Unsteady gait, Gait disturbance, Abnormal auditory evoked po... OMIM:601455
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Spinal cord posterior columns myelin loss,... ORPHA:98756
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Limb ataxia, Dysmetria, Hand tremor, Dysphagia, Tongue fasciculations, Dif... ORPHA:276198
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality OMIM:612621
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Seizure, EEG abnormality, Gait disturbance, Myoclonus ORPHA:812
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D... OMIM:615122
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Hyperhidrosis, Lymphadenopathy, Weight loss, Abnormal live... ORPHA:1332
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... ORPHA:98764
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Spasticity, Dysphagia, Abnormal posturing OMIM:304700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Loss of ambulation, Decreased compound muscle action potential amplitude, Facial palsy, Waddling ... OMIM:603511
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Ataxia, Optic atrophy, Dysmetria OMIM:612674
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic seizure, Aggressive b... OMIM:619580
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Impaired T cell function, Pure red cell aplasia, ... OMIM:613179
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Babinski sign, Spastic dysarthria, Seizure, Difficulty walking, Dystonia, Spastici... ORPHA:280763
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi... ORPHA:306511
Spinocerebellar Ataxia, Autosomal Recessive 10
Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal ataxia, Intention tremor OMIM:613728
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... OMIM:618160
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Dysmetria, Impaired tandem gait, Gait ataxia, Limb ataxia, ... OMIM:117360
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Seizure, EEG abnormality, Gait disturbance, Myoclonus, Disinhibition, Apraxia OMIM:618193
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Pancytopenia, Autoimmune hemolytic anemia, Chr... ORPHA:572
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Inflammation of the large intestine, Colitis, De... OMIM:614700
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Inability to walk by childhood/adolescence, Decreased ... OMIM:214400
Cog7-Cdg
Hepatomegaly, Small for gestational age, Diarrhea, Jaundice, Feeding difficulties, Hepatosplenome... ORPHA:79333
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... ORPHA:163681
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa... ORPHA:158061
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Inability to walk, Abnormal repetitive mannerisms, Generalized non-motor (absen... ORPHA:411986
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Facial-lingual fasciculations, Babinski sign, Vocal cord ... ORPHA:276244
Sandhoff Disease, Juvenile Form
Incoordination, Ataxia, Abnormal pyramidal sign, Seizure, Gait disturbance, Fasciculations, Abnor... ORPHA:309162
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... OMIM:619911
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesi... ORPHA:53351
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Steppage gait OMIM:118220
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphad... ORPHA:3226
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Abnormal peripheral action potential amplitude, Abnormality of the seventh cra... ORPHA:90117
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Cachexia, Anorexia, Abdominal pain, Splenomegaly, Medi... ORPHA:3452
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Polyendocrine-Polyneuropathy Syndrome
Short stature, Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal gr... OMIM:616113
Glycine Encephalopathy
EEG with burst suppression, Seizure, EEG abnormality, Generalized myoclonic seizure, Lethargy ORPHA:407
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Spastic gait OMIM:270685
N-Acetylglutamate Synthase Deficiency
Seizure, Lethargy OMIM:237310
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Vomiting, Hepatic fibrosis, Hepatic st... OMIM:278000
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain OMIM:223100
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Dorsal col... OMIM:164400
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... OMIM:617282
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased... OMIM:620045
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor OMIM:620158
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal si... OMIM:607483
Huntington Disease-Like 3
Abnormal head movements, Progressive gait ataxia, Broad-based gait ORPHA:157946
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, S... ORPHA:529665
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hoffmann sign, Babinski sign... OMIM:601162
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Vomiting, Hepat... ORPHA:275761
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Abdominal ... ORPHA:98848
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Sodium-Dependent Multivitamin Transporter Deficiency
Seizure, Decreased circulating IgG level OMIM:618973
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, EEG with focal sharp waves, Optic at... OMIM:617302
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Epileptic spasm, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhy... ORPHA:485421
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, EEG abnormality, Seizure, Focal impaired awareness seizur... OMIM:613970
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Feeding difficulties in infancy, Diarrhea, Leukopenia, Ne... OMIM:229050
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Lethargy, Papilledema, Depression ORPHA:238624
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Seizure OMIM:619851
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:85446
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... ORPHA:77297
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Myoclonus, Intractable, Neonatal
Optic disc pallor, Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus f... OMIM:617235
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Optic atrophy, Choreoathetosis, Seizure, Lethargy ORPHA:27
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Seizure, Gait disturbance, Lethargy OMIM:236270
Rhabdoid Tumor
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Anemia, Lymphadenopathy, Neoplas... ORPHA:69077
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Motor neuron atrophy, Bradykinesia, Inappropriate behavior, Falls, Shuffling gait, ... ORPHA:412066
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac... ORPHA:289266
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Generalized-onset seizure, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cere... ORPHA:284289
Japanese Encephalitis
Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hyper... ORPHA:79139
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal ... ORPHA:453533
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Seizure, Gait disturbance OMIM:250100
Cyclic Vomiting Syndrome
Seizure, Ataxia, Lethargy OMIM:500007
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, Dy... OMIM:270550
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Abdominal pain, Splenomegaly, Lymphadenitis, Leuko... OMIM:260920
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa... ORPHA:540
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Pyruvate Dehydrogenase E1-Alpha Deficiency
Choreoathetosis, Seizure, Myoclonus, Episodic ataxia, Lethargy OMIM:312170
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity OMIM:607734
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Optic atrophy, Optic disc pallor, Ataxia OMIM:618228
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen, Diarrhea, Weight loss, Abnormality of the... ORPHA:33276
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Familial Cold Autoinflammatory Syndrome 2
Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenopathy, Recurrent aphthous stomatitis OMIM:611762
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... OMIM:612164
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Seizure, Lethargy OMIM:610006
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia, Difficulty walking, Depression ORPHA:329478
Posttransplant Acute Limbic Encephalitis
Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Seizure, My... ORPHA:163921
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy... ORPHA:3392
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Bilateral tonic-clonic seizure, Parkinsonism, Poor... ORPHA:79264
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive... ORPHA:544254
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Babinski sign, Dysphagia, Seizure, Gait disturbance, Myoclonus, A... OMIM:607822
Mitochondrial Complex I Deficiency, Nuclear Type 5
Seizure, Ataxia, Optic atrophy, Lethargy OMIM:618226
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... OMIM:620210
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of the tonsils, Abnormality... ORPHA:229717
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Hypsarrhythmia, Myoclonic sei... OMIM:619877
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyr... ORPHA:39041
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Diarrhea, Thymoma, ... ORPHA:169105
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Steppage gait OMIM:118200
Diencephalic Syndrome
Decreased body weight, Cachexia, Hyperhidrosis ORPHA:1672
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Head titubation, Inability to walk, Tremor, Rigidity, Gait ataxia, Choreo... OMIM:618877
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Seizure, Loss of ambulation OMIM:610532
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Seiz... ORPHA:464282
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia... ORPHA:83471
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Dysphagia, Athetosis, Dystonia OMIM:300857
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Intestinal inflammation, Chronic diarrhea, Hepatosplenomegaly, Cholestatic liver di... OMIM:619858
Microsporidiosis
Brain abscess, Cholangitis, Cachexia, Anorexia, Nausea, Abnormality of the spleen, Lymphadenitis,... ORPHA:2552
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Ataxia, Seizure, Gait disturbance, Inappropriate laughter, Febrile... OMIM:614104
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity OMIM:607831
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Chronic diarrhea, Agammaglobulinemia, Lymph node... OMIM:300755
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Broad-based gait, Decreased sensory nerve conduction v... OMIM:145900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Inability to walk, Broad-based gait OMIM:615490
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Inability to walk, Optic atrophy, Seizure, Athetosis, Gait disturbance, Myoclonus, Loss... OMIM:618241
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repe... OMIM:612069
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Dysmetria, Tip-toe gait, Gait disturbance, Difficulty ... OMIM:302800
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... ORPHA:268943
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Lafora Disease
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... ORPHA:501
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Decreased proportion of class-switched memory B cells, Decreased circulating to... OMIM:617765
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Seizure, Optic atrophy, Lethargy ORPHA:79312
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Central Diabetes Insipidus
Seizure, Lethargy, Depression ORPHA:178029
Susac Syndrome
Lethargy, Apathy, Gait ataxia ORPHA:838
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopeni... OMIM:614069
Crigler-Najjar Syndrome
Seizure, Lethargy ORPHA:205
Thyrocerebrorenal Syndrome
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo... OMIM:619738
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Dysphagia, Loss of ambulation OMIM:613435
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Seizure, Progressive gait ataxia... ORPHA:309256
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Jerky head movements OMIM:245348
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, ... OMIM:614298
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abno... ORPHA:280219
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Seizure, Myoclonus, Abnorma... ORPHA:97229
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,... OMIM:301082
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Ho... OMIM:615491
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Choreoathetosis ORPHA:319514
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Gait disturbance, Decreased testicular size ORPHA:1875
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron mo... ORPHA:52430
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Clonus, P... ORPHA:300605
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Seizure, Progressive spasticity, Dysphagia, Abnormal repetitive m... DECIPHER:45
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidis... ORPHA:514
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy ORPHA:50251
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Abnormal autonomic nervous system physiol... ORPHA:363722
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infancy, Splenom... OMIM:257200
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Hepatit... ORPHA:319218
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Increased circ... ORPHA:343
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Seizure,... ORPHA:565624
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G... ORPHA:457240
Glycogen Storage Disease Ixb
Splenomegaly, Diarrhea, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude, Steppage gait, Difficulty walking OMIM:618279
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Dihydropyrimidinase Deficiency
Seizure, Lethargy OMIM:222748
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Abdominal pain, Chronic diarrhea, Functiona... ORPHA:90362
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Aredyld Syndrome
Splenomegaly, Cachexia, Hepatomegaly ORPHA:1133
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Seizure, EEG abnormality, Gait disturbance, Abnorm... ORPHA:778
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac... ORPHA:100082
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Compulsive behaviors... ORPHA:398069
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Diarrhea, Vomiting OMIM:605911
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy, Myoclonic seizure OMIM:619690
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Seizure, Myoclonus, Dystonia, Spasticity OMIM:620094
Castleman Disease
Nausea and vomiting, Increased circulating interleukin 6 concentration, Generalized lymphadenopat... ORPHA:160
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Vomiting, Anemia OMIM:175500
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Inability to walk, Steppage gait, Decreased amplitude ... ORPHA:98856
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:618856
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Abdominal pa... ORPHA:98849
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Machado-Joseph Disease
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... OMIM:109150
Peroxisome Biogenesis Disorder 4B
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Seizure, Gait disturbance OMIM:614863
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Lymphadenopathy ORPHA:2221
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Seizure ORPHA:397744
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Steatorrhea, Hepatic fa... OMIM:235555
Immunodeficiency 22
Failure to thrive, Abscess, Diarrhea, Protracted diarrhea, Anemia, Decreased circulating total Ig... OMIM:615758
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Unsteady g... OMIM:618733
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit... ORPHA:282166
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... ORPHA:3162
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Abnormality of peripheral nerve conduction, Dysmetria ORPHA:48431
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of class-switched... OMIM:619652
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Seizure, Decreased sensory nerve conduction velocity OMIM:619026
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Fluctuating splen... OMIM:610377
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Dysphagia, Gait disturbanc... ORPHA:508093
Christianson Syndrome
Generalized-onset seizure, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dyston... ORPHA:85278
Isovaleric Acidemia
Seizure, Bone marrow hypocellularity, Lethargy OMIM:243500
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis,... OMIM:601847
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Seizure, Abnormal temper tantrums, Abnormal repetitive mann... ORPHA:530983
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations OMIM:608030
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... OMIM:613670
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Ataxia-Telangiectasia-Like Disorder
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor aprax... ORPHA:251347
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Ulcerative colitis, Decreased ci... OMIM:617638
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Hemiparesis, Seizure, Self-injurious beh... OMIM:618004
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac... ORPHA:100080
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Atrophy of the spinal cord, Palatal tremor, Truncal ataxia OMIM:113610
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Ataxia, Myoclonus OMIM:274240
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Optic atrophy, Seizure, Myoclonus, Lethargy OMIM:614299
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... OMIM:105400
Pyruvate Dehydrogenase Deficiency
Ataxia, Choreoathetosis, Seizure, Gait disturbance, Lethargy ORPHA:765
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Decrea... ORPHA:90045
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... OMIM:620292
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Paraparesis, Oro... OMIM:617854
Classic Galactosemia
Ataxia, Depression, Seizure, Gait disturbance, Gait imbalance, Lethargy ORPHA:79239
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Seizure, Optic atrophy OMIM:615419
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:608049
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Seizure, Lethargy ORPHA:276608
Pontocerebellar Hypoplasia, Type 6
Seizure, Generalized-onset seizure, Lethargy OMIM:611523
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cirrhosis,... OMIM:613489
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Optic atrophy, Gait ataxia, Difficulty walking, Dyst... OMIM:617807
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis OMIM:614373
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Congenital Myopathy 9A
Cryptorchidism, Short stature, Akinesia OMIM:618822
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha... ORPHA:79477
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Sei... ORPHA:363400
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Asplenia, Cerv... OMIM:614034
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Weight loss, Abnormal lymph node morpho... ORPHA:677
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive manneris... ORPHA:228402
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Lethargy, Optic atrophy ORPHA:289916
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Diarrh... OMIM:619849
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Moynahan Syndrome
Cachexia ORPHA:2574
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Seizure, Increased circulating IgE level, EEG abnormality ORPHA:1858
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, T... OMIM:300912
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Optic atrophy, Generalized non-motor... ORPHA:395
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Seizure, Ataxia, Lethargy OMIM:237300
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Tongue fasciculations, Fas... OMIM:607596
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Roifman Syndrome
Eosinophilia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Decrease... ORPHA:353298
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea,... OMIM:275350
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Gait ataxia OMIM:616192
Pyruvate Dehydrogenase E3 Deficiency
Seizure, Ataxia, Lethargy ORPHA:2394
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Diarrhea, Vomiting, Decreased liver function, Hepatic steatosis ORPHA:42
Cyclic Neutropenia
Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsill... ORPHA:2686
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytos... OMIM:619644
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cachexia ORPHA:1389
Ogden Syndrome
Lethargy, Shuffling gait, Abnormal head movements ORPHA:276432
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:201300
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss, Lymphadenopathy ORPHA:411703
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... ORPHA:3261
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Impaired vibration sensation in the ... ORPHA:88628
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Dysphagia OMIM:614808
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Obesity, Hyperphagia, And Developmental Delay
Seizure, Abnormal repetitive mannerisms, Polyphagia, Generalized non-motor (absence) seizure OMIM:613886
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Gastrointestinal dysmotil... OMIM:603041
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Inability to walk, Ch... OMIM:300260
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Depression, Seizure, Progressive gait ataxia,... ORPHA:309271
Isolated Atp Synthase Deficiency
Ataxia, Optic atrophy, Myoclonic seizure, Seizure, Lethargy ORPHA:254913
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vomiting, Intractabl... OMIM:619381
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Solitary Rectal Ulcer Syndrome
Abdominal pain, Episodic abdominal pain, Hematochezia, Chronic constipation, Tenesmus, Bloody dia... ORPHA:209964
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, S... OMIM:607765
Citrullinemia Type I
Seizure, Ataxia, Lethargy ORPHA:247525
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Hyp... OMIM:619750
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Legionnaires Disease
Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Jaundice, Hepatitis, Lymph... ORPHA:549
Papa Syndrome
Increased circulating antibody level, Crohn's disease, Lymphadenopathy ORPHA:69126
Culler-Jones Syndrome
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Microp... OMIM:615849
Idiopathic Achalasia
Malnutrition, Gastroesophageal reflux, Dysphagia, Weight loss ORPHA:930
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Hsd10 Disease, Infantile Type
Restlessness, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Dysphagia... ORPHA:391428
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating ant... OMIM:617591
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Steppage gait, Ga... ORPHA:101076
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Repetitive compulsive behavior, Seizure, Hypertonia, Compulsive be... ORPHA:352490
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Dysphagi... OMIM:608627
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Spastic gait, Decreased amplitude of sensory action po... OMIM:256840
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Atrophy of the spinal cord, Focal-onset sei... ORPHA:329308
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Diarrhea, Jaundice, ... OMIM:211600
Isolated Congenital Hypoglossia/Aglossia
Gastrostomy tube feeding in infancy, Nasogastric tube feeding in infancy, Feeding difficulties, W... ORPHA:141152
Mirage Syndrome
Cryptorchidism, Thrombocytopenia, Chronic diarrhea, Leukopenia, Adrenal insufficiency, Gastroesop... OMIM:617053
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... OMIM:137440
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Primary testicular failure, Hepat... ORPHA:85450
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Unsteady gait, Difficulty walking ORPHA:600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal e... ORPHA:98794
Mitochondrial Complex I Deficiency, Nuclear Type 9
Seizure, Lethargy OMIM:618232
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ataxia, Gait disturbance, Loss of ambulation, Lethargy OMIM:615838
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundi... OMIM:613812
Combined Oxidative Phosphorylation Deficiency 52
Seizure, Lethargy OMIM:619386
Maple Syrup Urine Disease
Seizure, Ataxia, Lethargy OMIM:248600
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Chronic noninfectious lymphadenopathy, Poor appetite, Anorexia... ORPHA:100075
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Distal sensory impairment, Degeneration of anterior horn cells, Tetraplegia, Gait di... OMIM:604484
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Splen... ORPHA:90051
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Weight loss, Gastr... ORPHA:2198
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, T lymphocytopenia, Increased circulating IgM level, Failure to thrive, Reduced natural ... OMIM:242860
Septooptic Dysplasia
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:182230
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... OMIM:301029
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Broad-based gait, Unsteady gait, Gait ataxia OMIM:616652
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... ORPHA:240094
Hijazi-Reis Syndrome
Lower limb spasticity, Ankle clonus, Seizure, Gait disturbance, Abnormal repetitive mannerisms OMIM:301094
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Febrile seizure (within the age range... OMIM:615516
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss, Lym... ORPHA:52417
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Seizure, EEG abnormality, G... ORPHA:411511
Cutaneous Mastocytoma
Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea ORPHA:79455
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Riboflavin Deficiency
Lethargy OMIM:615026
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Status epilepticus, Hypoglycemic seizures ORPHA:276556
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Abdominal pa... ORPHA:2494
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Ataxia, Stereotypical hand wr... OMIM:619229
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting OMIM:606528
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Decreased circulating antibody le... OMIM:226300
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal vibration sensat... OMIM:619574
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Babinski sign, Optic atrophy, Gait ataxia, Seizure, Hyperkinetic movements, Loss of ambul... OMIM:620089
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Constipation ORPHA:99745
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... OMIM:300672
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Nephroblastoma
Neoplasm of the liver, Abdominal pain, Weight loss, Lymphadenopathy ORPHA:654
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
American Trypanosomiasis
Hepatomegaly, Abnormal large intestine physiology, Abdominal pain, Splenomegaly, Diarrhea, Lympha... ORPHA:3386
Infantile Neuroaxonal Dystrophy
Ataxia, Unsteady gait, Optic atrophy, Seizure, Gait disturbance, Abnormal autonomic nervous syste... ORPHA:35069
Friedreich Ataxia
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conduction velocity, Dec... OMIM:229300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Failure to thrive,... OMIM:201100
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Cystic Echinococcosis
Abdominal symptom, Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the... ORPHA:400
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Feeding difficulties, Dysphagia ORPHA:89844
B4Galt1-Cdg
Hepatomegaly, Small for gestational age, Splenomegaly, Diarrhea, Hypothyroidism ORPHA:79332
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Cln3 Disease
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Optic atrophy, Depression, Myoclonic... ORPHA:228346
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Optic atrophy ORPHA:49827
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Chron... OMIM:300972
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Status epilepticus, Hypoglycemic seizures ORPHA:276575
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Bowel incontinence, Failure to thrive in infancy, Cachexia ORPHA:702
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Eosinophilic Gastroenteritis
Eosinophilia, Abdominal pain, Leukocytosis, Diarrhea, Dysphagia, Weight loss, Hematochezia, Vomit... ORPHA:2070
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:162400
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Seizure, Progressive gait ataxia, Optic atrophy ORPHA:309263
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss, Hyperhidrosis ORPHA:99868
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Agitation, Myoclonus, Disinhibition, Apraxia, Oculomot... ORPHA:1020
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Chronic diarrhea, Decreased s... OMIM:614576
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Pulmonary Blastoma
Weight loss ORPHA:64741
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Obesity, Feeding difficulties OMIM:620270
Cog4-Cdg
Fatal liver failure in infancy, Failure to thrive in infancy, Hepatosplenomegaly, Feeding difficu... ORPHA:263501
Friedreich Ataxia
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Dysmetria, Gait atax... ORPHA:95
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Status epilepticus, Hypoglycemic seizures ORPHA:276580
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Weight loss, Cholestat... ORPHA:65682
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Weight loss... ORPHA:99978
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Abdominal pain, Perianal ab... OMIM:301074
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Seizure, Lethargy OMIM:600649
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Gastrostomy tube f... OMIM:613385
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Rett Syndrome
Dystonia, Gait apraxia, Bruxism, Gait ataxia, Seizure, EEG abnormality, Truncal ataxia, Spasticit... OMIM:312750
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Spinocerebellar Ataxia 36
Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Dysphagia, Hypertonia, Tongue fa... OMIM:614153
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first decade, Truncal ata... OMIM:300243
Immunodeficiency 55
Absent natural killer cells, Diarrhea, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Decreased sensory nerve conduction velocity, Optic atrophy, Ataxia OMIM:609033
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Optic neuropathy, Optic atrophy, Focal ... ORPHA:79241
Holocarboxylase Synthetase Deficiency
Seizure, Ataxia, Lethargy ORPHA:79242
Pediatric-Onset Graves Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Thyrotoxicosis with diffuse goiter, Increased ci... ORPHA:525731
Infantile Liver Failure Syndrome 2
Seizure, Lethargy OMIM:616483
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Inability to walk, Steppage gait, Gait disturbance, Gait imb... ORPHA:90658
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Seizure, Status epil... OMIM:615663
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Portal inflammation, Po... OMIM:602347
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Steppage gait, Optic atrophy OMIM:601152
Ataxia-Telangiectasia
Failure to thrive, Abnormal testis morphology, Decreased circulating antibody level, Polycystic o... ORPHA:100
Hirschsprung Disease
Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, Abdominal pain, Diarrh... ORPHA:388
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... ORPHA:371364
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Loss of ability to walk in early childhood, Infantile spasms, Inabilit... OMIM:612073
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obses... OMIM:618825
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Infantile spasms, Hypsarrhythmia, Gait ataxia, Seizure, Myoclonus, Lethargy OMIM:618321
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Renpenning Syndrome
Decreased testicular size, Cachexia ORPHA:3242
Felty Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Weight loss, Bone marrow hypocellu... ORPHA:47612
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Paraplegia, Seizure, Agitation, Lethargy, Abnormal repetitive mannerisms ORPHA:927
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, Seizure, EEG abnormality, Ony... OMIM:182290
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Abdominal pain, Increased proportion of ... ORPHA:398063
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympha... ORPHA:1572
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Seizure, Compulsive behaviors, Spa... OMIM:618430
Brunner Syndrome
Diarrhea OMIM:300615
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... ORPHA:64280
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Riddle Syndrome
Decreased circulating IgG level, Ataxia OMIM:611943
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Protracted diarrhea, Agammaglobulinemia,... OMIM:209920
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... ORPHA:97289
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Abdominal pain, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight l... ORPHA:520
Immunodeficiency 9
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... OMIM:612782
Graft Versus Host Disease
Abdominal pain, Diarrhea, Jaundice, Gastrointestinal inflammation, Lymphadenopathy, Hepatosplenom... ORPHA:39812
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... OMIM:301058
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Angelman Syndrome
Tremor, Hyperactivity, Ataxia, Tongue thrusting, Seizure, EEG abnormality, Myoclonus, Atypical ab... ORPHA:72
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia, Involuntary movements, Infantile spasms, Myoclonic seizure, Dysphagia, Sp... ORPHA:572013
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Myelopathy, Abnormal spinal c... ORPHA:139396
Fragile X Syndrome
Abnormal head movements OMIM:300624
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy OMIM:613561
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... OMIM:618944
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Tetraparesis, Spasticity, Dysphagia OMIM:617892
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... OMIM:620352
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Dysphagia OMIM:615911
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Portal ... ORPHA:131
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Hypertonia, Gait disturbance, Comp... OMIM:300986
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Abdominal pain, Splenomegaly, Lymphadenitis, Leukocytosis, Chronic diarrhea, Choles... OMIM:615895
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Seizure, Lethargy ORPHA:2089
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Mediastinal lymphaden... ORPHA:139411
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Immunodeficiency 10
Autoimmune hemolytic anemia, Hypohidrosis, Thrombocytopenia, Lymphadenopathy OMIM:612783
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Increased circulating IgM ... ORPHA:2688
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chroni... OMIM:612132
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms ORPHA:250972
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Tongue thrusting, Spastic tetraplegia, Hy... OMIM:220120
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Bruxism, Seizure, Athetosis, EEG abnormality, Apraxia, Spasti... OMIM:613454
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Optic atrophy, EEG with focal epileptiform dis... ORPHA:1187
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ataxia, Seizure, Myoclo... OMIM:103050
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphade... OMIM:615934
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Hyperhidrosis, Feeding difficult... ORPHA:813
Wilson Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, We... ORPHA:905
Spinocerebellar Ataxia 34
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... OMIM:133190
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity OMIM:604320
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgG2 level, Chronic dia... OMIM:208900
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus, Dysphagia ORPHA:324708
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... ORPHA:2388
Anaplastic Thyroid Carcinoma
Weight loss, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter ORPHA:142
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Increased circulating IgE level, Secretory diarrhea, Vomiting OMIM:616069
Flynn-Aird Syndrome
Primary adrenal insufficiency, Cachexia ORPHA:2047
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Ataxia, Decreased nerve conduction velocity, Seizure, ... OMIM:214500
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... ORPHA:67045
Autosomal Agammaglobulinemia
Diarrhea, Hepatitis, Agammaglobulinemia, Neutropenia, Failure to thrive ORPHA:33110
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of neutrophils, Anorexi... ORPHA:33226
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Seizure, EEG ... ORPHA:1934
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Full Schwannomatosis
Bilateral vestibular schwannoma, Hypoesthesia, Spinal cord tumor, Seizure, Paresthesia, Fascicula... ORPHA:93921
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Seizure, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bru... OMIM:617903
Valinemia
Hyperkinetic movements OMIM:277100
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Ataxia OMIM:604168
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia OMIM:619780
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Parkinsonism, Disinhibition, Inappropriate laughter, Polyphagia OMIM:600274
Hereditary Sensory And Autonomic Neuropathy Type 1
Inability to walk, Steppage gait, Gait imbalance, Abnormality of the autonomic nervous system, De... ORPHA:36386
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Abdominal pain, Diarrhea, Acute lymphoblas... ORPHA:486
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Gastroeso... ORPHA:443811
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... OMIM:616973
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Abdominal distention, Diarrhea, Cholestasis, Anemia, Vomiting, Decr... OMIM:608104
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Bloody diarrhea, Hemat... OMIM:617718
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms, Tetraparesis ORPHA:85277
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Perry Syndrome
Akinesia, Depression, Inappropriate behavior, Disinhibition, Short stepped shuffling gait OMIM:168605
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... OMIM:619435
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Seizure, Self-injurious behavior, Skin-pi... OMIM:600430
Parkinsonian-Pyramidal Syndrome
Dystonia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Dysphagia, Bradykinesia... ORPHA:171695
Immunodeficiency 62
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:618459
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc... ORPHA:803
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Chronic diarrhea, Increased circulating IgE level, Eosinophilia OMIM:618523
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Cervical lymphadenopathy, Chronic diar... OMIM:142680
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:618598
Multiple Mitochondrial Dysfunctions Syndrome 1
Focal-onset seizure, Facial paralysis, Myoclonus, Lethargy OMIM:605711
Intellectual Developmental Disorder, X-Linked 12
Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Spasticity OMIM:300957
Carnitine Palmitoyl Transferase 1A Deficiency
Seizure, Lethargy ORPHA:156
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Nmda Receptor Encephalitis
Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Oculogyric crisis, Ort... ORPHA:217253
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Hyperkinetic movements, Lim... ORPHA:93958
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Pheochromocytoma, Hepatome... ORPHA:97261
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Atrophic gastritis, Hepatic steatosi... OMIM:615846
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Hypoglycemic seizures ORPHA:324575
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li... OMIM:608643
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Hyperactivity, Bilateral tonic-clonic seizure, Facial-lingual fasci... OMIM:617281
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Seizure, Myoclonus, Dysphagia, Generaliz... ORPHA:93399
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic diarrhea, Chro... OMIM:615607
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Focal-onset seizure, Inability to walk, Dysphagia, Seizure, Status epilepticus, Interictal epilep... OMIM:617802
Immunodeficiency 40
Hepatomegaly, Chronic diarrhea, Eosinophilic granuloma, T lymphocytopenia, Reduced antigen-specif... OMIM:616433
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Abdominal pain, Lymphadenopathy ORPHA:85414
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Abdominal distention, Diarrhea, Lymphadenopathy, Leukopenia, Vomiting, Microangio... ORPHA:93552
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,... ORPHA:67
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia,... OMIM:603553
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid... ORPHA:3157
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facial diplegia... OMIM:619121
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Increased hepatitis B virus antibody level, Abdominal distention, Abnormal liver ... ORPHA:90003
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Seizure, Lethargy OMIM:201450
Tetrasomy 12P
Cachexia, Hypohidrosis ORPHA:884
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Abdominal pain, Abdominal distention, Diarrhea, Thyroiditis, Weight loss, Iron... OMIM:212750
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Elevated circulating growth hormon... ORPHA:97287
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Mogs-Cdg
Hepatomegaly, Decreased circulating antibody level, Hydrocele testis, Hepatosplenomegaly, Decreas... ORPHA:79330
Fg Syndrome Type 1
Broad-based gait, Hypospadias, Short stature, Cryptorchidism, Small pituitary gland, Compulsive b... ORPHA:93932
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation, Hyperhidrosis OMIM:615548
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Optic atrophy, Tetraplegia, Spasticity, Dysphagia, Fascic... ORPHA:496641
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Abnormal synaptic transmission, Bradykin... ORPHA:683
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Seizure, Athe... OMIM:615356
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Seizure, Tip-toe gait, Gait disturbance ORPHA:512
Tuberculosis
Weight loss ORPHA:3389
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, Decreased body weight, H... OMIM:607906
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Eosinophilia, Thyroiditis, Hepatitis, Weight loss, Lymphadenopathy, Lympho... ORPHA:139402
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Abdominal pain, Pancreatic cysts, Portal hypertension, ... ORPHA:284
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Typical abse... ORPHA:845
Glutaric Aciduria Iii
Hyperthyroidism, Diarrhea, Vomiting, Failure to thrive, Goiter OMIM:231690
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cachexia OMIM:618186
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity OMIM:618201
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Abdominal pain, Splenomegaly, Leukocytos... ORPHA:829
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Optic atrophy, Ataxia OMIM:610651
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss ORPHA:33577
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lympha... ORPHA:1451
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomega... OMIM:618278
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Tethered cord, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Aganglionic megacolon, Aggressive behavior, Seizure, Hypertonia... OMIM:300352
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Chronic diarrhea, Leukopenia, Hepatic fibrosis, Bone marrow hypoce... OMIM:613989
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Progr... ORPHA:466722
Syndromic Diarrhea
Dependency on intravenous nutrition, Hepatomegaly, Small for gestational age, Gastritis, Increase... ORPHA:84064
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Seizure, Lethargy OMIM:277410
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... OMIM:609136
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Re... OMIM:601495
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Failure to thrive ORPHA:217346
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait ataxia, Abnormal auton... OMIM:614575
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Poor appetite, Diarrhea, Increased circulating... ORPHA:542323
Igg4-Related Aortitis
Intestinal obstruction, Increased circulating IgG4 level, Abdominal pain, Increased circulating I... ORPHA:449400
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Choles... ORPHA:95427
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Diarrhea, Hepatomegaly OMIM:252920
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Protein avoidance, Splenomegaly, Thrombocytopenia, Malnutrition, Diarrhea, ... OMIM:222700
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Seizure, Abnormal repetitive mannerisms OMIM:613443
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Scrub Typhus
Nausea and vomiting, Abdominal pain, Splenomegaly, Hyperhidrosis, Lymphadenopathy ORPHA:83317
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Seizure, Ataxia, Lethargy OMIM:201470
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Microtriplication 11Q24.1
Speech apraxia, Seizure, Hyperkinetic movements, Bruxism ORPHA:289522
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Prostatiti... ORPHA:449432
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Gait disturbance, Shuffling gait... OMIM:168601
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... OMIM:619476
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... ORPHA:100086
Cog2-Cdg
Small pituitary gland ORPHA:435934
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97278
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Myoclonic seizure, Hypsarrhythmia, Increased circulating IgG lev... OMIM:618213
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Failure to thrive, Vomiting, Diarrhea OMIM:615863
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Diarrhea, Weight loss, Failure to thrive, Anemia ORPHA:1842
Diarrhea 13
Hepatic steatosis, Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Meningococcal Meningitis
Seizure, Papilledema, Lethargy ORPHA:33475
Spinal Muscular Atrophy, X-Linked 2
Decreased compound muscle action potential amplitude, Facial palsy OMIM:301830
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hep... OMIM:614602
Angiostrongyliasis
Increased circulating IgA level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Shigellosis
Acute colitis, Failure to thrive in infancy, Abscess, Anorexia, Abdominal pain, Leukocytosis, Per... ORPHA:810
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g... ORPHA:488613
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, N... ORPHA:199299
Immunodeficiency 23
Ataxia, Increased circulating IgE level, Increased circulating IgG level, Increased circulating I... OMIM:615816
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Increased body weight, C... ORPHA:264580
Medulloblastoma
Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia associated with qua... ORPHA:616
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Broad-based gait, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97283
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Vomiting, Decreased liv... ORPHA:79319
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysmetria, EEG abnormality, Gene... ORPHA:456312
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Steppage gait, Abnormality of peripheral nerve conduction ORPHA:168563
48,Xxyy Syndrome
Ataxia, Tremor, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:10
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:36412
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Diarrhea, Hepatomegaly OMIM:252900
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Broad-based gait ORPHA:477817
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Biotinidase Deficiency
Seizure, Ataxia, Optic atrophy, Lethargy OMIM:253260
Diarrhea 9
Diarrhea, Failure to thrive OMIM:618168
Cerebrotendinous Xanthomatosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve... ORPHA:909
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Chronic diarrhea, Hepatic steatosi... OMIM:618805
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Diarrhea, Perit... OMIM:249100
Brucellosis
Liver abscess, Anorexia, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Abnormality ... ORPHA:1304
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Abdominal pain, Biliary hyperplasia... ORPHA:567983
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Abdominal pain, Splenomegaly, Leukocytosis, Lymp... OMIM:615688
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Limb ataxia, Gait ataxia, Progressive gait ataxia, Inc... OMIM:606002
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia OMIM:617839
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Seizure, Self-injurious behavior, Attention deficit hyperacti... ORPHA:313892
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Diarrhea, Neutropenia in presence of an... ORPHA:391487
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Abdominal pain, Intestinal bleeding, Lymphadenopathy ORPHA:424019
Carnitine Palmitoyltransferase I Deficiency
Seizure, Lethargy OMIM:255120
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Webb-Dattani Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:615926
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia ORPHA:1876
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Tongue fasciculations ORPHA:1145
Gm2 Gangliosidosis, Ab Variant
Postnatal growth retardation, Abnormal fear-induced behavior, Inappropriate behavior, Short stature ORPHA:309246
X-Linked Creatine Transporter Deficiency
Ileus, Constipation, Cachexia ORPHA:52503
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Galactosemia I
Hemolytic anemia, Hepatomegaly, Diarrhea, Vomiting, Decreased liver function, Cirrhosis, Failure ... OMIM:230400
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Seizure, Spasticity, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Encephalitis Lethargica
Seizure, Increased circulating antibody level, Lethargy ORPHA:83600
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Choreoathetosis, Seizure, Syringomyelia, Attention deficit hyperactivity disorder... ORPHA:261197
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM OMIM:243700
Carcinoid Syndrome
Nausea and vomiting, Chronic noninfectious lymphadenopathy, Lack of bowel sounds, Hepatic necrosi... ORPHA:100093
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension, Bilateral tonic-clonic seizure, Ataxia, Im... OMIM:268800
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Seizure, Att... OMIM:620242
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Diarrhea, Abnormal T cell subset dist... ORPHA:221139
Snijders Blok-Campeau Syndrome
Speech apraxia, Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention d... OMIM:618205
Fructose-1,6-Bisphosphatase Deficiency
Seizure, Lethargy OMIM:229700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Diarrhea, Decreased c... OMIM:240300
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Hepatomegaly, Abdominal colic, Functional intestinal obstruction, Chronic no... ORPHA:100079
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Ileal Neuroendocrine Tumor
Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic cholestasis, Weight... ORPHA:100078
4Q21 Microdeletion Syndrome
Tremor, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Poor appetite, Megaloblastic anemia, Anisopoiki... ORPHA:35858
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Diarrhea, Hepatic failure, Vomiting, Hepatic fibrosis, Cirrhosis, Steatorrhea, Fail... OMIM:602579
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Impaired T cell function, Abnormality of thyroid ph... ORPHA:1830
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Hypsarrhythmia, Seizure, EEG abnormality, Apathy, Myoclonus, Lethargy ORPHA:20
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Anorexia, Inability to walk, Paraparesis, Hy... ORPHA:2912
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Episodic abdominal p... ORPHA:97280
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea ORPHA:231
Necrotizing Enterocolitis
Small for gestational age, Abdominal distention, Leukocytosis, Diarrhea, Peritonitis, Bloody diar... ORPHA:391673
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Seizure, Atrophy/Degen... ORPHA:70595
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Q Fever
Hepatomegaly, Anorexia, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Wei... ORPHA:781
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Riddle Syndrome
Generalized lymphadenopathy, Abdominal pain, Diarrhea, Weight loss, Decreased circulating total I... ORPHA:420741
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Seizure, Lethargy OMIM:210200
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphadenopathy, Hypoth... ORPHA:99812
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhea, Abdominal distention, ... OMIM:620233
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Cachexia, Abdominal pain, Diarrhea, Hematochezia,... ORPHA:79076
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Anorexia, Feeding difficulties in infancy, Splenomegaly, Leukopenia, Slen... ORPHA:1328
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Dpm1-Cdg
Hepatomegaly, Diarrhea, Hepatosplenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosi... ORPHA:79322
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Lymphadenopathy, Weight loss, Increased circulatin... ORPHA:2905
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ab... OMIM:618342
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to ... OMIM:617799
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... ORPHA:522077
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Diarrhea, Dysphagia OMIM:252930
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Specific Granule Deficiency 2
Absent neutrophil specific granules, Anemia, Neutropenia, Intractable diarrhea, Failure to thrive... OMIM:617475
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Bilateral tonic-clonic seizure OMIM:201475
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Seizure, EEG abnormality, Abnormal repetitive mannerisms OMIM:610883
Propionic Acidemia
Seizure, Lethargy OMIM:606054
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Diarrhea, Increased body weight, Hepatocellular adenoma, Polycystic o... ORPHA:79240
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Relapsing Fever
Neutrophilia, Abdominal pain, Leukocytosis, Diarrhea, Jaundice, Anemia, Leukopenia, Vomiting, Thr... ORPHA:91547
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Diarrhea, Peritonit... ORPHA:32960
Immunodeficiency 56
Cholangitis, Chronic hepatitis due to cryptosporidium infection, Chronic diarrhea, Panhypogammagl... OMIM:615207
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Ataxia, Myoclonus, Dysphagia OMIM:600072
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing OMIM:614857
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Facial pa... ORPHA:297
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ... OMIM:619983
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Lethargy, Decreased circulating... OMIM:607143
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Insulinoma
Seizure, Lethargy ORPHA:97279
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Systemic Capillary Leak Syndrome
Abdominal pain, Leukocytosis, Diarrhea, Weight loss, Pancreatitis ORPHA:188
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Anhidrosis, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclonus, Dyston... OMIM:616271
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Fetal Akinesia Deformation Sequence
Cryptorchidism, Akinesia, Intrauterine growth retardation ORPHA:994
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Babinski sign, Seizure, Hyperkinetic movements, Spasticity OMIM:616420
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Myoclonus, Lethargy OMIM:614922
Chédiak-Higashi Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Seizure, Increased proportion of ... ORPHA:167
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal distention, Diarrhea, Constipation, ... ORPHA:100924
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Seizure, Abnormal repetitive mannerisms ORPHA:529965
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Abnormality of extrapyramidal... ORPHA:100070
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Evans Syndrome
Lethargy ORPHA:1959
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Gastritis, Splenomegaly, Mediastinal... ORPHA:809
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... ORPHA:226307
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Hepatosplenome... ORPHA:2072
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:618969
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Seizure, Gait imbalance, Attention deficit hype... OMIM:619312
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Dengue Fever
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Diarrhea, Leukope... ORPHA:99828
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Thro... ORPHA:50918
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... ORPHA:466768
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Pseudohypoaldosteronism, Hyperaldosteronism, Vomiting,... OMIM:264350
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Macrocephaly-Developmental Delay Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with generalized slow activity ORPHA:397612
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Orchitis, Spl... ORPHA:342
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Seizure, Self-injurious behavior, Compulsive beh... OMIM:617061
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Aggressive behavior OMIM:300894
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ... ORPHA:99965
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... ORPHA:447997
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Classic Progressive Supranuclear Palsy Syndrome
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance ORPHA:240071
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Dystonia-Aphonia Syndrome
Generalized dystonia, Unsteady gait, Seizure, Gait disturbance, Myoclonus, Dysphagia, Oromandibul... ORPHA:412217
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Broad-based gait, Decreased circulating IgG ... OMIM:619705
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Ataxia, Facial palsy, Depression, Bradykinesia, Seizure, Facial diple... ORPHA:254892
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Episodic ataxia, Seizure, Ataxia, Lethargy OMIM:311250
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... OMIM:619418
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Diarrhea, Activat... ORPHA:424
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Small for gestational age OMIM:613217
Hereditary Late-Onset Parkinson Disease
Akinesia, Impulsivity, Depression, Agitation, Low frustration tolerance, Shuffling gait, Dysphagia ORPHA:411602
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Postencephalitic Parkinsonism
Abnormal aggressive, impulsive or violent behavior, Dysphagia, Akinesia, Depression ORPHA:97349
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Optic nerve hypoplasia, Focal-onset seizure, Inability to walk, Spas... ORPHA:300570
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss ORPHA:2902
Niemann-Pick Disease, Type C2
Ataxia, Dysphagia, Seizure, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Carnitine Deficiency, Systemic Primary
Lethargy OMIM:212140
Citrullinemia, Classic
Seizure, Ataxia, Lethargy OMIM:215700
Galloway-Mowat Syndrome 6
Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Rat-Bite Fever
Parotitis, Lymphadenitis, Diarrhea, Weight loss, Vomiting, Pancreatitis, Anemia ORPHA:31205
Arthrogryposis Multiplex Congenita 6
Hypospadias, Akinesia OMIM:619334
Pseudo-Torch Syndrome 2
Seizure, Lethargy OMIM:617397
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Methylcobalamin Deficiency Type Cble
Seizure, Lethargy ORPHA:2169
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, EEG abnormality, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Generalized my... ORPHA:404454
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Acute colitis... ORPHA:544482
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitarism, Thrombocyto... ORPHA:449285
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest... ORPHA:361
Alg8-Cdg
Small for gestational age, Diarrhea, Feeding difficulties, Anemia, Vomiting, Failure to thrive, T... ORPHA:79325
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Seizure, Gait disturbance, Difficulty... ORPHA:90321
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Megalocornea-Intellectual Disability Syndrome
Seizure, Abnormal repetitive mannerisms, Ataxia, EEG abnormality ORPHA:2479
Multiple Sulfatase Deficiency
Seizure, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Parkinson Disease 17
Akinesia OMIM:614203
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Seizure, Compulsive behavi... ORPHA:401777
Mitochondrial Trifunctional Protein Deficiency
Seizure, Tip-toe gait, Lethargy ORPHA:746
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Clumsiness, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Abno... OMIM:615656
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy OMIM:611590
X-Linked Intellectual Disability, Cabezas Type
Obesity, Decreased testicular size, Cachexia, Hyperhidrosis ORPHA:85293
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Anorex... OMIM:181000
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Optic atrophy, Seizure, Dystonia, ... ORPHA:66634
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... ORPHA:79078
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Pilarowski-Bjornsson Syndrome
Speech apraxia, Seizure, Abnormal repetitive mannerisms OMIM:617682
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Thymoma
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lymphocyte ph... ORPHA:99867
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Seizure, Lethargy ORPHA:263455
Coffin-Siris Syndrome 6
Seizure, Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Hyperhidrosis, Chronic myelogenous leukemia, Weight loss, T... ORPHA:71493
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms ORPHA:3306
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Seizure, Bilateral tonic-clonic seizure OMIM:261515
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Cachexia, Steatorrhea ORPHA:3217
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Diarrhea, Panhypoga... OMIM:307200
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Feeding difficulties, Neu... OMIM:616395
Carnitine-Acylcarnitine Translocase Deficiency
Seizure, Lethargy OMIM:212138
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level, Depression ORPHA:2137
Graves Disease, Susceptibility To, 1
Increased circulating free T4 concentration, Increased circulating free T3, Hyperhidrosis, Weight... OMIM:275000
Huntington Disease-Like 2
Weight loss ORPHA:98934
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... ORPHA:33543
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hypera... ORPHA:476126
Chylomicron Retention Disease
Diarrhea, Malnutrition, Vomiting, Steatorrhea, Failure to thrive OMIM:246700
Developmental And Epileptic Encephalopathy 89
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, EEG with burst suppressio... OMIM:619124
Crimean-Congo Hemorrhagic Fever
Anorexia, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Cholecystitis, Hepatomegaly... ORPHA:99827
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm... ORPHA:729
Lactase Deficiency, Congenital
Diarrhea OMIM:223000
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Anorexia, Nausea, Orchitis, Abdominal pain, Odynophagia, Diarrhea, ... ORPHA:99826
Chylomicron Retention Disease
Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Increased hepatocellular l... ORPHA:71
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Feeding diff... ORPHA:171876
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Alazami Syndrome
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... ORPHA:319671
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Splenomegaly, Hypothyroidi... ORPHA:465508
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Weight loss ORPHA:103910
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding ORPHA:289504
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Hypothyroidism, Akinesia OMIM:619147
Myeloma, Multiple
Paraproteinemia OMIM:254500
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia ORPHA:247234
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Feeding difficulties, Pseudohypoaldosteronism, Hyperaldosteronism, Vomiting, Failure to... OMIM:177735
Leigh Syndrome
Ataxia, Involuntary movements, Infantile spasms, Chorea, Optic atrophy, Spastic diplegia, Dysphag... ORPHA:506
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Encopresis, Diarrhea, Obesity, Dysphagia, Gastroesophageal reflux, Constipation, ... ORPHA:589821
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... ORPHA:3260
Neurodegeneration And Seizures Due To Copper Transport Defect
Seizure, Focal impaired awareness seizure, Lethargy OMIM:620306
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Hyperhidrosis ORPHA:29822
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... ORPHA:99819
Smith-Magenis Syndrome
Impaired pain sensation, Seizure, EEG abnormality, Self-injurious behavior, Gait disturbance, Att... ORPHA:819
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Chronic diarrhea, Lymphadenopathy, Anemia, Hepat... ORPHA:333
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Jaundice, Increased circulating IgM level, Dysphagia ORPHA:99824
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level, Bloody diarrhea OMIM:614328
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Bloody diarrhea, Feeding difficulties OMIM:615119
Lysinuric Protein Intolerance
Hepatomegaly, Decreased response to growth hormone stimulation test, Diarrhea, Hepatic failure, H... ORPHA:470
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy OMIM:604377
Holocarboxylase Synthetase Deficiency
Seizure, Lethargy OMIM:253270
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic steatosis, Hepatomegaly, Feeding difficulties in infancy... OMIM:212065
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Childhood Disintegrative Disorder
Seizure, Abnormal repetitive mannerisms ORPHA:168782
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... ORPHA:35710
Vici Syndrome
Decreased circulating IgG level, Optic atrophy, Seizure, EEG abnormality, Decreased circulating I... ORPHA:1493
Aceruloplasminemia
Diabetes mellitus, Ataxia, Akinesia, Abnormal pancreas morphology, Abnormal thalamic MRI signal i... ORPHA:48818
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Congenital Disorder Of Deglycosylation 1
Restlessness, Pain insensitivity, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Dysme... OMIM:615273
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Failure to thrive in infancy, Poor appetite, Diarrhea,... ORPHA:247598
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon... ORPHA:177907
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Weight loss, Failure to thrive, Anemia OMIM:256700
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Chronic diarrhea, Acute leukemia, Thromb... ORPHA:647
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Deeah Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:619004
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... ORPHA:2575
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Exocrine pancreatic insuffic... ORPHA:309108
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Colitis, Thrombocytopenia OMIM:616744
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,... OMIM:254900
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,... OMIM:242900
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, Hypertoni... OMIM:615802
Addison Disease
Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular f... ORPHA:85138
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Impaired pain sensation, Gait ataxia, Abnormal repetitive mannerisms, Overfriendl... OMIM:616579
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Acute Radiation Syndrome
Diarrhea, Vomiting, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Trichinellosis
Lethargy, Increased circulating IgE level, Apathy, Facial palsy ORPHA:863
Avian Influenza
Abdominal pain, Diarrhea, Hepatitis, Leukopenia, Vomiting, Lymphopenia, Thrombocytopenia ORPHA:454836
Zygomycosis
Gastrointestinal hemorrhage, Brain abscess, Gastritis, Nausea, Abdominal pain, Hematemesis, Media... ORPHA:73263
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Takayasu Arteritis
Anorexia, Weight loss, Hyperhidrosis, Gastrointestinal infarctions, Anemia ORPHA:3287
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, Hyperechogenic pancreas, Fai... OMIM:617941
Müllerian Aplasia And Hyperandrogenism
Short stature, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, ... ORPHA:247768
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Gait ataxia, Difficu... ORPHA:99949
Pneumocystosis
Weight loss, Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Seizure, Abnormal temper tantrums, Abnormal repetitiv... ORPHA:457279
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenome... ORPHA:75565
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Acute pancreatitis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Hepat... OMIM:619487
Enteric Anendocrinosis
Diarrhea, Vomiting, Portal hypertension, Cholestatic liver disease ORPHA:83620
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Cockayne Syndrome A
Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, ... OMIM:216400
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Carnitine-Acylcarnitine Translocase Deficiency
Seizure, Lethargy ORPHA:159
Trichohepatoenteric Syndrome 1
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit... OMIM:222470
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Chronic diarrhea, Dysphagia... OMIM:618131
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Abnormal temper tantrums, A... ORPHA:449291
Citrullinemia Type Ii
Seizure, Mania, Lethargy ORPHA:247585
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Pituitary null cell ade... ORPHA:913
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Aa Amyloidosis
Hepatomegaly, Abdominal pain, Chronic diarrhea, Malnutrition, Cholestasis, Vomiting, Adrenal insu... ORPHA:85445
Isolated Complex I Deficiency
Lethargy, Ataxia, Optic disc pallor, Optic neuropathy ORPHA:2609
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Seizure, Progressive cerebellar ataxia, Generalized myoclonic seizure, Lethargy, Spastic gait ORPHA:415
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Clonic seizure, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, I... OMIM:619475
Argininosuccinic Aciduria
Seizure, Ataxia, Lethargy OMIM:207900
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Pineoblastoma
Seizure, Papilledema, Lethargy ORPHA:251909
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Hepatomegaly, Episodic abdominal pain, Hematochezia,... ORPHA:97282
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Abdominal pain, Microvesicular hepatic steatosis, Secretory di... OMIM:619377
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Kufor-Rakeb Syndrome
Bradykinesia, Apathy, Myoclonus, Gait disturbance, Difficulty walking, Lethargy ORPHA:306674
Beta-Ketothiolase Deficiency
Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Weight loss, Vomiting, Thrombocytosis ORPHA:134
Hurler Syndrome
Abnormal nerve conduction velocity, Depression ORPHA:93473
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Hepatosplenomegaly OMIM:309900
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy, Hypertonia, Difficulty walking, Abnormal repet... OMIM:123450
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Akinesia OMIM:253290
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Bilateral ... OMIM:613457
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Diarrhea, Abdominal pain OMIM:615399
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Familial Hypoaldosteronism
Lethargy, Orthostatic hypotension ORPHA:427
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seizure, Lethargy OMIM:210210
Peroxisome Biogenesis Disorder 5A (Zellweger)
Generalized-onset seizure, Optic nerve dysplasia, Optic atrophy, Seizure, Athetosis, Lethargy OMIM:614866
Hydranencephaly
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... ORPHA:2177
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy OMIM:251000
Obesity Due To Congenital Leptin Deficiency
Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased proportion of CD4-positive ... ORPHA:66628
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... ORPHA:51636
Methylmalonic Acidemia With Homocystinuria Type Cblf
Seizure, Lethargy ORPHA:79284
Cockayne Syndrome
Anhidrosis, Hepatomegaly, Cachexia, Feeding difficulties in infancy, Splenomegaly, Cryptorchidism... ORPHA:191
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Abdominal pain, Retroperitoneal fibrosis, Lymphad... ORPHA:449395
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Weight loss ORPHA:98897
Nk-Cell Enteropathy
Abdominal pain, Increased T cell count, Diarrhea, Hematochezia, Gastroesophageal reflux, Constipa... ORPHA:263665
Yao Syndrome
Abdominal pain, Diarrhea, Xerostomia, Weight loss OMIM:617321
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Optic atrophy, Optic neuropathy ORPHA:320375
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Failure to thrive, Chronic diarrhea OMIM:606824
Lujo Hemorrhagic Fever
Leukocytosis, Fulminant hepatitis, Odynophagia, Diarrhea, Hyperhidrosis, Leukopenia, Vomiting, Ab... ORPHA:319213
White-Sutton Syndrome
Hyperactivity, Incoordination, Aggressive behavior, Optic atrophy, Seizure, EEG abnormality, Self... ORPHA:468678
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting OMIM:619445
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Vici Syndrome
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgG2 level, Decreased T... OMIM:242840
Intellectual Developmental Disorder, Autosomal Dominant 48
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia, Weight loss ORPHA:1302
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea OMIM:614379
Obesity Due To Leptin Receptor Gene Deficiency
Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased proportion of CD4-positive ... ORPHA:179494
Stevens-Johnson Syndrome
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abnormality of neutrophi... ORPHA:36426
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, ... OMIM:219700
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Akinesia OMIM:225790
Cockayne Syndrome B
Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, ... OMIM:133540
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Abdominal colic, Intestinal obstruction, Chronic diarrhea, Decr... ORPHA:90363
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Parotitis, Increased circulating... OMIM:256040
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, Failure to thrive, Vomiting OMIM:601110
Rapadilino Syndrome
Diarrhea, Feeding difficulties OMIM:266280
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating free T4 concentration, Hyperthyroidism, Weight loss, Increased circulating ... OMIM:613239
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Howell-Jolly bodies, Gastroparesis, Abdominal distenti... ORPHA:85443
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Failure to thrive, Steatorrhea OMIM:613291
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, C... OMIM:612541
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Hyperprolinemia Type 2
Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain ORPHA:79101
Chromosome 5P13 Duplication Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffuse goiter, Abnorm... ORPHA:64744
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Seizure, Lethargy OMIM:608836
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, Decreased testicular size OMIM:300215
Sialuria
Seizure, Hyperkinetic movements, Attention deficit hyperactivity disorder ORPHA:3166
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... OMIM:606232
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Pancreatic fibrosis, Small for gestational... OMIM:557000
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni... ORPHA:906
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea OMIM:251850
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Seizure, Obsessive-compulsive trait, Abnormal repetitive mannerisms OMIM:617796
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth... OMIM:607944
Adiposis Dolorosa
Diarrhea, Xerostomia, Obesity, Constipation, Hypothyroidism ORPHA:36397
Fabry Disease
Abdominal pain, Diarrhea, Hypohidrosis, Tenesmus, Vomiting, Nausea, Anemia OMIM:301500
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Chronic decreased circulating IgG1, Panhypopituitarism, Decreased testicular size OMIM:300953
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Diarrh... ORPHA:324636
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Gm1 Gangliosidosis
Splenomegaly, Weight loss, Feeding difficulties, Hepatosplenomegaly, Gastroesophageal reflux, Dys... ORPHA:354
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Orchitis, Retroperitoneal fibrosis, ... ORPHA:449563
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss ORPHA:317
Acute Adrenal Insufficiency
Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Anorexia, Abdominal... ORPHA:95409
Methylmalonic Aciduria, Cbla Type
Seizure, Lethargy OMIM:251100
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Diarrhea, Failure to thrive, Vomiting OMIM:560000
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Gait disturbance, Dysp... OMIM:234200
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Seizure, Hypertonia, Abnormal repetitive mannerisms, Self-mut... OMIM:212066
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Abnormality of cervical plexus, Seizure, Abnormality of the bra... ORPHA:449427
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Abdominal pain, Leukocytosis, Schistocytosis, Diarrhea, Peritonit... ORPHA:90038
Malakoplakia
Orchitis, Abdominal pain, Diarrhea, Follicular hyperplasia ORPHA:556
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Short stature, Postnat... OMIM:206900
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Joubert Syndrome 6
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia OMIM:610688
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Lethargy OMIM:252010
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Infantile spasms, Optic atrophy, Seizure, Lethargy ORPHA:79282
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Weight l... ORPHA:370348
Staphylococcal Necrotizing Pneumonia
Lethargy ORPHA:36238
Giant Cell Arteritis
Anorexia, Abdominal pain, Mediastinal lymphadenopathy, Weight loss, Hyperhidrosis, Gastrointestin... ORPHA:397
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Cachexia ORPHA:109
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Weight loss, Cholestatic liver diseas... ORPHA:92050
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circulating antibody level, ... ORPHA:2136
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Dysphagia, Abnormality of visual evoked potentials ORPHA:52368
Schwartz-Jampel Syndrome
Cachexia, Feeding difficulties in infancy, Decreased body weight, Testicular torsion, Decreased t... ORPHA:800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Gen... OMIM:614756
Listeriosis
Brain abscess, Liver abscess, Abscess, Abdominal pain, Diarrhea, Peritonitis, Abnormal cellular i... ORPHA:533
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Hypospadias, Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Gait di... ORPHA:464306
Blue Diaper Syndrome
Decreased circulating T4 concentration, Diarrhea, Increased body weight ORPHA:94086
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Erythermalgia, Primary
Diarrhea, Constipation, Xerostomia, Hyperhidrosis OMIM:133020
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemic seizures ORPHA:71212
Blepharophimosis-Impaired Intellectual Development Syndrome
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness OMIM:619293
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Abdominal distention, Hepatitis, Bloody diarrhea, Hypoplasia of the ... ORPHA:436252
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pheochromocy... ORPHA:652
Wilson Disease
Decreased nerve conduction velocity, Seizure OMIM:277900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... OMIM:618914
22Q11.2 Duplication Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... ORPHA:1727
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Thrombocytopenia, Xerostomia, Thyroiditis, Biliary c... ORPHA:289390
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia ORPHA:90035
Wild Type Attr Amyloidosis
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, In... ORPHA:330001
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:276152
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Disproportionate short-limb short stature, Micropenis, Hypospadias, Small pituitary gland OMIM:619479
White-Sutton Syndrome
Waddling gait, Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Hypoglycemic seizures,... OMIM:616364
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Kawasaki Disease
Nausea and vomiting, Abdominal pain, Leukocytosis, Cervical lymphadenopathy, Diarrhea, Hepatitis,... ORPHA:2331
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Akinesia, Dysphagia OMIM:608013
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Seizure, Abnormal repetitive mannerisms ORPHA:500159
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Colitis, Ste... ORPHA:309031
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... OMIM:127550
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy OMIM:609015
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Parkinsonism, Fatigable weakness of skeletal muscles, Abnormal syn... ORPHA:1320
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Broad-based gait, Pain insensitivity, Ataxia, Dysmetria, Gait ataxia, Dysphagia, ... OMIM:617330
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... ORPHA:2035
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis OMIM:619079
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Cholera
Seizure, Lethargy ORPHA:173
Congenital Myopathy 12
Akinesia OMIM:612540
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Diarrhea, T lymphocytopenia, B lymphocytopenia... OMIM:251260
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Jaundice, Malnutrition, Weight loss, Chronic calcifying pancre... ORPHA:103918
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Trisomy 18
Cryptorchidism, Cachexia ORPHA:3380
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia OMIM:616457
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Abdominal distention, Cervical lymphadenopathy, Primary hyperparathyr... ORPHA:653
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Abdominal pa... ORPHA:99829
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... ORPHA:228123
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys... OMIM:158350
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal repetitive manne... OMIM:620073
Pitt-Hopkins Syndrome
Incoordination, Gait ataxia, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:610954
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper tantrums, Abnorm... OMIM:619103
Cirrhosis, Familial
Lethargy OMIM:215600
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, EEG abnormality, Abnormality of ... ORPHA:79138
Plague
Hepatomegaly, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Lymphadenitis, Diarrhea, Enter... ORPHA:707
Canavan Disease
Abnormality of visual evoked potentials, Feeding difficulties in infancy, Gastroesophageal reflux ORPHA:141
Huntington Disease-Like 2
Weight loss OMIM:606438
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia ORPHA:3240
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Splenomegaly, Enlarged... ORPHA:744
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly, Diarrhea, Dysphagia, Tube feeding OMIM:252940
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp... OMIM:602782
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Steatorrhea, Feeding difficulties, Recurrent pancre... OMIM:618268
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Amoebiasis Due To Free-Living Amoebae
Seizure, Ataxia, Facial palsy, Lethargy ORPHA:68
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea OMIM:176000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Diarrhea, Thyroiditis, Enterocolitis, Polyc... ORPHA:79259
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Abdominal pain, Hematemesis, Leukocytosis, Dia... ORPHA:340
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Hepatomegaly, Failure to thrive ORPHA:2971
Hereditary Fructose Intolerance
Seizure, Lethargy ORPHA:469
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Failure to thrive, Weight loss ORPHA:79128
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Non-Functioning Paraganglioma
Episodic abdominal pain, Episodic hyperhidrosis, Nausea, Weight loss ORPHA:94080
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Erythroderma Desquamativum
Diarrhea, Failure to thrive ORPHA:314
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Abdominal pain, Hepatosplenomeg... ORPHA:31150
Melas
Hypoparathyroidism, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Recurr... ORPHA:550
Bacterial Toxic-Shock Syndrome
Abscess, Nausea, Abdominal pain, Diarrhea, Peritonitis, Increased circulating myelocyte count, He... ORPHA:36234
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Increased circulating IgA level, Enlarged polycysti... ORPHA:2298
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Seizure, EEG abnormality, Attention deficit hyperactivity disorder, Abno... OMIM:619005
Cysticercosis
Generalized-onset seizure, Ataxia, Focal-onset seizure, Seizure, Increased circulating antibody l... ORPHA:1560
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Seizure, Lethargy OMIM:277400
Renal Hypoplasia, Bilateral
Lethargy ORPHA:97362
Congenital Myopathy 20
Chronic diarrhea, Failure to thrive OMIM:620310
Methylmalonic Aciduria, Cblb Type
Lethargy OMIM:251110
Semilobar Holoprosencephaly
Inability to walk, Depression, Seizure, Apathy, Abnormality of the autonomic nervous system, Leth... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Depression, Seizure, Apathy, Abnormality of the autonomic nervous system, Leth... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Depression, Seizure, Apathy, Abnormality of the autonomic nervous system, Leth... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Depression, Seizure, Apathy, Abnormality of the autonomic nervous system, Leth... ORPHA:93924
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy OMIM:277380
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Small for gestational age, Microcytic anemia, Leukocytosis, Chronic d... ORPHA:99843
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Infantile Systemic Hyalinosis
Chronic diarrhea, Polycystic ovaries, Feeding difficulties, Steatorrhea, Failure to thrive, Aplas... ORPHA:2176
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... ORPHA:513456
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Diarrhea OMIM:600955
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea OMIM:619446
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Inability to walk, Optic atrophy, Tip-toe gait, ... ORPHA:99956
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Seizure, Papilledema, Optic atrophy ORPHA:580
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Decreased response to growth hormone stimulation test, Impulsivity, Cryptorchid... OMIM:619503
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26793
Supranuclear Palsy, Progressive, 2
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia OMIM:609454
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Parotitis, Eosinophilia, Portal hypertension, Th... ORPHA:797
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Periportal fibrosis, Failure to thrive, Intrahepatic cholestasis OMIM:619484
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Abnormal repetitive mannerisms ORPHA:261144
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Inability to walk, Opisthotonus, Seizure, Hypertonia, Cervical cord co... ORPHA:508533
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Unusual gas... ORPHA:760
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Elevated hepatic iro... OMIM:619991
Holoprosencephaly 9
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:610829
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance, Abnormal pyramidal sign ORPHA:213
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of t... ORPHA:221008
Juvenile Polyposis Syndrome
Abdominal pain, Diarrhea, Hematochezia, Failure to thrive, Anemia OMIM:174900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Aggressive behavior, Unsteady gait, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements,... ORPHA:17
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Abnormal erythrocyte morphology, Diarrhea, Malnutrition, Decreased body weight ORPHA:96180
Encephalopathy, Ethylmalonic
Chronic diarrhea, Failure to thrive, Feeding difficulties OMIM:602473
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... ORPHA:228119
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Reye syndrome-like episodes, Abdom... OMIM:256810
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... ORPHA:96121
Caffey Disease
Increased circulating antibody level ORPHA:1310
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Anorexia ORPHA:1969
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Poor appetite, Anemia, Weight loss ORPHA:324964
14Q22Q23 Microdeletion Syndrome
Small scrotum, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, ... ORPHA:264200
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Bainbridge-Ropers Syndrome
Inability to walk, Seizure, Self-injurious behavior, Hypertonia, Recurrent hand flapping, Abnorma... OMIM:615485
Microscopic Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Peritonitis, Gastroin... ORPHA:727
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Histiocytoid Cardiomyopathy
Seizure, Optic atrophy, Lethargy ORPHA:137675
Behçet Disease
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Orchitis, Splenomegal... ORPHA:117
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Abdominal pain, Weight loss, Constipation, G... ORPHA:732
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Pain insensitivity, Bilateral tonic-clonic seizure, Optic nerve hy... OMIM:620330
Vascular Hyalinosis
Hematochezia, Diarrhea OMIM:277175
Liposarcoma
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:69078
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Kleefstra Syndrome 1
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Weight loss ORPHA:3208
H Syndrome
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Decreased testicular size, Histiocytosis ORPHA:168569
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
African Trypanosomiasis
Akinesia, Aggressive behavior, Abnormality of the endocrine system, Abnormality of the menstrual ... ORPHA:3385
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Copper accumulation in liver, Steatorrhea, Periportal fibrosis, Prolonged neona... OMIM:619481
Lynch Syndrome
Neoplasm of the pancreas, Nausea and vomiting, Pancreatic adenocarcinoma, Gastrointestinal hemorr... ORPHA:144
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Depression ORPHA:90674
Seckel Syndrome
Cachexia ORPHA:808
Cockayne Syndrome Type 3
Optic disc pallor, Unsteady gait, Seizure, Difficulty walking, Abnormality of peripheral nerve co... ORPHA:90324
Supranuclear Palsy, Progressive, 1
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia OMIM:601104
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea OMIM:615084
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Leptospirosis
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Diarrhea, Jaundice, Hepatitis, Lymph... ORPHA:509
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
2Q37 Microdeletion Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... ORPHA:1001
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Dysphagi... ORPHA:537
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Neuropathy, Hereditary Sensory And Autonomic, Type V
Anhidrosis, Diarrhea, Constipation OMIM:608654
Autosomal Dominant Epidermolytic Ichthyosis
Poor appetite, Weight loss ORPHA:312
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... OMIM:607485
Arthrogryposis Multiplex Congenita 5
Growth delay, Intrauterine growth retardation, Akinesia OMIM:618947
Alg1-Cdg
Chronic diarrhea, Decreased liver function ORPHA:79327
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Diarrhea, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Nausea and vomiting, Pancreatic adenocarcinoma, Gastrointestinal hemorr... ORPHA:440437
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin... ORPHA:86309
Adrenocortical Carcinoma
Abdominal pain, Adrenocorticotropic hormone deficiency, Increased body weight, Hyperhidrosis, Wei... ORPHA:1501
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Abdominal pain, Intestinal bleeding, Lymphadenopathy ORPHA:424016
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Rothmund-Thomson Syndrome
Small for gestational age, Aplastic anemia, Nasogastric tube feeding in infancy, Diarrhea, Vomiti... ORPHA:2909
Nocardiosis
Brain abscess, Liver abscess, Anorexia, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss, Vom... ORPHA:31204
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... ORPHA:2131
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Chordee, Intrauterine ... OMIM:151050
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Eosinophilia, Abdominal pain, Weight loss, Gastroeso... ORPHA:183
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level OMIM:226990
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperhidrosis, Pseudo... ORPHA:79276
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Optic atrophy, Decreased circulating total IgM, Decreased circulating Ig... OMIM:612301
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipati... ORPHA:500055
Mgat2-Cdg
Infantile spasms, Decreased circulating antibody level, Hypsarrhythmia, Seizure, Decreased lympho... ORPHA:79329
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements ORPHA:369837
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Posterior Urethral Valve
Lethargy ORPHA:93110
Scorpion Envenomation
Restlessness, Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myo... ORPHA:466677
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Optic nerve hypoplasia, Abnormal pyramidal sign, Seizure, Self-injurious behav... ORPHA:468631
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of t... ORPHA:221016
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Glycerol Kinase Deficiency
Seizure, Lethargy OMIM:307030
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Van Esch-O'Driscoll Syndrome
Impulsivity, Unilateral vocal cord paralysis, Seizure, Attention deficit hyperactivity disorder, ... OMIM:301030
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis... OMIM:613471
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... OMIM:301044
Dubowitz Syndrome
Aplastic anemia, Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Acute lymphob... OMIM:223370
Turcot Syndrome With Polyposis
Abdominal pain, Pituitary adenoma, Diarrhea, Hematochezia, Melena, Vomiting, Constipation, Hepato... ORPHA:99818
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Weight loss, Neutropenia, Abnormality of v... ORPHA:79430
Trichothiodystrophy 1, Photosensitive
Chronic diarrhea, Intestinal obstruction, Decreased circulating IgG level, Small for gestational age OMIM:601675
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation OMIM:105210
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Episodic hyperhidrosis, Diarrhea, Constipation, Vomiting, Gastro... OMIM:223900
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Hydroxykynureninuria
Hypertonia, Abnormal repetitive mannerisms ORPHA:79155
Colchicine Poisoning
Leukocytosis, Vomiting, Nausea, Diarrhea ORPHA:31824
Isolated Exencephaly
Anterior pituitary hypoplasia, Posterior pituitary agenesis, Maternal diabetes ORPHA:563612
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Chikungunya
Cervical lymphadenopathy, Vomiting, Diarrhea, Lymphadenopathy ORPHA:324625
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Diarrhea, Constipation, Pheochromocytoma, Parathyroid hyperplasia, ... OMIM:162300
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Mitchell-Riley Syndrome
Absent gallbladder, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pan... OMIM:615710
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms, Seizure, Spasticity, Bilateral tonic-clonic seizure OMIM:301040
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Abnormality of visual evoked potentials, Anemia ORPHA:667
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Secretory diarrhea, Decreased circulating antibody level, Hematochezia, Feeding d... OMIM:618183
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, Intermittent diarrhea, Failure to thrive OMIM:618050
Satoyoshi Syndrome
Diarrhea OMIM:600705
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Optic atrophy, Myoclonic seizure, S... OMIM:619512
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Reye syndrome-like episodes, Diarrhea, Vomiting, Hepatic steatosis ORPHA:348
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Diarrhea OMIM:601979
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hypospadias, Anterior pituitary hypoplasia, Short stature, Aggressive behavior, Cryptorchidism, S... OMIM:619841
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Abnormality of the tonsils, Imp... ORPHA:567
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Delayed puberty, Breas... OMIM:181450
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential OMIM:606071
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Failure to thrive, Vomiting OMIM:610768
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Weight loss, Adrenal pheochromocytoma, Epi... ORPHA:276621
Complete Atrioventricular Septal Defect
Lethargy ORPHA:1329
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Nausea and vomiting, Anorexia, Abdominal pain, Weight loss, Hydrocele testis, ... ORPHA:49041
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive, Anemia OMIM:620358
Kleefstra Syndrome
Aggressive behavior, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil... ORPHA:261494
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Adrenocorticotropin receptor defect, Adrenal insufficiency,... OMIM:231550
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism,... ORPHA:143
Stickler Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Slender build, Cachexia ORPHA:828
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Hypospadias, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induce... ORPHA:353281
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ataxia, Anterior pituitary hypoplasia, Supernumerary nipple, Aggressive behavior, Bilateral crypt... ORPHA:466791
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Multifocal seizures, Aggressive behavior, EEG with central focal ... OMIM:301066
Exercise-Induced Malignant Hyperthermia
Seizure, Ataxia, Lethargy ORPHA:466650
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting, Anemia ORPHA:230
Polyarteritis Nodosa
Abdominal pain, Weight loss ORPHA:767
Distal Renal Tubular Acidosis
Hemolytic anemia, Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive ORPHA:18
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Cryptorchidism ORPHA:314389
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia OMIM:620072
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Perry Syndrome
Weight loss ORPHA:178509
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea, Hyperhidrosis ORPHA:43116
Gitelman Syndrome
Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Diarrhea, Hyperhidrosis, Iron defi... ORPHA:358
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequen... OMIM:619575
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:536
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Mucolipidosis Type Ii
Splenomegaly, Weight loss, Hepatosplenomegaly, Protuberant abdomen, Gastrostomy tube feeding in i... ORPHA:576
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Cryptorchidism ORPHA:3121
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Focal Myositis
Weight loss ORPHA:48918
Abetalipoproteinemia
Reticulocytosis, Hepatic steatosis, Hepatomegaly, Acanthocytosis, Chronic diarrhea, Vomiting, Hep... ORPHA:14
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Simple febrile seizure, Seizure, Gait disturbance, Attention deficit hyperacti... ORPHA:464311
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Neoplasm of the liver, Constipation, Weight loss ORPHA:2126
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the lymphatic system, Lymphadenopathy... ORPHA:538
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials ORPHA:1215
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials OMIM:617523
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Hypogonadis... OMIM:209900
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Acrodermatitis Enteropathica
Poor appetite, Anorexia, Chronic diarrhea, Weight loss, Failure to thrive ORPHA:37
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Depression ORPHA:285
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials ORPHA:96
Digeorge Syndrome
Hepatic steatosis, Parathyroid agenesis, Impaired T cell function, Splenomegaly, Thrombocytopenia... OMIM:188400
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Biliary tract abnormality, Bloody diar... OMIM:175200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy OMIM:617156
Mucopolysaccharidosis Type 3
Hepatomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Constipation, Protuberant abdomen... ORPHA:581
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Hypoperistalsis, Weight loss, Gastroesophageal reflux, Vomiting, Dysphagia, Achalasia,... ORPHA:1018
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Feeding difficulties, Weight loss ORPHA:221098
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Okur-Chung Neurodevelopmental Syndrome
Ataxia, Decreased circulating antibody level, Decreased circulating IgG level, Atonic seizure, De... OMIM:617062
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Hypospadias, Short stature, Impulsivity, Aggressive behavior, Postnatal growth ret... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Hypospadias, Short stature, Impulsivity, Aggressive behavior, Postnatal growth ret... ORPHA:353277
Cherubism
Submandibular lymph node enlargement OMIM:118400
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Fructose Intolerance, Hereditary
Seizure, Lethargy OMIM:229600
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Friedreich Ataxia 2
Ataxia, Abnormality of peripheral nerve conduction OMIM:601992
Radiation Proctitis
Intestinal obstruction, Diarrhea, Tenesmus, Hematochezia, Rectal abscess ORPHA:70475
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Peritonitis, Weight loss, Gastr... ORPHA:679
Postinfectious Vasculitis
Viral hepatitis, Anorexia, Increased circulating IgA level, Orchitis, Abdominal pain, Weight loss... ORPHA:48435
Renal Nutcracker Syndrome
Abdominal pain, Nausea, Anemia, Weight loss ORPHA:71273
Houge-Janssens Syndrome 1
Chronic diarrhea OMIM:616355
Thyrotoxic Periodic Paralysis
Abnormality of peripheral nerve conduction ORPHA:79102
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials OMIM:616875
Cystinosis, Nephropathic
Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Hypohidrosis... OMIM:219800
Erdheim-Chester Disease
Nausea and vomiting, Abdominal pain, Retroperitoneal fibrosis, Weight loss, Hyperhidrosis, Anemia ORPHA:35687
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Weight loss, Adrenal pheochromocytoma, Epi... ORPHA:29072
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Hyperaldosteronism, Secretory diarrhea OMIM:214700
Osteosarcoma
Weight loss ORPHA:668
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena, Abnormality of t... ORPHA:464321
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Weight loss, Dysphagia ORPHA:97286
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Microvesicular hepatic steatosis, Micronodular cirrhosis, Ja... OMIM:203700
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Seizure, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Small for gestational age, Diarrhea, Hyperaldosteronism, Vomiting, Constipat... OMIM:601678
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Hereditary Angioedema Type 1
Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea ORPHA:100050
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Facial palsy, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizu... OMIM:615873
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Chronic diarrhea, Rectal abscess OMIM:116920
Alg9-Cdg
Hepatomegaly, Diarrhea, Periportal fibrosis, Hypoplasia of the ovary, Gastroesophageal reflux, Vo... ORPHA:79328
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Intrahepatic cholestasis, Chronic diarrhea, Hepatitis, Chronic hepatitis, Vomiting,... OMIM:614921
Acute Liver Failure
Gastrointestinal hemorrhage, Diarrhea, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necr... ORPHA:90062
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Short stature, Hashimoto thyroiditis, High urinary gonadotropin ... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Short stature, Hashimoto thyroiditis, High urinary gonadotropin ... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Short stature, Hashimoto thyroiditis, High urinary gonadotropin ... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Short stature, Hashimoto thyroiditis, High urinary gonadotropin ... ORPHA:881
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Short Syndrome
Poor appetite, Weight loss ORPHA:3163
Dubowitz Syndrome
Hypoparathyroidism, Abnormality of neutrophils, Cryptorchidism, Thrombocytopenia, Chronic diarrhe... ORPHA:235
Cerebrotendinous Xanthomatosis
Cholelithiasis, Pseudobulbar paralysis, Diarrhea OMIM:213700
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Abnormality of humoral immunity, Difficulty... ORPHA:642
Bullous Pemphigoid
Weight loss ORPHA:703
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic diarrhea, Eosinophilia OMIM:158310
Chronic Graft Versus Host Disease
Pancytopenia, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Weight loss, Gastroesophageal reflu... ORPHA:99921
Ogden Syndrome
Cryptorchidism, Diarrhea, Jaundice, Microvesicular hepatic steatosis, Dysphagia, Feeding difficul... OMIM:300855
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Abdominal pain OMIM:106100
Reactive Arthritis
Abdominal pain, Diarrhea, Weight loss, Inflammation of the large intestine, Recurrent aphthous st... ORPHA:29207
Microvillus Inclusion Disease
Abdominal distention, Diarrhea ORPHA:2290
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Blau Syndrome
Splenomegaly, Xerostomia, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morp... ORPHA:90340
Granulomatosis With Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Weight ... ORPHA:900
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Micro Syndrome
Abnormality of visual evoked potentials, Cryptorchidism ORPHA:2510
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Poor coordination, Optic atrophy, Spastic diplegia, Seizure, Abnormal repetitive m... OMIM:309590
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Pseudobulbar paralysis OMIM:125310
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Optic atrophy, Increased circulating IgM level, Bone marrow hypocellularity, D... ORPHA:505248
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
Gaucher Disease Type 3
Generalized myoclonic seizure, Gait disturbance, Increased circulating antibody level, Ataxia ORPHA:77261
Arboleda-Tham Syndrome
Optic atrophy, Dysphagia, Seizure, Lower limb hypertonia, Gait imbalance, Dystonia, Abnormal repe... OMIM:616268
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
8P23.1 Microdeletion Syndrome
Cryptorchidism, Obesity, Weight loss ORPHA:251071
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea, Hyperhidrosis OMIM:614441
Diamond-Blackfan Anemia
Lethargy ORPHA:124
1P36 Deletion Syndrome
Hemiplegia/hemiparesis, Optic atrophy, Polyphagia, Seizure, EEG abnormality, Self-injurious behav... ORPHA:1606
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Seizure, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Chronic diarrhea, Enlarged tonsils, Hepatosplenomegaly, Increased size of nasophary... ORPHA:217085
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Abnormality... ORPHA:273
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Chronic diarrhea, Enlarged tonsils, Hepatosplenomegaly, Increased size of nasophary... ORPHA:217093
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Gastroesophageal reflux, Dysphagia, Decreased body weight ORPHA:258
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Diarrhea, Hyperaldosteronism, Vomiting, Constipation, Failure to thriv... OMIM:241200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials ORPHA:480898
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Constipation, Dysphagia ORPHA:93672
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia ORPHA:649
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Papilledema, Increased circulating antibody level ORPHA:91500
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Diarrhea, Colitis, Recurrent aphthous stomatitis, Abdominal pain OMIM:613960
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Glycogen Storage Disease Ia
Hepatomegaly, Protuberant abdomen, Hepatocellular carcinoma, Intermittent diarrhea, Pancreatitis OMIM:232200
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Exocrine pancreatic insufficiency, Biliary atresia,... ORPHA:2255
Oculocerebrorenal Syndrome Of Lowe
Clonus, Seizure, Self-injurious behavior, EEG abnormality, Attention deficit hyperactivity disord... ORPHA:534
Mednik Syndrome
Cirrhosis, Diarrhea, Hepatic fibrosis, Cholestasis OMIM:609313
Say-Barber-Miller Syndrome
Optic atrophy, Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, ... ORPHA:3132
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea OMIM:226730
Rheumatoid Arthritis
Weight loss OMIM:180300
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Diarrhea, Feeding difficulties, Recurrent pancreatitis, Vomiting, Dysp... OMIM:606721
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction, Dysphagia, Weight loss OMIM:607459
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Seizure, Self-in... OMIM:612474
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Brain abscess, Gastrointestinal hemorrhage, Hepatic arteriovenous malfo... ORPHA:2929
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Secretory diarrhea OMIM:270420
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Tethered cord, Seizure, Attention deficit hyperactivity disorder, D... OMIM:619522
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Spina bifida, Abnormal optic disc morphology, Abnormal repe... ORPHA:508498
Gaucher Disease
Ataxia, Bilateral tonic-clonic seizure, Depression, Increased circulating antibody level, General... ORPHA:355
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Cryptorchidism, Weight loss, Anemia, Leukopenia, Abno... ORPHA:84
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Failure to thrive in infancy, Gastroparesis, Feeding difficulties in infancy,... ORPHA:500150
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Impaired T cell function OMIM:192430
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss ORPHA:99885
Cocaine Intoxication
Abdominal pain, Bloody diarrhea, Hyperhidrosis, Gastrointestinal infarctions, Colitis, Vomiting, ... ORPHA:90068
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:210900
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:125
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Xerostomia, Gastrointestinal... ORPHA:95455
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level OMIM:619472
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea, Hyperhidrosis OMIM:167100
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Tics, Attention defi... OMIM:259050
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Difficulty walking OMIM:618653
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, Dysphagia,... ORPHA:2020
Aspartylglucosaminuria
Hepatomegaly, Diarrhea, Vacuolated lymphocytes, Neutropenia, Macroorchidism OMIM:208400
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Aganglionic megacolon, Impaired pain sensation, Focal-onset seizure, In... ORPHA:2152
Eisenmenger Syndrome
Lethargy ORPHA:97214
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Impaired T cell function, Vomiting OMIM:176690
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Zttk Syndrome
Absent gallbladder, Feeding difficulties in infancy, Chronic diarrhea, Feeding difficulties, Fail... OMIM:617140
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Parathyroid hypoplasia ORPHA:2237
Wolf-Hirschhorn Syndrome
Seizure, Tethered cord, Abnormal repetitive mannerisms, EEG abnormality OMIM:194190
Dermatomyositis
Feeding difficulties in infancy, Abnormal eosinophil morphology, Weight loss ORPHA:221
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Primary adrenal insufficiency, Testicular adrenal rest tumo... ORPHA:90794
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Aganglionic megacolon, Impaired pain sensation, Focal-onset seizure, Inability ... ORPHA:261537
Paroxysmal Nocturnal Hemoglobinuria
Lethargy ORPHA:447
Proximal Renal Tubular Acidosis
Diarrhea, Failure to thrive, Vomiting ORPHA:47159
Biliary, Renal, Neurologic, And Skeletal Syndrome
Bile duct proliferation, Anterior pituitary hypoplasia, Short stature, Diabetes insipidus OMIM:619534
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Aganglionic megacolon, Impaired pain sensation, Focal-onset seizure, Inability ... ORPHA:261552
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Coffin-Siris Syndrome 12
Seizure, Abnormal repetitive mannerisms, Facial palsy OMIM:619325
Sapho Syndrome
Inflammation of the large intestine, Chronic diarrhea, Steatorrhea, Abdominal pain ORPHA:793
Lowe Oculocerebrorenal Syndrome
Seizure, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Oculopharyngodistal Myopathy 1
Dysphagia, Weight loss OMIM:164310
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Testicular microlithiasis, Weight loss ORPHA:60025
Ectodermal Dysplasia-Skin Fragility Syndrome
Chronic diarrhea, Failure to thrive, Hypohidrosis ORPHA:158668
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux ORPHA:3164
Occipital Horn Syndrome
Chronic diarrhea OMIM:304150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia ORPHA:438213
Neonatal Inflammatory Skin And Bowel Disease
Recurrent gastroenteritis, Bloody diarrhea ORPHA:294023
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Goodpasture Syndrome
Anemia, Weight loss OMIM:233450
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337

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 Cacnb4

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 Cacnb4.

No publications found that use IMPC mice or data for Cacnb4.

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
Cacnb4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cacnb4tm27003(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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