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 |