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Gene: Dbnl MGI:700006

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Gene Summary

Name:
drebrin-like
Synonyms:
mAbp1,  SH3P7,  ABP1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Dbnltm1b(KOMP)Wtsi HOM   Early adult 5.69×10-07
increased heart weight Dbnltm1b(KOMP)Wtsi HOM Early adult 2.07×10-06
abnormal retina inner nuclear layer morphology Dbnltm1b(KOMP)Wtsi HOM   Early adult 4.70×10-05
decreased circulating triglyceride level Dbnltm1b(KOMP)Wtsi HOM   Early adult 6.10×10-05
decreased circulating alkaline phosphatase level Dbnltm1b(KOMP)Wtsi HOM Early adult 3.66×10-12
decreased circulating total protein level Dbnltm1b(KOMP)Wtsi HOM Early adult 1.24×10-07
increased fluid intake Dbnltm1b(KOMP)Wtsi HOM Early adult 1.23×10-06
decreased erythrocyte cell number Dbnltm1b(KOMP)Wtsi HOM Early adult 2.17×10-07
decreased circulating HDL cholesterol level Dbnltm1b(KOMP)Wtsi HOM Early adult 1.61×10-05
decreased total retina thickness Dbnltm1b(KOMP)Wtsi HOM Early adult 3.53×10-05
increased mean corpuscular volume Dbnltm1b(KOMP)Wtsi HOM Early adult 1.76×10-08
increased mean corpuscular hemoglobin Dbnltm1b(KOMP)Wtsi HOM Early adult 1.43×10-07
increased circulating glucose level Dbnltm1b(KOMP)Wtsi HOM Early adult 1.57×10-05
increased startle reflex Dbnltm1b(KOMP)Wtsi HOM Early adult 1.98×10-05
increased grip strength Dbnltm1b(KOMP)Wtsi HOM Early adult 6.35×10-05
persistence of hyaloid vascular system Dbnltm1b(KOMP)Wtsi HOM Early adult 4.70×10-10
abnormal optic disk morphology Dbnltm1b(KOMP)Wtsi HOM Early adult 2.08×10-06
decreased circulating serum albumin level Dbnltm1b(KOMP)Wtsi HOM Early adult 3.05×10-05
decreased locomotor activity Dbnltm1b(KOMP)Wtsi HOM Early adult 6.06×10-07
decreased hematocrit Dbnltm1b(KOMP)Wtsi HOM   Early adult 6.83×10-05
decreased circulating cholesterol level Dbnltm1b(KOMP)Wtsi HOM Early adult 2.76×10-06
abnormal retina vasculature morphology Dbnltm1b(KOMP)Wtsi HOM   Early adult 5.34×10-05
abnormal retina blood vessel morphology Dbnltm1b(KOMP)Wtsi HOM   Early adult 5.34×10-05
decreased hemoglobin content Dbnltm1b(KOMP)Wtsi HOM Early adult 1.63×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

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XRay Images Whole Body Dorso Ventral

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Human diseases caused by Dbnl mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... OMIM:614561
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... ORPHA:60033
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy OMIM:618987
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D... OMIM:300310
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance ORPHA:2274
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulatin... OMIM:300400
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... OMIM:618944
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia, Decreased circulating antibody level ORPHA:2572
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary ob... OMIM:613490
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... ORPHA:1041
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level OMIM:613500
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Ataxia, Decreased circulating I... OMIM:300861
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Dyspnea, Bronchiectasis, A... OMIM:612387
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia OMIM:617018
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myo... OMIM:606777
Immunodeficiency 62
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:618459
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Slender build, Bilateral tonic-clonic seizure OMIM:617709
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Acute Peripheral Arterial Occlusion
Myocardial infarction, Paralysis, Leukocytosis, Abnormal capillary physiology, Absent ankle pulse... ORPHA:90064
Porphyria, Acute Hepatic
Hemolytic anemia, Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive OMIM:612740
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Immunodeficiency 18
Defective T cell proliferation OMIM:615615
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level, Small for gestational age, Spastic paraplegia OMIM:300076
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Seizure, H... ORPHA:71277
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... OMIM:605021
Ceroid Lipofuscinosis, Neuronal, 9
Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod-cone dystrophy OMIM:609055
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... OMIM:267700
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE... OMIM:619824
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Dystonia, Cardiac arrest, S... ORPHA:77260
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:614018
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intenti... OMIM:610539
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607250
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... OMIM:162350
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebral palsy, Decreased circulating IgG level, Spasticity OMIM:618973
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:618969
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Cerebral palsy, Ataxia, Pericardial effusion, Hemiplegia/hemiparesis, Splenomegaly,... ORPHA:36412
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dysto... OMIM:614860
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Myocardial infarction, Paralysis, Congestive ... ORPHA:132
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... ORPHA:247585
Mogs-Cdg
Respiratory distress, Hepatomegaly, Alopecia, Hypoventilation, Apnea, Generalized edema, Edema, C... ORPHA:79330
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Immunodeficiency 15B
Agammaglobulinemia, Failure to thrive, Decreased lymphocyte proliferation in response to mitogen,... OMIM:615592
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased c... OMIM:603553
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia... OMIM:615924
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,... ORPHA:96180
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Cardiac arrest, Tremor, Seizure, Failure to thrive OMIM:618951
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... OMIM:619868
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure OMIM:617080
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Progressive gait ataxia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circ... ORPHA:98813
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Respiratory distress OMIM:619099
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity, Dysmetria, Ga... OMIM:618090
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Rabies
Cerebral palsy, Sudden cardiac death, Seizure, Paresthesia, Vocal cord paresis ORPHA:770
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, R... ORPHA:240103
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Sneddon Syndrome
Tremor, Decreased circulating total IgM, Hemiplegia OMIM:182410
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure OMIM:611092
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... OMIM:616689
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Spinocerebellar Ataxia, Autosomal Recessive 12
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a... OMIM:614322
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Ataxia, Elevated circulating creatine kinase concentrat... OMIM:208920
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly, Congestive heart failure, Seizure, Failure to thrive ORPHA:796
Lujo Hemorrhagic Fever
Shock, Resting tremor, Respiratory distress, Crackles, Facial edema, Atelectasis, Leukocytosis, F... ORPHA:319213
Ribose 5-Phosphate Isomerase Deficiency
Increased level of D-threitol in plasma, Optic atrophy, Ataxia, Elevated circulating ribitol conc... OMIM:608611
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
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
Spinocerebellar Ataxia 48
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dy... OMIM:618093
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Alg6-Cdg
Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Low-set ears, Rod-cone dystroph... ORPHA:79320
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity OMIM:278780
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus,... OMIM:616230
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... ORPHA:2590
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-... ORPHA:36387
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... OMIM:616981
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy, Hearing impairment OMIM:617717
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Focal impaired awareness seiz... ORPHA:382
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, EEG abnormality, Chorioretinal coloboma, Hearing impairment ORPHA:2732
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non... OMIM:607682
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... OMIM:617836
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Familial Dyskinesia And Facial Myokymia
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w... ORPHA:324588
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... OMIM:300423
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl... OMIM:619065
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Epileptic spasm, Seizure OMIM:619561
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... OMIM:617350
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... ORPHA:98810
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls OMIM:619647
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus, Dystonia ORPHA:139406
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a... ORPHA:45452
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:245570
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia ORPHA:2494
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance OMIM:616859
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia OMIM:269840
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Thrombocytosis, Edema, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari synd... OMIM:226300
Spastic Ataxia 7, Autosomal Dominant
Spastic ataxia, Dysdiadochokinesis, Optic atrophy OMIM:108650
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance, Optic atrophy OMIM:311100
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Continuous Spikes And Waves During Sleep
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s... ORPHA:725
Developmental And Epileptic Encephalopathy 59
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Focal... OMIM:617904
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia... OMIM:209950
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Sensorineural hearing impairmen... OMIM:614296
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Impaired pain sensation, Tremor, Hepatic bridging fibrosis, Splenomegaly, Limb atax... OMIM:616719
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Anemia, Leuko... ORPHA:507
Dengue Fever
Hepatomegaly, Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... OMIM:617665
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... OMIM:616050
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... OMIM:616959
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Seizure, Dystonia OMIM:612126
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Decreased circulating total IgM, Decreased circulating IgE, Decreas... OMIM:619510
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Developmental And Epileptic Encephalopathy 43
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence sei... OMIM:617113
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Ovarian Hyperstimulation Syndrome
Generalized edema, Enlarged polycystic ovaries, Hypovolemia, Capillary leak, Peripheral edema, Pl... ORPHA:64739
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... ORPHA:330050
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... OMIM:617389
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... OMIM:617241
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Senior-Loken Syndrome 4
Polydipsia, Rod-cone dystrophy, Anemia OMIM:606996
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:618805
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Edema, Action tremor, Gait ataxia, Normochromic anemia, Anasarca, Myoclonus, Ple... OMIM:254900
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Failure to thrive, Absent isohemagglutinin level OMIM:613501
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Weight lo... ORPHA:90362
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Dystonia, Splenomegaly, Dehydration, Choreoathetosis, Anemia,... ORPHA:79312
Spastic Paraplegia 43, Autosomal Recessive
Loss of ambulation, Optic atrophy, Gait disturbance OMIM:615043
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomyopathy OMIM:620270
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... ORPHA:93952
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Emphysema, Hepatitis, Jaundice ORPHA:60
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor OMIM:601068
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Bilateral tonic-clonic seizure, Lower limb spasticity OMIM:619639
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... OMIM:616860
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Synophrys, Unsteady gait, Seizure, Spa... OMIM:620317
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Unsteady gait, Bilateral tonic-clonic seizure, Truncal ataxia OMIM:608636
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... OMIM:300946
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... OMIM:616409
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Riddle Syndrome
Decreased circulating IgG level, Ataxia OMIM:611943
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Johanson-Blizzard Syndrome
Diabetes mellitus, Dextrocardia, Sensorineural hearing impairment, Abnormal cardiac septum morpho... ORPHA:2315
Cerebral Cavernous Malformations 3
Seizure, Cerebral hemorrhage, Paralysis OMIM:603285
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia, Pneumonia OMIM:254120
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity OMIM:613722
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
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... OMIM:606703
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia OMIM:619013
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Immunodeficiency, Common Variable, 11
Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo... OMIM:242700
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ... OMIM:301020
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Difficulty walking, Distal sensory impairment OMIM:613710
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... OMIM:226990
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr... ORPHA:26793
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Retinal dystrophy, Ataxia, Sensorineural hearing impairment, Elevated circulating p... OMIM:266510
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... OMIM:612561
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, Ataxia, EEG with generalized polyspikes OMIM:614706
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp... ORPHA:14
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
X-Linked Immunoneurologic Disorder
Hypertonia, Hemiplegia/hemiparesis, Decreased circulating IgG2 level ORPHA:2571
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thro... OMIM:613839
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Hearing impairment OMIM:165300
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... OMIM:300438
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Spasticity OMIM:607624
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema, Hypertrichosis OMIM:271225
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Paresthesia ORPHA:640
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epileptic... OMIM:617082
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Shuf... OMIM:615528
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... ORPHA:284324
Hypophosphatasia
Emphysema, Respiratory insufficiency, Failure to thrive in infancy, Anemia ORPHA:436
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... OMIM:619028
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Hypertonia, Dystonia, Failure to thrive, Hepatic steatosis ORPHA:26792
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... ORPHA:90117
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... ORPHA:477673
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Retinal dystrophy, Ventricular septal defect, Anorexia, Megaloblastic anemia, ... ORPHA:49827
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Focal dystonia, Gait... ORPHA:216873
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Retinal dystrophy, Thromboc... OMIM:617052
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Involuntary movements, Tongue fasciculations, Respiratory insufficiency ORPHA:238329
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, ... OMIM:256731
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cirrhosis, Portal hypertension OMIM:210050
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Decreased circulating antibody level, Decreased circulating total IgM, Reduced... ORPHA:331206
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Limb dystonia, Cra... ORPHA:71517
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia, Aggressive behavior, Hypsarrhythmia OMIM:608093
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dilated c... OMIM:300580
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Ataxia, Decreased circulating total IgM, Failure to thrive, Decr... OMIM:275350
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Abnormality of the liver, Status epile... OMIM:614307
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable respo... ORPHA:240085
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficienc... ORPHA:97214
Diarrhea 13
Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... ORPHA:2382
Immunodeficiency 46
Failure to thrive, Decreased circulating antibody level OMIM:616740
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Inability to walk, Optic atrophy, Enlarged kidney, ... OMIM:617303
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... ORPHA:95430
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Respiratory tract infection, Dyspnea, Facial edema, P... ORPHA:567546
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Hyp... ORPHA:2070
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Nipah Virus Disease
Respiratory distress, Tremor, Recurrent pharyngitis, Myoclonus, Hypotension, Cough ORPHA:99825
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus OMIM:617171
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, EEG with generalized epileptiform discharges, Gait ataxia, Inappropriate laughter,... OMIM:619323
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Paraplegia ORPHA:158014
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Dystonia, ... OMIM:610978
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Fail... OMIM:615758
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Pericarditis, Pericardial effusion, Optic atrophy, Chorioretinal ... OMIM:619487
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Hyperglycemia, Polydipsia, Rod-cone dystrophy, Polyphagi... OMIM:615986
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Seizure, Hypertoni... ORPHA:33445
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive OMIM:609056
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ataxia, Ventricular septal defe... OMIM:249270
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy ORPHA:71
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... OMIM:619752
Landau-Kleffner Syndrome
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic sei... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Tremor, Seizure, Frontal upsweep of hair, Spasticity OMIM:300983
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements... ORPHA:98805
Netherton Syndrome
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal h... ORPHA:634
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Hemiplegia, Increased circulating IgG level, Increased circulating IgE level, Decreased circulati... OMIM:243700
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Stomatocytosis, Increased mean cor... OMIM:185000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil... OMIM:615895
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:616100
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Increa... ORPHA:261250
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Dystonia, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Leth... ORPHA:289916
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... ORPHA:160
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Ataxia, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Chore... ORPHA:27
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Hellp Syndrome
Hemolytic anemia, Generalized edema, Decreased mean corpuscular hemoglobin concentration, Cerebra... ORPHA:244242
Immunodeficiency 64 With Lymphoproliferation
Failure to thrive, Increased circulating IgA level, Increased circulating IgG level, Increased ci... OMIM:618534
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Type II ... OMIM:520000
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Inability to walk,... OMIM:619389
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive OMIM:618201
Reni Syndrome
Hypertriglyceridemia, Ataxia, Hypoglycemia, Sensorineural hearing impairment, Hypoalbuminemia, Ly... OMIM:617575
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degenerati... OMIM:204200
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... ORPHA:158048
Fanconi Renotubular Syndrome 5
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentra... ORPHA:254886
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... OMIM:222100
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Difficulty walking, Distal sensory impairment OMIM:605285
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Spast... OMIM:619301
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular s... OMIM:608104
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired pain sensati... ORPHA:99947
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Immunodeficiency 109 With Lymphoproliferation
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near... OMIM:620282
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia OMIM:617830
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Syncope, Gait disturbance OMIM:603472
East Syndrome
Peripheral axonal neuropathy, Salt craving, Ataxia, Inability to walk, Sensorineural hearing impa... ORPHA:199343
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Myeloma, Multiple
Paraproteinemia OMIM:254500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning, Ataxia OMIM:618970
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Polymicrogyria ORPHA:171703
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... ORPHA:140927
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, EEG abnormality, Retinal deg... OMIM:256730
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Ataxia, Tremor, Pericardial effusion, Macrotia, Dysmetria, Cardiomyop... OMIM:212065
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia OMIM:617862
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Lymphadenopathy, N... ORPHA:142
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Lambert Syndrome
Failure to thrive in infancy, Decreased circulating antibody level ORPHA:1296
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, S... ORPHA:540
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Seizure, Brad... OMIM:261640
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Chorea, Clonic seizure, Focal-o... OMIM:618917
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Optic atrophy, Pigmentary retinopathy, EEG abnormality, Retinopathy OMIM:610951
Lichtenstein-Knorr Syndrome
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor OMIM:616291
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis OMIM:300857
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... ORPHA:521406
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Difficulty walking ORPHA:320360
Immunodeficiency 52
Failure to thrive, Decreased circulating antibody level OMIM:617514
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Highl... OMIM:617976
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwheel rigidity, ... OMIM:619725
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Premature graying of hair, Pulmonary fibrosis, Nail dystro... OMIM:620365
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... OMIM:308230
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Panhypogammaglobulinemia, Failure to thrive secondary to recurrent infections OMIM:601457
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Ataxia, Parkinsonism, Transient ischemic attack, Paralysis, Paraparesis, Hem... ORPHA:140989
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... OMIM:604484
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, ... OMIM:614487
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Hepatomegaly,... ORPHA:811
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... ORPHA:1215
Squalene Synthase Deficiency
Posteriorly rotated ears, Optic nerve hypoplasia, Bicuspid aortic valve, Increased circulating fa... OMIM:618156
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Decreased circulating antibody level ORPHA:85317
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia ORPHA:139485
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, EEG abnormality, Hypoch... OMIM:610883
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Acute Lung Injury
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D... ORPHA:178320
Infantile Cerebellar-Retinal Degeneration
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decreased body weight, Fa... OMIM:614559
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Throm... OMIM:619302
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Generalized edema, Long eyelashes, Hypoventilation OMIM:606056
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... ORPHA:263516
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Wolcott-Rallison Syndrome
Hyponatremia, Atrial septal defect, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, H... ORPHA:1667
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Dystonia, Hypercho... OMIM:616267
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Generalized myo... OMIM:231000
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin... ORPHA:79263
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Ga... ORPHA:363400
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia ORPHA:1171
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... ORPHA:1302
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... ORPHA:52368
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Hir... OMIM:610185
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... ORPHA:247598
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Failure to thrive, Increased circulating IgE level, Lack of T ce... ORPHA:277
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumoth... ORPHA:36238
Lissencephaly 3
Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Generalized tonic seizure OMIM:611603
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait OMIM:618387
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd... OMIM:614831
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait ... ORPHA:542310
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen... ORPHA:86909
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Rigidity, Tremor, Splenomegaly, Dystonia, Loss of ambulation, Thr... OMIM:615010
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Oligohydramnios OMIM:249210
Reticular Dysgenesis
Failure to thrive, Weight loss, Decreased circulating antibody level ORPHA:33355
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... ORPHA:538
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper... OMIM:617493
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... OMIM:616710
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Insulin-resistant diabetes mellitus, Optic ... ORPHA:401768
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
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
Usher Syndrome, Type Iiib
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, ... OMIM:614504
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha... OMIM:181000
Congenital Enterovirus Infection
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Hyperammonemia, ... ORPHA:292
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Severe temper tantrums, Hemidystonia, Optic atrophy, Bradykinesia, Spastic gait OMIM:619052
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress, Obesity OMIM:615993
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hypertensive crisis, Pneumonia, Edema, Respiratory tract infection, Myocarditis... ORPHA:544482
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... ORPHA:53351
Developmental And Epileptic Encephalopathy 23
Double eyebrow, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Synophrys, Low a... OMIM:615859
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Striatonigral Degeneration, Infantile
Choreoathetosis, Optic atrophy, Dysphagia, Dystonia OMIM:271930
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia... ORPHA:85443
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept... OMIM:613970
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Hypertension, Pulmonary hypoplasia, Left ventric... OMIM:616733
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... ORPHA:2298
Ataxia-Pancytopenia Syndrome
Ataxia, Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Hypoventilation, Failure to thrive, Ataxia, Paralysis, Microvesicular hepatic steat... OMIM:203700
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor OMIM:606438
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Edema, Angioedema, Intracranial hemorrh... ORPHA:449285
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Recurrent acute respirato... OMIM:620011
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level OMIM:617006
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Xq28 (MECP2) duplication
Gait ataxia, Failure to thrive, Progressive spasticity, Decreased circulating IgA level DECIPHER:45
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Vocal cord paralysis, Hand paresthesia OMIM:162500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Failure to thrive, Thick hair, Subretinal pigment epithelium hemorrhage, Spasticity, Coarse hair,... ORPHA:357074
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Atypical Rett Syndrome
Dystonia, Generalized myoclonic seizure, Involuntary movements, Infantile spasms, Impaired pain s... ORPHA:3095
Cln5 Disease
Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, Inability to walk, Fo... ORPHA:228360
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure t... ORPHA:91130
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Ataxia-Telangiectasia
Hypopigmentation of hair, Failure to thrive, Ataxia, Telangiectasia of the skin, Tremor, Prematur... ORPHA:100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... OMIM:619470
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Hearing impairment OMIM:618349
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypocalcemia, Low-set ears, Hypoproteinemia OMIM:235255
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Ataxia, Head titubation, Interstitial emphysema, Bronchiectasis, Dysmetria, Pulmonar... OMIM:619708
Sialidosis Type 2
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Dyspnea, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Kohlschutter-Tonz Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Spasticity OMIM:226750
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Chorioretinal hyperpigmentation, Sensorineural hearing impairment, Optic atrophy, H... OMIM:618329
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter OMIM:618347
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive OMIM:612075
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Decreased circulat... ORPHA:35078
Alg12-Cdg
Hyponatremia, Retinal detachment, Abnormal pinna morphology, Sensorineural hearing impairment, Mu... ORPHA:79324
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Myopathy And Diabetes Mellitus
Respiratory distress, Impaired vibratory sensation, Babinski sign, Progressive cerebellar ataxia,... ORPHA:2596
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineu... ORPHA:411590
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Congestive heart f... ORPHA:3077
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Dystonia, Failure t... OMIM:615512
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level OMIM:619846
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Failure to thrive, Decreased circulating IgG level, Decreased ci... OMIM:620040
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... ORPHA:64743
Familial Cervical Artery Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Paralysis, Recurrent cerebral hemorrhage, Hyp... ORPHA:36382
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrio... OMIM:115197
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... ORPHA:101071
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thrombocytopenia, Inability to walk, Optic atrophy, Enlarged... ORPHA:505248
Nephrotic Syndrome, Type 8
Edema, Generalized edema OMIM:615244
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Pa... ORPHA:98820
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... ORPHA:99745
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance ORPHA:3151
Fetal Akinesia Deformation Sequence 3
Generalized edema OMIM:618389
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Variegate Porphyria
Tachycardia, Paralysis OMIM:176200
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Abnormal pyramidal sign, Atheto... ORPHA:834
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Spasticity, Spastic paraplegia, Spastic tetraplegia OMIM:617977
O'Sullivan-Mcleod Syndrome
Tremor, Increased circulating antibody level, Fasciculations ORPHA:99965
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Seizure, Intracranial hemorrhage, Hypertension ORPHA:820
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Apparent Mineralocorticoid Excess
Hypertensive retinopathy, Hypokalemia, Abnormality of circulating cortisol level, Left ventricula... ORPHA:320
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Macrotia, Gait apraxia, Optic atroph... OMIM:617302
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Low a... OMIM:619616
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Clonus, Babinski sign, Dysmetria, Hypochromic microcytic anemia, Dysdiadoch... OMIM:301310
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... OMIM:612164
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Cystinosis
Hypokalemia, Gait disturbance, Type I diabetes mellitus, Hypophosphatemia, Retinopathy, Polydipsi... ORPHA:213
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Obes... ORPHA:464282
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Oromandibular Dystonia
Respiratory distress, Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic... ORPHA:93958
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Failure to thrive, Small for gestational age, Slender build, Portal hypertension, T... OMIM:613658
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Failure to thrive, Decreased ci... OMIM:618108
Maternal Uniparental Disomy Of Chromosome 1
Ataxia, Failure to thrive, Panhypogammaglobulinemia, Progressive spasticity ORPHA:251009
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Perry Syndrome
Central hypoventilation, Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor f... ORPHA:178509
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, ... OMIM:598500
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... OMIM:618877
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... OMIM:612562
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic paraparesis ORPHA:391417
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Horner Syndrome, Congenital
Paralysis OMIM:143000
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... OMIM:617519
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Low-set ... ORPHA:1655
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:436159
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Spastic dysarthr... ORPHA:313772
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Generalized dystonia, Bilateral tonic-clonic seizure, Cardiac arrest, Focal motor s... OMIM:618235
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Telangiectasia, Failure to thrive OMIM:608799
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Cinca Syndrome
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... OMIM:607115
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Seizure, Abnormality of the liver, Prolonged neonatal jaundice ORPHA:79234
Folinic Acid-Responsive Seizures
Respiratory distress, Ataxia, Apnea, Spastic tetraparesis, Chorea, Hypertonia, Dystonia ORPHA:79097
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral tonic-clonic seizure, Si... ORPHA:352582
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, M... OMIM:272750
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... ORPHA:208447
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, At... OMIM:615673
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hear... OMIM:222300
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Dextrocardia, ... OMIM:615994
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Choreoa... ORPHA:561854
Alg1-Cdg
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology ORPHA:79327
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... OMIM:117360
Central Diabetes Insipidus
Hyponatremia, Lethargy, Polydipsia, Anorexia ORPHA:178029
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Optic atrophy, Dysphagia, Pigmentary retinopathy, Bilateral sensorineural hearing i... OMIM:264470
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... ORPHA:137898
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Spinocerebellar Ataxia Type 10
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady gait, Babinski sign, F... ORPHA:98761
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon... ORPHA:363654
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory insuff... OMIM:614299
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Pneumothorax, Hypertonia, Hyperkinetic movements, Dystonia,... OMIM:619738
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Cardiomegaly, Optic atrophy, Hyperammonemia, Dysphagia, Choreoathetos... ORPHA:391428
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... OMIM:300853
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Sensorineural hearing impairment, Elevate... ORPHA:423479
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Spastic paraplegia, Low anterior hairline, Dysmetria, Gait ataxia... OMIM:615031
Spontaneous Periodic Hypothermia
Ataxia, Tremor, Seizure, Gait disturbance, Arrhythmia ORPHA:29822
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hypertonia, ... OMIM:617435
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... ORPHA:70588
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure, Tetraparesis, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy... OMIM:311070
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... ORPHA:91359
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Dystonia, Ataxia, Polyhydramnios, Tremor, Congestive heart failure, Recurre... OMIM:616271
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... ORPHA:529665
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... OMIM:619260
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Sei... ORPHA:70594
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia ORPHA:329249
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Small for gestational age, Decreased circulating total IgM, Fail... OMIM:607143
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Inability to walk, Sensorineural hearing impairment, Optic atrophy OMIM:618768
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Polydipsia, Retinal dystrophy, Anemia OMIM:266900
Wilson Disease
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... OMIM:277900
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Myoclonus, Difficulty walking, Tongue fasciculations, Generali... OMIM:159950
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hyperki... OMIM:271980
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Failure to thrive OMIM:619693
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga... OMIM:616795
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Unsteady gait, Limb tre... ORPHA:420492
L-2-Hydroxyglutaric Aciduria
L-2-hydroxyglutaric acidemia, Optic atrophy, Ataxia, Hearing impairment OMIM:236792
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Inability to walk, Optic atrophy, Hypsarrhythmia, Dysphagia OMIM:617086
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abno... ORPHA:102
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Dy... ORPHA:133
Combined Saposin Deficiency
Splenomegaly, Optic atrophy, Hepatomegaly OMIM:611721
Whipple Disease
Hyponatremia, Hepatomegaly, Pericarditis, Ataxia, Anorexia, Splenomegaly, Myocarditis, Insulin re... ORPHA:3452
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Mercury Poisoning
Respiratory distress, Tachycardia, Tremor, Dyspnea, Hypertension, Interstitial pneumonitis, Respi... ORPHA:330021
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Ataxia OMIM:618637
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Hepatomegaly, Respiratory insufficiency due to muscle... OMIM:613561
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss ORPHA:100024
Immunodeficiency 97 With Autoinflammation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619802
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Va... ORPHA:228346
Nocardiosis
Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, Pe... ORPHA:31204
Tetanus
Respiratory distress, Tachycardia, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertension, Hyper... ORPHA:3299
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... ORPHA:231222
Tangier Disease
Peripheral axonal neuropathy, Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Facial diplegia, ... ORPHA:31150
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Failure to thrive, Decreased circulating antibody level ORPHA:397596
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Failure to thrive, Polymicrogyria, Respiratory distress OMIM:616974
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Decreased circulating IgA level OMIM:215250
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Glutathionuria
Tremor, Asthma, Gray matter heterotopia, Dysdiadochokinesis, Action tremor OMIM:231950
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... ORPHA:157850
Hyperphenylalaninemia, Bh4-Deficient, B
Rigidity, Tremor, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... ORPHA:79126
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Increased circulating antibody level OMIM:615285
Cernunnos-Xlf Deficiency
Decreased circulating antibody level ORPHA:169079
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level OMIM:301045
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Dysphagia, Intention tremor OMIM:620221
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor... OMIM:618170
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Abnormal circulating... OMIM:615838
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Nephronophthisis 11
Anemia, Polydipsia, Retinal degeneration OMIM:613550
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Diaphragmat... ORPHA:99868
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Decre... OMIM:619632
Wolfram Syndrome
Diabetes mellitus, Ataxia, Sensorineural hearing impairment, Optic atrophy, Cardiomyopathy, Abnor... ORPHA:3463
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Decreased circulating antibody level OMIM:613101
Alpha-Heavy Chain Disease
Dysgammaglobulinemia ORPHA:100025
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hearin... ORPHA:858
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity, Optic atrophy, Coloboma OMIM:274270
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Frequent falls, Tremor, Slurred speech, Spastic diplegia, Tetraple... ORPHA:206443
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Congestive heart failure, Abnormal intrahepatic bile duct morph... ORPHA:363618
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Optic atrophy, Dysmetr... OMIM:617710
Leber Optic Atrophy And Dystonia
Optic atrophy, Dysphagia, Bradykinesia, Athetosis, Leber optic atrophy, Dystonia OMIM:500001
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilate... ORPHA:563
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Developmental And Epileptic Encephalopathy 47
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Focal-onset seizure, Li... OMIM:617166
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Seiz... ORPHA:442835
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Seizure, Failure to thrive, Limb hypertonia OMIM:617162
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Ataxia, Tremor, Intracranial hemorrhage, Hypertonia, Anasarc... ORPHA:86309
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibod... ORPHA:221139
Prune1-Related Neurological Syndrome
Elevated circulating creatine kinase concentration, Inability to walk, Optic atrophy, EEG abnorma... ORPHA:544469
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, H... OMIM:251880
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Merrf
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:551
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Hypouricemia, Ataxia, Abnormal erythrocyte enzyme leve... ORPHA:1187
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Impaired glucose tolerance, Insulin resistance, Fast... ORPHA:769
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leukocy... ORPHA:3392
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Inability ... OMIM:618012
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Failure to thrive OMIM:619556
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Spastic Paraplegia 5A, Autosomal Recessive
Postural tremor, Sensorineural hearing impairment, Optic atrophy, Abnormal circulating cholestero... OMIM:270800
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, Failure to thrive, Abnormal circulating IgM level, Increased cir... OMIM:618048
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Failure to thrive, Nonimmune hydrops fetalis, Portal hyperten... ORPHA:367
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Hypsarrhythmia OMIM:618856
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased specific antibody res... OMIM:614700
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Incoordina... ORPHA:209905
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus OMIM:607876
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Takotsubo cardiomyopathy, Bilateral tonic-clonic seizu... ORPHA:363549
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Choreoathetosis, Bilateral sensorineural heari... OMIM:619422
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Hypomagnesemia, Sensorineural hearing impairment, Hypokalemia, Hyperaldoste... OMIM:612780
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Congestive he... OMIM:212140
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Edema, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration... OMIM:619574
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic acid conce... OMIM:614877
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... OMIM:183090
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Ataxia, Tremor, Optic atrophy, Pigmentary reti... ORPHA:90321
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski si... OMIM:615157
Lethal Congenital Contracture Syndrome 7
Polyhydramnios, Paralysis OMIM:616286
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:618116
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Tremor OMIM:616269
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Dystonia, Ataxia, Sensorineural hearing impairment, Optic atrophy, ... OMIM:601338
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Broad-based gait, Sensory ataxia, Distal sensory impairment, Gait ataxia, Steppage gait, Difficul... OMIM:614895
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Raynau... ORPHA:227510
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abno... ORPHA:98933
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Abnormal pleura morphology, Nodular regenerative hyperplasia of liver, Dyspn... ORPHA:210136
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Meier-Gorlin Syndrome 4
Emphysema, Failure to thrive, Breast hypoplasia OMIM:613804
De Barsy Syndrome
Recurrent sinopulmonary infections, Athetosis, Progressive cerebellar ataxia, Sparse hair, Emphys... ORPHA:2962
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased serum pyruvate, Ataxia, Unsteady gait, Optic atrophy, Dystonia, Hyperalaninemia OMIM:245349
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema, Oligohydramnios, Supravalvular aortic stenosis OMIM:219100
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Ataxia, Optic atrophy, Adult onset sensorineural hearing impairment, Dysphagia, Sensory axonal ne... ORPHA:329314
Mpi-Cdg
Hepatomegaly, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Failure to thrive, Increased circulating IgE level, Decreased ... OMIM:102700
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Sarcoidosis
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Leukopeni... ORPHA:797
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dystonia, Loss of ambulation,... OMIM:607694
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure ORPHA:3124
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Right ventricular failure, Lymphedema, Chylous ascites, Intestinal ... ORPHA:90363
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Left ventricular hypertrophy, Prelingual sensorineural hearing impairment OMIM:618632
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron h... ORPHA:848
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Constrictive pericarditis, Anemia ORPHA:67
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea... ORPHA:169160
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Tremor, Chorea, Abnormal pyramidal sign, Dehydration, Choreoathetosi... ORPHA:2131
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis, Distal sensory impairment OMIM:616287
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anem... OMIM:611490
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Hepatomegaly, Abnormal EKG, Intercosta... ORPHA:1329
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory impairment, Hand tr... OMIM:302800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Athetosis, Hypokalemia, Hyperaldosteronism, D... ORPHA:369929
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis ORPHA:329284
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
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Ataxia, Spastic paraplegia, Dilated cardiomyopathy, Tetrapleg... ORPHA:254913
Holocarboxylase Synthetase Deficiency
Respiratory distress, Alopecia, Ataxia, Tachypnea, Weight loss, Thrombocytopenia ORPHA:79242
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure, Spastic tetraplegia, Intracranial hemorrhage... OMIM:614483
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... OMIM:607483
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,... OMIM:618183
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Liver Disease, Severe Congenital
Cardiomegaly, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Atria... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Tachycardia, Generalized-onset seizure, Tremor, Hypoesthesia, Obesi... OMIM:619737
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... ORPHA:289266
Riddle Syndrome
Ataxia, Weight loss, Clumsiness, Decreased circulating total IgM, Poor hand-eye coordination, Dec... ORPHA:420741
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... OMIM:127550
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
Sézary Syndrome
Hepatomegaly, Alopecia, Abnormal pleura morphology, Edema, Tremor, Splenomegaly, Lymphadenopathy,... ORPHA:3162
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, EEG abnormality, Dystonia,... ORPHA:457205
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation, ... OMIM:618241
Dilated Cardiomyopathy With Ataxia
Ataxia, Repetitive compulsive behavior, Muscular ventricular septal defect, Dilated cardiomyopath... ORPHA:66634
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction, Bilateral sensorineural hearing impairment, Progres... OMIM:124950
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia, Hearing impairment ORPHA:1186
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea OMIM:602579
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Dystonia, Hypera... OMIM:614702
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Weight loss, Periodic paralysis OMIM:613239
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... OMIM:617105
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Dyspnea, Bronchiectasis, Mitral regurgitation, Em... OMIM:123700
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Seizure, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of e... ORPHA:289494
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... ORPHA:1942
Xfe Progeroid Syndrome
Optic atrophy, Hypoalbuminemia, Hearing impairment, Attenuation of retinal blood vessels OMIM:610965
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Dilated cardiomyopathy, Dyspha... ORPHA:89842
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Perching Syndrome
Respiratory distress OMIM:617055
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... ORPHA:308552
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations, Oligohydr... ORPHA:1143
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, To... OMIM:619881
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Torticollis OMIM:614816
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:300972
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... OMIM:312080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency OMIM:260450
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... OMIM:204100
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Seizure, Hypertension, Myoclonus ORPHA:97229
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow, Oligohyd... ORPHA:261304
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Periorbital edema, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, ... OMIM:613177
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Rigidity, Abnormal p... ORPHA:199354
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia OMIM:239200
Leptospirosis
Papilledema, Hepatomegaly, Pericarditis, Anorexia, Retinal hemorrhage, Chorioretinitis, Hyperprot... ORPHA:509
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Thrombocytopenia OMIM:619751
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios, Hypertonia, Lissencephaly, Generalized hyp... ORPHA:50810
Craniofaciofrontodigital Syndrome
Respiratory distress, Edema, Cardiomegaly, Large for gestational age, Polyhydramnios, Low anterio... ORPHA:363705
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... OMIM:300755
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Dystonia, Facial palsy, Elevated circulating creatine kinase concentration, Sensorineural hearing... OMIM:258450
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s... OMIM:619428
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia OMIM:607765
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Polyphagia, Bradykinesia, Abno... ORPHA:399
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se... ORPHA:544254
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Generalized non-motor (a... OMIM:610293
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Ataxia, Paraplegia, Cerebral ischemia, Failure to thrive ORPHA:927
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Myocardial infarction, Tremor, Overweight, Seizure, Hyperkinetic ... ORPHA:457240
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... OMIM:616281
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali... ORPHA:254864
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... OMIM:619170
Porphyria, Acute Intermittent
Tachycardia, Paralysis, Seizure, Hypertension, Respiratory paralysis, Paresthesia, Hepatocellular... OMIM:176000
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Inability to walk, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia,... OMIM:614739
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Gait ataxia, Hepatosplenomegaly, Progressive cerebellar ataxia, Intention tremor ORPHA:466794
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Optic atrophy, Hyperammonemia, Dysphagia, Neutropenia, Loss of ambulation, Craniofa... OMIM:618253
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible pr... ORPHA:251274
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... OMIM:602481
Episodic Ataxia Type 1
Respiratory distress, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia ORPHA:37612
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... ORPHA:37042
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Failure to thrive, ... OMIM:600802
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Apneic episodes precipitated by illness, fatigue, stress, Chor... OMIM:312170
Hypokalemic Periodic Paralysis
Impaired myocardial contractility, Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Bilateral tonic-clonic seizure, Sparse e... OMIM:617988
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... ORPHA:230800
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia, Hearing impairment OMIM:617954
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly OMIM:613977
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level OMIM:616576
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Farber Disease
Respiratory distress, Failure to thrive, Intrahepatic cholestasis with episodic jaundice, Nodular... ORPHA:333
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly, Tricusp... OMIM:619534
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level OMIM:300635
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Diabetes mellitus, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiom... ORPHA:1177
Perry Syndrome
Hypoventilation, Parkinsonism, Central hypoventilation, Tremor, Rigidity, Respiratory insufficien... OMIM:168605
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Systolic heart murmur, Generalized edema OMIM:617478
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Weight loss, Palpitations, Periodic paralysis OMIM:188580
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Ort... ORPHA:75249
Leukoencephalopathy With Vanishing White Matter 2
Unsteady gait, Optic atrophy OMIM:620312
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Dystonia, Hepatomegaly, Anisocytosis,... OMIM:618278
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure, Congestive heart failure, Hemipar... OMIM:540000
Ring Chromosome 21 Syndrome
Spasticity, Decreased circulating antibody level ORPHA:1445
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Ataxia, Tremor, Slurred speech, Choreoathetos... OMIM:208900
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Impaired T cell function, Tremor, Spastic diplegia, Tetraparesis, Decreased lymphocyte pr... OMIM:613179
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Se... OMIM:242150
Spinocerebellar Ataxia Type 1
Postural tremor, Optic atrophy, Dysmetria, Dysphagia, Bradykinesia, Progressive cerebellar ataxia... ORPHA:98755
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
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
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... ORPHA:99931
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial hype... OMIM:619272
Infantile Refsum Disease
Hepatomegaly, Ataxia, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Elevated cir... ORPHA:772
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio... OMIM:613280
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil anti... ORPHA:525731
Succinic Acidemia
Respiratory distress OMIM:600335
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... ORPHA:464453
Malaria
Anemia, Respiratory distress, Thrombocytopenia ORPHA:673
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612301
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia OMIM:209920
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Cough, Mediastinal lymphadenopathy, Dyspnea, Anemia, Pre... OMIM:614742
Srd5A3-Cdg
Optic disc hypoplasia, Ataxia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dystrophy, He... ORPHA:324737
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Cough, Hilar lymph node enlargement, Hepatomegaly, Tricuspid regurgitation, Atelectasis... OMIM:620233
Leukoencephalopathy With Vanishing White Matter 4
Unsteady gait, Optic atrophy OMIM:620314
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Leber Congenital Amaurosis 14
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys... OMIM:617964
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertension, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure, Anemia ORPHA:1192
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase co... OMIM:610377
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Congestive heart failure, Pneumothorax, Recurrent pneumoni... ORPHA:90349
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... OMIM:311510
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Galloway-Mowat Syndrome 1
Ataxia, Optic atrophy, Hypoalbuminemia, Low-set ears, Dystonia, Macrotia OMIM:251300
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Tinnitus ORPHA:403
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased circulating antibody level, Gait ataxia, Abnormality of humora... ORPHA:572
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... ORPHA:280234
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia ORPHA:30925
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure,... ORPHA:480864
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Seizure, Truncal obesity, Hyperkine... OMIM:300957
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... ORPHA:36234
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait, ... OMIM:616505
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Sensorineural hearin... ORPHA:95513
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Dilated cardiomyopathy, Optic atrophy, Truncal ataxia, Pigmentary retinopathy, Left ventr... OMIM:252011
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Small for gestational age, Decr... OMIM:210900
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Mcleod Syndrome
Hepatomegaly, Generalized-onset seizure, Atrial fibrillation, Acanthocytosis, Splenomegaly, Chore... OMIM:300842
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Tremor, Increased body weight, Seizure, Pancreatic islet-cell hyperplasia ORPHA:276608
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis OMIM:300894
Spinocerebellar Ataxia 13
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria, Hearing i... OMIM:605259
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Small for gestational age, Emphysema, Simplified gyral pattern,... OMIM:616835
Cryoglobulinemia, Familial Mixed
Hypertension, Anasarca OMIM:123550
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Failure to thrive OMIM:618495
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, St... ORPHA:206594
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, Frontal balding, First degree atrioven... OMIM:160900
Rasmussen Subacute Encephalitis
Hemiparesis, Decreased circulating total IgA, Involuntary movements, Hemidystonia ORPHA:1929
Leukodystrophy, Hypomyelinating, 21
Athetosis, Optic atrophy, Ataxia, Dystonia OMIM:619310
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... ORPHA:100050
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi... OMIM:251900
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... OMIM:616586
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Nonketotic hype... ORPHA:401866
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Leukocytosis, Hypersensitivity pneumonitis, Hypereosinophilia, Nonproducti... ORPHA:2902
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... OMIM:617180
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Ventricular septal defect, Elevated circulating creatine kinase concentration, Peric... OMIM:618775
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia OMIM:619425
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Diabetes mellitus, Ataxia, Morning glory anomaly, Sensorineural hearing impair... ORPHA:98673
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Pericarditis, Hypoglycemia, Elevated circulating creatine kinase co... ORPHA:99826
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clon... ORPHA:206436
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... ORPHA:644
Trichohepatoenteric Syndrome 1
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Increased ... OMIM:222470
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... OMIM:619338
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy, Hypsarrhythmia OMIM:618776
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Pneumonia, Pericardial effusion, Thrombocytopen... ORPHA:781
Japanese Encephalitis
Respiratory distress, Irregular respiration, Neutrophilia, Weakness due to upper motor neuron dys... ORPHA:79139
Cystathioninuria
Tremor, Seizure ORPHA:212
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega... ORPHA:309155
Friedreich Ataxia
Decreased motor nerve conduction velocity, Diabetes mellitus, Hearing impairment, Inability to wa... ORPHA:95
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tremor, Tachypnea, Cough, Hyp... ORPHA:90068
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... ORPHA:3260
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Leukopenia, Cardiomyopath... OMIM:251000
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands, Hypertonia, Spas... ORPHA:544503
Caffey Disease
Increased circulating antibody level ORPHA:1310
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy,... ORPHA:216866
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Peripheral axonal neuropathy, Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Facial palsy, Optic atrophy, Hypocalcemia, Anemia, Hearing impairment ORPHA:53
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Hyp... OMIM:220110
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Methanol Poisoning
Hyperlipidemia, Abnormal optic nerve morphology, Type II diabetes mellitus, Addictive alcohol use... ORPHA:31825
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Maternal diabetes, Sensorineural hearing impairmen... ORPHA:3157
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hyperammonemia, De... OMIM:617093
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal... OMIM:609541
Osteopetrosis, Autosomal Recessive 9
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Ataxia, Dilated cardiomyopathy, Optic atrophy, Normochromic microcy... OMIM:610198
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissenceph... ORPHA:89844
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Seiz... OMIM:105210
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Elevated circu... ORPHA:247691
Arima Syndrome
Hepatomegaly, Ataxia, Retinal dystrophy, Optic atrophy, Chorioretinal coloboma, Polydipsia, Anemia OMIM:243910
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Failure to thrive, Decreased circulating IgA level OMIM:242860
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... OMIM:610743
Liver Failure, Infantile, Transient
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
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
Oligomeganephronia
Secundum atrial septal defect, Optic disc coloboma, Elevated circulating creatinine concentration... ORPHA:2260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymp... ORPHA:276
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,... ORPHA:95433
Immunodeficiency 56
Failure to thrive, Panhypogammaglobulinemia OMIM:615207
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obesity, Seizure, Hypert... OMIM:619854
Agammaglobulinemia 1, Autosomal Recessive
Agammaglobulinemia, Failure to thrive, Panhypogammaglobulinemia, Decreased circulating antibody l... OMIM:601495
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban... ORPHA:765
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Unsteady gait... ORPHA:1947
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough, Left ventricular hypertrophy ORPHA:86812
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:619767
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D... OMIM:271245
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Opisthotonus, Decreased ci... ORPHA:508533
Refsum Disease, Classic
Ataxia, Cardiomegaly, Sensorineural hearing impairment, Elevated circulating phytanic acid concen... OMIM:266500
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... ORPHA:99886
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Limb dystonia, Hypertrophic cardiomyopathy, I... OMIM:604377
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic disc pallor, Restlessness, Elevated circulating hexacosanoic acid concentration, Optic atro... OMIM:614388
Dubowitz Syndrome
Hyperactivity, Aplastic anemia, Protruding ear, Acute lymphoblastic leukemia, Low-set ears, Hypoc... OMIM:223370
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... ORPHA:199241
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Bilateral tonic-clon... OMIM:268800
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic disc pallor, Ataxia, Optic atrophy, Left ventricular hypertrophy, Lethargy, Hypertrophic ca... OMIM:618228
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, Heart murmur, ... ORPHA:284979
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Faci... OMIM:259700
Myoclonus, Intractable, Neonatal
Optic disc pallor, Athetosis, Impaired oral bolus formation, Dysphagia OMIM:617235
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ... ORPHA:791
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydipsia, Tinnitus, Decreas... ORPHA:231580
Aceruloplasminemia
Refractory anemia, Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, ... ORPHA:48818
Congenital Hydrocephalus
Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Abnormal heart morphol... ORPHA:2185
Krabbe Disease
Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality,... OMIM:245200
Immunodeficiency 12
Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to... OMIM:615468
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia OMIM:613672
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Premature graying of hair ORPHA:66633
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Crackles, Respiratory tract infection, Mediastinal lympha... ORPHA:79128
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Failure to thrive, Ataxia, Impaired T cell function OMIM:201100
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Generalized-onset seizure, Paralysis, Focal-onset seizure, Leukocytosis, Sta... ORPHA:83601
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level ORPHA:353298
Juvenile Polyposis Of Infancy
Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Low-set ears, Atrial septal defect... ORPHA:79076
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... OMIM:619652
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Opt... ORPHA:845
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevated circulating creati... OMIM:614298
Bloom Syndrome
Small for gestational age, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:125
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Splenomegaly, Joi... OMIM:612852
Non-Functioning Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... ORPHA:94080
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Optic disc pallor, Dysphagia, Dystonia OMIM:618230
Ellis Van Creveld Syndrome
Abnormal hair quantity, Abnormal hair morphology, Acute leukemia, Aplasia/Hypoplasia of the lungs... ORPHA:289
Amyotrophic Lateral Sclerosis
Paralysis, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory failure, Spas... ORPHA:803
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Hyperinsulinemia, Dysmetria, Protruding ear, Anemia, Vit... OMIM:620185
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Dysph... OMIM:614707
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper... OMIM:620028
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Per... OMIM:235510
Scrub Typhus
Tremor, Splenomegaly, Myocarditis, Dyspnea, Lymphadenopathy, Restrictive ventilatory defect, Hypo... ORPHA:83317
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Lymphedema, Biliary tract neoplasm, Yellow nails, Dy... ORPHA:662
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... OMIM:615474
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Congestive heart failure, Hypertonia, Gait distu... ORPHA:682
Hypoglossia With Situs Inversus
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia OMIM:612776
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Pancytopenia, Tremor, Dehydration, Anemia, Neutropenia, Failu... OMIM:251100
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam ce... OMIM:607625
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level OMIM:613677
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Chorioretinal coloboma, Iris... ORPHA:1473
Meier-Gorlin Syndrome 1
Respiratory distress, Small for gestational age, Long eyelashes, Emphysema, Failure to thrive, Br... OMIM:224690
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Optic atrophy, EEG abnormality, Gait disturbance, Retinal dysplasia ORPHA:272
Muscle-Eye-Brain Disease
EEG abnormality, Optic atrophy, Elevated circulating creatine kinase concentration, Gait disturbance ORPHA:588
Selective Igm Deficiency
Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina... ORPHA:331235
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Abnormal heart morphology, Pigmentary retinopathy,... ORPHA:79264
Congenital Myopathy 15
Reduced forced vital capacity, Tricuspid regurgitation, Vocal cord paralysis, Polyhydramnios OMIM:620161
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypog... OMIM:619055
Spastic Paraplegia 85, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Torticollis, Dysphagia OMIM:619686
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... ORPHA:447753
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure ORPHA:2759
Cach Syndrome
Optic atrophy, Nonketotic hyperglycinemia, Dysmetria, Hepatosplenomegaly, Limb ataxia, Dysphagia,... ORPHA:135
Leukodystrophy, Hypomyelinating, 15
Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Athetosis, Dystonia, Loss of ... OMIM:617951
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Typical absence seizure, Focal-onset s... ORPHA:168491
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Chorea, Opisthotonus, Status ep... OMIM:616672
3-Methylglutaconic Aciduria, Type I
Ataxia, Optic atrophy, Athetosis, Dystonia, Self-mutilation OMIM:250950
Macrocephaly/Autism Syndrome
Speech apraxia, Large for gestational age, Obesity, Decreased circulating antibody level OMIM:605309
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Ataxia, Head titubation, Optic atrophy, Dysmetria, Intention tremor OMIM:618688
Andersen-Tawil Syndrome
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... ORPHA:37553
Senior-Boichis Syndrome
Aggressive behavior, Hepatosplenomegaly, Agitation, Attention deficit hyperactivity disorder, Pol... ORPHA:84081
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, ... OMIM:274150
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Restrictive cardiomyopathy, Cardiomegaly, Cardiac ... ORPHA:85451
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Hypertrophic cardiomyopathy OMIM:612989
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Edema, Sple... ORPHA:90051
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Optic atrophy ORPHA:477814
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Weight loss, Increased circula... ORPHA:449400
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegaly, Retinal p... OMIM:219800
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Abnormal pinna morphology, Ventricular septal defect, Low-set ears, Hypocholes... OMIM:244450
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Glycosuria, Hypophosphatem... ORPHA:411629
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level OMIM:615122
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... OMIM:608804
Glossopharyngeal Neuralgia
Dysesthesia, Vocal cord paralysis, Jaw claudication, Weight loss, Seizure, Syncope, Bradycardia ORPHA:221098
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Hypertonia, Syncope, Myoclonus OMIM:614618
Alg8-Cdg
Hyponatremia, Ataxia, Optic atrophy, Anemia, Low-set ears, Retinopathy, Thrombocytopenia ORPHA:79325
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Gait ataxia, Facial hirsuti... OMIM:619383
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali... ORPHA:501
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... OMIM:617101
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Hereditary Folate Malabsorption
Failure to thrive, Decreased circulating antibody level ORPHA:90045
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, Spasticity, Seizure OMIM:618718
Glioblastoma
Seizure, Paralysis ORPHA:360
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Incre... OMIM:606002
Lissencephaly 8
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Ataxia, Hypercapnia, Tremor, Reduced forced... OMIM:164310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... OMIM:253800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased circulating antibody level OMIM:617780
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Optic atrophy, Dysphagia, Gait ataxia, Choreoathetosis, Gait disturbance, Dystonia, Loss ... ORPHA:225154
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Pneumonia, Right ve... ORPHA:97287
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Tremor, Optic atrophy, Phonic tics, ... OMIM:234200
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor ORPHA:97285
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... ORPHA:3261
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level OMIM:616005
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Optic atrophy, EEG abnormality, Fasting hypogl... OMIM:261680
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Canavan Disease
Optic atrophy, Multifocal epileptiform discharges, Increased circulating N-acetylaspartic acid co... OMIM:271900
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Hyperurice... ORPHA:134
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Spastic Paraplegia 7, Autosomal Recessive
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... OMIM:607259
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Bilateral sensorin... ORPHA:436271
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Optic atrophy, Coloboma, Low-set ears, Dysphagia OMIM:612379
Gitelman Syndrome
Salt craving, Maternal diabetes, Pericardial effusion, Insulin resistance, Hypermagnesemia, Iron ... ORPHA:358
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Familial Cold Urticaria
Sensorineural hearing impairment, Polydipsia ORPHA:47045
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Polyhydramnios, Low anterio... ORPHA:329178
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... ORPHA:169154
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Pr... ORPHA:504476
Niemann-Pick Disease, Type C1
Hepatomegaly, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia,... OMIM:257220
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Dys... OMIM:612674
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... OMIM:618056
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... ORPHA:275872
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... OMIM:617156
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... OMIM:619374
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Addictive alcohol use, Left ventricular hypertrophy, Hypercholesterolemia, Hypergly... ORPHA:90065
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Hypopi... OMIM:214500
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... OMIM:609033
Griscelli Syndrome
Spasticity, Ataxia, Bone marrow hypocellularity, Decreased circulating antibody level ORPHA:381
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Ataxia, Apnea, Cardiac conduction abnormality, Dyspnea, Chorea, Dilated cardiomyopa... ORPHA:255210
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Stt3B-Cdg
Respiratory distress, Failure to thrive, Thrombocytopenia ORPHA:370924
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Optic atrophy, Dysphagia, Gait disturbance, Limb ... ORPHA:508093
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Choreoathetosis, Seizure, Dystonia, Spasticity OMIM:617664
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Hepatomegaly, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ... ORPHA:369840
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Hearing impairment ORPHA:2801
Juvenile Sialidosis Type 2
Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Abnormal heart morphology, Lo... ORPHA:93399
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Frequent falls, Ataxia OMIM:620166
Immunodeficiency 23
Ataxia, Increased circulating IgE level, Increased circulating IgG level, Increased circulating I... OMIM:615816
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Hypoglycemia, Megaloblastic ... ORPHA:79282
Cerebrotendinous Xanthomatosis
Optic disc pallor, Resting tremor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy,... ORPHA:909
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Oral-pharyngeal dysphag... OMIM:616878
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Gm1 Gangliosidosis
Generalized dystonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Sple... ORPHA:354
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Ataxia, Apnea, Spasticity, Hypopnea, Hyperto... OMIM:618426
Pseudohypoaldosteronism Type 2
Hypertension, Periodic paralysis ORPHA:757
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Myoclonus, Asp... ORPHA:314655
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Hepatomegaly, Abnormal EKG, Abnormal central mo... ORPHA:3385
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... OMIM:259710
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Thrombocytopenia OMIM:615597
Aortic Arch Interruption
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Sialidosis Type 1
Ataxia, Tremor, Splenomegaly, Slurred speech, Seizure, Gait disturbance, Myoclonus ORPHA:812
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Abnormal heart morphology, Abnormal glucose homeostasis, Neutropenia,... ORPHA:391673
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... OMIM:300607
Ddost-Cdg
Tremor, Oromotor apraxia, Seizure, Failure to thrive, Hepatic steatosis ORPHA:300536
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Hand tremor, Dysphagia, Bradykinesia, Gait disturbance, Shuffling gait, Dystonia, ... ORPHA:289560
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hearing impairment ORPHA:65
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy... OMIM:618249
Johanson-Blizzard Syndrome
Hepatomegaly, Sparse scalp hair, Fair hair, Failure to thrive, Small for gestational age, Portal ... OMIM:243800
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Failure to thrive in infancy, Increased circulating IgA level OMIM:617099
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Elevated circulating creatine kinase concentration, Bulimia, Anterior creases ... ORPHA:314389
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Paraparesis, Paraplegia, Abnormal circulating interferon-gamma conc... ORPHA:79124
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Gitelman Syndrome
Prolonged QT interval, Ataxia, Paralysis, Ventricular tachycardia, Seizure, Paresthesia, Palpitat... OMIM:263800
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... ORPHA:329308
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... ORPHA:99027
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Optic atrophy, Dysphagia, Blepharospasm, Pigmentary retinopathy, Athet... OMIM:617282
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia OMIM:616204
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... ORPHA:31826
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Titubation... ORPHA:98768
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Autosomal Agammaglobulinemia
Agammaglobulinemia, Failure to thrive ORPHA:33110
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We... ORPHA:71493
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Obesity, Decreased circulating IgA level ORPHA:369837
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Lethargy ORPHA:2089
Joubert Syndrome 28
Optic disc pallor, Ataxia, Pigmentary retinopathy OMIM:617121
Autoimmune Lymphoproliferative Syndrome, Type Iii
Reduced natural killer cell activity, Absent isohemagglutinin level, Increased circulating antibo... OMIM:615559
Arts Syndrome
Optic atrophy, Dysphagia, Ataxia, Hearing impairment OMIM:301835
Poliomyelitis
Respiratory failure requiring assisted ventilation, Paralysis, Paraparesis, Hypertension, Hypovol... ORPHA:2912
Erdheim-Chester Disease
Ataxia, Abnormal pericardium morphology, Xanthelasma, Abnormal aortic valve morphology, Polydipsi... ORPHA:35687
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, G... ORPHA:35069
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Failure ... ORPHA:2929
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Spasticity, Increased circulating IgG level, Defective T cell pr... OMIM:618213
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Hypertension OMIM:145260
Nephronophthisis 4
Polydipsia, Anemia OMIM:606966
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal... OMIM:614947
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Tremor, Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, Dysd... ORPHA:502423
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Clonus, Left ventricular noncompaction cardiomyopathy, Tremor, Cardiogenic shock, D... OMIM:619424
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... ORPHA:363429
Netherton Syndrome
Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Decreased circulating antibody level OMIM:619750
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Bradycardia, Pulmonary artery aneurysm, Pulmonary artery dilatation, Pulmonary insuffi... OMIM:614437
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Tremor, Sparse eyebrow, Seizure, Failure to thrive, Decreased body mass index, ... ORPHA:370079
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce... OMIM:614576
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Inhalational Anthrax
Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage ORPHA:247257
Insulinoma
Tremor, Abnormality of the pancreatic islet cells, Increased body weight, Seizure, Paresthesia, P... ORPHA:97279
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Neu-Laxova Syndrome 1
Polyhydramnios, Absent eyelashes, Lissencephaly, Pulmonary hypoplasia, Generalized edema OMIM:256520
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Orotic Aciduria
Failure to thrive, Impaired T cell function OMIM:258900
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Ataxia, Tremor, Hematochezia, Seizure, Cholestatic liver disease, Cholelith... ORPHA:79095
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Tremor, Dysmetria, Hypersegmentation of neutrophil nuclei, Oligohydramnios OMIM:615578
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Elevated transferrin saturation, Inc... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Microvesicular hepatic steatosis, Stridor, Macrovesicular hep... OMIM:615595
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... OMIM:619381
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Decreased lymphocyte proliferation in response to anti-CD3, Increas... OMIM:606367
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Dend Syndrome
Hyperglycemia, Thickened ears, Elevated hemoglobin A1c, Hypsarrhythmia ORPHA:79134
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Tremor, Seizure, Hypertrophic cardiomyopathy, Status epilepticus, Myoclonus... OMIM:607426
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven... ORPHA:99095
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chorea, Subdural h... ORPHA:25
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Abnormal liver lo... OMIM:608022
X-Linked Agammaglobulinemia
Agammaglobulinemia, Failure to thrive, Weight loss ORPHA:47
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:613011
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Tongue fasciculations, Respiratory insufficiency ORPHA:1145
Nephronophthisis 1
Polydipsia, Anemia OMIM:256100
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacunae, Optic at... OMIM:152950
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Hepatomegaly, Failure to thrive, Dystonia, Ataxia, Pain insensitivity, Hepa... OMIM:256810
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Megaloblastic anemia, Abnormality of hair textur... ORPHA:79351
Colchicine Poisoning
Respiratory distress, Alopecia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia,... ORPHA:31824
Smith-Kingsmore Syndrome
Large for gestational age, Decreased circulating IgA level OMIM:616638
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Hyperactivity, Aganglionic megacolon, Posteriorly rotated ears, Ventricular septal ... OMIM:270400
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ... OMIM:620306
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia ORPHA:79254
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Tremor, Abnormal lung morphology, Chorea, Abnormal pyramid... ORPHA:646
Listeriosis
Respiratory distress, Pericarditis, Liver abscess, Ataxia, Pneumonia, Somatic sensory dysfunction... ORPHA:533
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, O... ORPHA:370959
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Small for gestational age, Failure to thr... ORPHA:1199
Myopathy, Mitochondrial, And Ataxia
Ataxia, Thick hair, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment,... OMIM:617675
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Abnormal pinna morphology, Optic nerve hypoplasia, Hypoglycemia, Secundum atri... OMIM:609069
Keutel Syndrome
Sinusitis, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Em... OMIM:245150
Inhalational Botulism
Dyspnea, Xerostomia, Paralysis ORPHA:254504
Leber Optic Atrophy
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... OMIM:535000
Birk-Landau-Perez Syndrome
Dystonia, Hyperkalemia, Optic atrophy, Limb ataxia, Choreoathetosis, Difficulty walking, Increase... OMIM:617595
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegaly, Micronodular cirrhosis, Jaun... ORPHA:309854
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Postural tremor, Optic atrophy, Dysmetria, Dysphagia, Autonomic bladder dysfunction, Dyst... ORPHA:447896
Pseudo-Torch Syndrome 3
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... OMIM:618886
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Transient ischemic attack, Cardiomegaly, Respirato... ORPHA:365
Cockayne Syndrome A
Hepatomegaly, Retinal atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked ... OMIM:216400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Curly hair, Unilateral lung agenesis, Transient ischemic attack, Failure to t... ORPHA:500150
Marfan Syndrome
Spontaneous pneumothorax, Cachexia, Congestive heart failure, Emphysema, Pulmonary artery dilatat... ORPHA:558
X-Linked Intellectual Disability, Najm Type
Optic nerve hypoplasia, Sensorineural hearing impairment, Optic atrophy, Gait disturbance, Chorio... ORPHA:163937
Meningococcal Meningitis
Papilledema, Anorexia, Elevated circulating C-reactive protein concentration, Lethargy, Hearing i... ORPHA:33475
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Obesity, Tetraplegia, Weight los... ORPHA:79102
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Dystonia, Optic atrophy, EEG abnormality, Progressive cerebellar ataxia, Dysphagia OMIM:618868
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Ataxia, El... ORPHA:3008
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Leukocytosis, Hypotens... ORPHA:340
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized n... ORPHA:395
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Hepatomegaly, Dystonia, Ataxia, Tremor, Inability to walk, Chorea,... OMIM:615356
Thymoma
Weight loss, Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Decreased circula... ORPHA:99867
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment, EEG abnormality ORPHA:141
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Thick eyebrow, Ataxia, Generalized clonic seizure, Tremor, Inability to wa... OMIM:619229
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Failure to th... OMIM:251110
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Ataxia, Retinal telangiectasia, Tremor, Thrombocytopenia, Abnormal pyramidal sign, Fine... OMIM:612199
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly, Optic atrophy, Progressive sensorineural hearing impairment, Anemia ORPHA:575
Joubert Syndrome
Ataxia, Apnea, Highly arched eyebrow, Episodic tachypnea, Tremor, Abnormality of neuronal migrati... ORPHA:475
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Leigh Syndrome
Ataxia, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Dystonia OMIM:256000
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Polyhydramnios OMIM:300219
Moebius Syndrome
Respiratory distress, Dysdiadochokinesis, Poor coordination, Clumsiness OMIM:157900
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P... ORPHA:3309
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Orthostatic hypotension, Abnormal circulating lipid concentration,... ORPHA:186
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Toxic Epidermal Necrolysis
Neutropenia, Anemia, Dysphagia, Abnormal myocardium morphology, Polydipsia, Thrombocytopenia ORPHA:537
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620005
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Spleno... OMIM:615688
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... ORPHA:185
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... OMIM:617854
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne... ORPHA:348
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Facial palsy, Thromb... OMIM:259720
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Broad-based gait, Pancytopenia, Bilateral tonic-clonic seizure ... ORPHA:2072
Neuronal Intranuclear Inclusion Disease
EEG abnormality, Optic atrophy, Ataxia ORPHA:2289
Amish Nemaline Myopathy
Tremor, Respiratory insufficiency due to muscle weakness ORPHA:98902
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Slurred speech, Progressive cerebellar ataxia, Sparse hair, E... ORPHA:2834
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia, Secundum atrial septal defect, Optic atrophy, Low-set ears OMIM:608688
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hypopigmentation of hair, Ataxia, Tremor, Obesity, Seizure, Gait imbalance, Myo... ORPHA:98794
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Obesity ORPHA:66628
Madras Motor Neuron Disease
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Tinnitus ORPHA:137867
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Decreased circulating IgA level ORPHA:457485
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Gait disturbance,... ORPHA:2971
Cerebrotendinous Xanthomatosis
Optic disc pallor, Ataxia, Xanthelasma, Abnormal circulating cholesterol concentration, Pseudobul... OMIM:213700
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Small for gestational age, Inabili... OMIM:617799
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Sensorineural hearing impairment, Hyperkalemia... ORPHA:293987
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Failure to thrive, Increased circulating IgA level OMIM:617388
Primary Sclerosing Cholangitis
Hepatomegaly, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, ... ORPHA:171
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Low-set ears OMIM:617729
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Walker-Warburg Syndrome
Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Posteriorly rotated ears, Optic a... ORPHA:899
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Apnea, Choreoathetosis, Hyp... ORPHA:17
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia OMIM:304800
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Pain insensitivity, Involun... OMIM:615273
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Emphysema, Pneumothorax,... OMIM:154700
Autosomal Dominant Progressive External Ophthalmoplegia
Edema, Tremor, Gait ataxia, Abnormality of the liver, Hypertonia, Ataxia, Dilated cardiomyopathy,... ORPHA:254892
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Sensorineural hea... ORPHA:101076
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Obesity ORPHA:179494
Distal Renal Tubular Acidosis
Hemolytic anemia, Sensorineural hearing impairment, Hypokalemia, Polydipsia, Enlarged vestibular ... ORPHA:18
Scorpion Envenomation
Bundle branch block, Edema, Tremor, Tachypnea, Prominent U wave, Hemifacial spasm, Ataxia, Myoclo... ORPHA:466677
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Bronchiectasis, Mitral regurgitation, Bronchiolit... ORPHA:90348
Biotinidase Deficiency
Hepatomegaly, Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Hyperammonem... OMIM:253260
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor, Respiratory insufficiency OMIM:605355
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia OMIM:618233
Isolated Complex I Deficiency
Increased serum pyruvate, Optic disc pallor, Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemi... ORPHA:2609
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysmetria, Limb atax... OMIM:164400
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Ataxia, Apnea, Portal hypertension, Highly arched eyebrow, Tremor, Congenital hepat... ORPHA:1454
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Failure to thri... OMIM:618131
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Small for gestational age, Tremor, Oligohydramnios, Respiratory insufficiency, Hypertensi... OMIM:614052
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Icf Syndrome
Decreased circulating antibody level ORPHA:2268
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... ORPHA:261
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Decreased circulating antibody level OMIM:615952
Coenzyme Q10 Deficiency, Primary, 2
Bulimia, Optic atrophy, Hearing impairment OMIM:614651
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... ORPHA:98853
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Abnormal T ce... ORPHA:330015
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... ORPHA:1934
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Hydrops fetalis... ORPHA:79329
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetraparesis, Cerebral edema OMIM:617186
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Absent eyebrow, Dyspnea, Respiratory failure, Thin eyebrow, Failure to thrive ORPHA:2707
Leigh Syndrome
Dystonia, Ataxia, Ventricular septal defect, Hypoglycemia, Sensorineural hearing impairment, Opti... ORPHA:506
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Kenny-Caffey Syndrome, Type 2
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia, ... OMIM:127000
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Microcytic anemia, Congenital sensorineural hearing im... ORPHA:293967
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Polyhydramnios, Intermittent epi... ORPHA:98914
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Polyhydramnios, Intermittent epi... ORPHA:590
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Mannosidosis, Alpha B, Lysosomal
Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Decreased circulating antibody ... OMIM:248500
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... ORPHA:309246
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Abno... ORPHA:93400
Say-Barber-Miller Syndrome
Impaired neutrophil chemotaxis, Babinski sign, Transient hypogammaglobulinemia of infancy, Decrea... ORPHA:3132
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Rift Valley Fever
Paralysis, Paraparesis, Hemiparesis, Increased circulating IgG level, Increased circulating IgM l... ORPHA:319251
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,... ORPHA:268940
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Cockayne Syndrome B
Hepatomegaly, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Abnor... OMIM:133540
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment, Optic atrophy, Self... ORPHA:847
Friedreich Ataxia
Diabetes mellitus, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Hypertrophic cardiomyopathy, ... OMIM:229300
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Optic atrophy, Gait ataxia OMIM:618800
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor ORPHA:713
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tricuspid regurg... OMIM:620066
Wars2-Related Combined Oxidative Phosphorylation Defect
Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Seizure, Cardiomy... ORPHA:572798
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:1173
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Voca... ORPHA:98863
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part... OMIM:618986
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Ataxia, Decreased circulating antibody level, Failure to thrive,... OMIM:617062
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Anemia, Opisthotonus OMIM:184850
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt... OMIM:268315
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Mixed hearing impairment, Ataxia, Hepatosplenomegaly ORPHA:309288
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paralysis OMIM:612300
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Interictal epileptiform activity, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Cardiomyopathy... OMIM:620089
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Synophrys, Ascites... OMIM:620369
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Cardiomyopathy, Gai... OMIM:619259
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive, Ataxia, Decreased circulating IgA level OMIM:212750
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Respiratory distress, Neonatal respiratory di... OMIM:260400
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, ... OMIM:231680
Joubert Syndrome With Renal Defect
Ataxia, Apnea, Highly arched eyebrow, Tremor, Oculomotor apraxia, Polymicrogyria, Abnormal patter... ORPHA:220497
Encephalitis Lethargica
Tremor, Increased circulating antibody level, Parkinsonism ORPHA:83600
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Macrotia, EEG with gener... OMIM:617864
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Diabetes mellitus, Abnormal erythrocyte enzyme leve... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu... OMIM:610505
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis OMIM:302802
Lassa Fever
Increased circulating IgM level ORPHA:99824
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Gait disturbance, Sea-blue histiocytosis, Dysp... OMIM:230600
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy, Hypoplastic optic chiasm, Hypsarrhythmia, Dysphagia, Dystonia, Hearing impairment OMIM:617669
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Seizure, Vocal cord paralysis ORPHA:397744
Angelman Syndrome
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... ORPHA:72
Congenital Tracheal Stenosis
Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung morphology,... ORPHA:141127
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Dyspnea, Babinski sign, Hypertrophic cardiomyopathy, Exertional ... OMIM:616539
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Tremor, Increased body weight, Seizure, Pan... ORPHA:263455
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Sensorineural hearing impairment... ORPHA:585
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Paralysis... ORPHA:297
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Tar... OMIM:603903
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastina... ORPHA:1546
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Mpdu1-Cdg
Optic atrophy, Elevated circulating creatine kinase concentration, Hypsarrhythmia ORPHA:79323
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr... ORPHA:2785
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic... ORPHA:98791
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... ORPHA:447788
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, S... ORPHA:2203
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... ORPHA:57777
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Ataxia, Decreased circulating antibody level OMIM:616084
Viss Syndrome
Sparse scalp hair, Epidural hemorrhage, Alopecia, Polyhydramnios, Dyspnea, Asthma, Pneumothorax, ... OMIM:619472
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia ORPHA:683
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... ORPHA:276621
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Small for gestational age, Tremor, Abnormality of the pancreas, Ja... ORPHA:69665
Serotonin Syndrome
Tachycardia, Clonus, Tremor, Rigidity, Tachypnea, Hypertension, Hypertonia, Myoclonus, Hypotension ORPHA:43116
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Vocal cord paralysis OMIM:615490
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Impaired T cell function, Abnormal lymphocyte physiology, Hemiparesis,... ORPHA:1830
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Ataxia OMIM:618248
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Metachromatic Leukodystrophy
Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Seizure, Ti... ORPHA:512
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Pmm2-Cdg
Respiratory distress, Pericarditis, Abnormality of coordination, Ataxia, Angina pectoris, Lymphed... ORPHA:79318
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Dysgyria, Limb hypertonia OMIM:620327
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Laryngeal Abductor Paralysis
Stridor, Vocal cord paralysis OMIM:150260
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Sparse eyebrow, Low posterior hairline, Granulocytopenia OMIM:606164
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Biotinidase Deficiency
Respiratory distress, Alopecia, Ataxia, Apnea, Spastic paraparesis, Hyperventilation ORPHA:79241
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Small for gestational age, Decreased circulating antibody level OMIM:242900
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Ochoa Syndrome
Polydipsia ORPHA:2704
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Melas
Peripheral axonal neuropathy, Diabetes mellitus, Ataxia, Sensorineural hearing impairment, Dilate... ORPHA:550
Stankiewicz-Isidor Syndrome
Hyperactivity, Ventricular septal defect, Abnormal optic disc morphology, Low-set ears, Truncus a... OMIM:617516
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant di... OMIM:151660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase co... OMIM:613154
Pachyonychia Congenita
Respiratory distress, Alopecia, Failure to thrive, Nail dystrophy ORPHA:2309
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Optic disc pallor, Ataxia, Dilated cardiomyopathy, Left ventricular noncompaction, ... OMIM:619167
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Splenomegaly, Inability to walk, Optic ... ORPHA:404454
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... ORPHA:3342
Encephalocraniocutaneous Lipomatosis
Alopecia, Paralysis, Rigidity, Abnormal eyelash morphology, Tetraplegia, Hemiparesis, Seizure, Hy... ORPHA:2396
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Decreased circulating IgA level OMIM:613385
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysphagia, Dysdi... OMIM:610217
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Polydipsia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile a... ORPHA:731
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Peroxisome Biogenesis Disorder 5A (Zellweger)
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Spl... OMIM:614866
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Elevated circulating creatine kinase concentration, Optic atrophy, Dysphagia, Dystonia, M... ORPHA:496641
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Failure to thrive ORPHA:83617
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Hyp... OMIM:602522
Joubert Syndrome With Ocular Defect
Ataxia, Apnea, Highly arched eyebrow, Tremor, Oculomotor apraxia, Polymicrogyria, Abnormal patter... ORPHA:220493
Alexander Disease
Ataxia, Clonus, Sudden cardiac death, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Seizu... ORPHA:58
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia OMIM:617281
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Apnea, Clonus, Tremor, Jaundice, Hypopnea, Respiratory failure, Hypertonia, Bradycardia... OMIM:617248
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Vocal cord paralysis, Seizure, Myoclonus, Dystonia, Spasticity ORPHA:500144
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... ORPHA:401973
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Paralysis OMIM:242100
Mucopolysaccharidosis Type 3
Cardiomegaly, Thickened helices, Conductive hearing impairment, Loss of ambulation, Retinal degen... ORPHA:581
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... ORPHA:99956
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia OMIM:617301
Cowden Syndrome 1
Intention tremor, Decreased circulating antibody level OMIM:158350
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity OMIM:301078
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Choreoa... ORPHA:2715
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Good Syndrome
Decreased circulating antibody level ORPHA:169105
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Babinski si... ORPHA:466768
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Diabetes mellitus, Hyperuricemia, Hearing impairment ORPHA:93111
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal repetitive mannerism... ORPHA:580
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Alopecia, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, ... ORPHA:79404
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural heari... OMIM:614863
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Decreased circulating antibody level OMIM:243150
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios, Aplasia/Hypoplasia of the eyebrow ORPHA:990
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Failure to thrive, Periodic paralysis, Splenomegaly, M... OMIM:276700
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Leukocytosis, Anemia, Leukopenia, Addictive alcohol use, Neutropenia, Thr... ORPHA:520
Monosomy 18Q
Poor coordination, Choreoathetosis, Failure to thrive, Slender build, Decreased circulating IgA l... ORPHA:1600
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure, Elevated hemoglobin A1c OMIM:619278
Choreoacanthocytosis
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vibratory sen... ORPHA:2388
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Retinal calcification, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic ... ORPHA:93325
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Abnormal heart morphology OMIM:175700
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Medial flaring of the eyebrow, Respiratory distress, Tricuspid regu... OMIM:612863
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Helix Syndrome
Hypokalemia, Polydipsia, Hypermagnesemia OMIM:617671
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level OMIM:617425
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatem... ORPHA:2088
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Hypochromic microcytic anemia, Anemia, Steatorrhea ORPHA:440713
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperaldosteronis... OMIM:241200
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Pulmonary hypoplasia, Polyhydramnios OMIM:151210
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art... OMIM:616482
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Dystonia, Periphera... OMIM:250100
Pettigrew Syndrome
Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Gait ataxia, Choreoathetosi... OMIM:304340
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Pgm3-Cdg
Ataxia, Increased circulating IgA level, Increased circulating IgE level, Increased circulating I... ORPHA:443811
Marchiafava-Bignami Disease
Ataxia, Facial palsy, Aggressive behavior, Gait ataxia, Addictive alcohol use, Gait disturbance ORPHA:221074
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Eosinophilia, Abnormality of the spleen, Mediastin... ORPHA:228123
Bardet-Biedl Syndrome 20
Papilledema, Atrial septal defect, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dy... OMIM:619471
Rodrigues Blindness
Sparse hair, Nasal flaring, Fine hair OMIM:268320
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Optic disc pallor, Akinesia, Acanthocytosis, Hand tremor, Prominent antihelix,... OMIM:618947
Immunodeficiency 17
Failure to thrive, Chronic decreased cirulating IgG2 OMIM:615607
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Decreased circulating IgA level OMIM:613327
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Optic atrophy, Hypokalemia, Hypocalcem... OMIM:617913
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Poems Syndrome
Papilledema, Diabetes mellitus, Pericardial effusion, Thrombocytosis, Polycythemia, Visceromegaly ORPHA:2905
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Repeated pneumothoraces, Atelectasis, Respiratory insufficienc... ORPHA:536467
Hypomagnesemia 3, Renal
Polydipsia, Hyperuricemia, Hypomagnesemia OMIM:248250
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax OMIM:620278
Von Hippel-Lindau Disease
Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea... ORPHA:892
Proximal Renal Tubular Acidosis
Bicarbonaturia, Coloboma, Hypokalemia, Glycosuria, Subvalvular aortic stenosis, Polydipsia ORPHA:47159
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... ORPHA:309256
Neuroleptic Malignant Syndrome
Tachycardia, Extrapyramidal muscular rigidity, Hypertensive crisis, Oculogyric crisis, Pulmonary ... ORPHA:94093
Combined Oxidative Phosphorylation Deficiency 29
Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy OMIM:616811
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Bilateral tonic-clonic seizure, Hypovolemia, Weight loss, Apraxia, Gen... ORPHA:99885
Joubert Syndrome 8
Optic disc pallor, Ataxia, Pigmentary retinopathy, Hepatomegaly OMIM:612291
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Broad-based gait, Exaggerated startle response, Bicuspid aortic valve, Ventric... ORPHA:438213
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Low-set ears, Dystonia, Cherry ... ORPHA:79255
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... ORPHA:2330
Ramos-Arroyo Syndrome
Respiratory distress, Sparse scalp hair, Xerostomia, Decreased body weight, Severe failure to thr... ORPHA:1051
Igg4-Related Pachymeningitis
Complement deficiency, Paraparesis, Increased circulating IgG4 level ORPHA:449427
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Hepatomegaly, Polyhydramnios, Cardiomegaly, Asplen... OMIM:306955
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect OMIM:619769
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ... OMIM:248370
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Neonatal inspiratory stridor ORPHA:684
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response t... ORPHA:83471
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... OMIM:213300
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Optic atrophy, Abnormal au... OMIM:231550
Fumarase Deficiency
Perimembranous ventricular septal defect, Optic atrophy, Polycythemia, Hyperbilirubinemia OMIM:606812
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Teratoma, Pineal
Polydipsia OMIM:273120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase... OMIM:236670
Aniridia 2
Aniridia, Optic atrophy, Iris coloboma OMIM:617141
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia ORPHA:935
Plague
Respiratory distress, Hepatomegaly, Tachycardia, Edema, Hematemesis, Lymphadenitis, Splenomegaly,... ORPHA:707
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita... ORPHA:29072
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hyperalaninemia, Optic disc pallor, Hepatomegaly, Ataxia, Hypoglycemia, Optic neuropathy, Splenom... OMIM:252010
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia... OMIM:620358
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... ORPHA:91500
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Abnormal cortical gyration, Unilateral br... OMIM:300968
Cockayne Syndrome
Progressive gait ataxia, Retinal arteriolar constriction, Retinal degeneration, Intention tremor,... ORPHA:191
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... ORPHA:3205
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Ventricular septal defect, Abnormal repetitive mannerisms, Sensorineura... OMIM:301040
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia OMIM:300100
Kallmann Syndrome
Ataxia, Tremor, Obesity, Paraplegia, Seizure, Gait disturbance, Breast hypoplasia ORPHA:478
Achondroplasia
Respiratory distress, Upper airway obstruction, Pulmonary hypoplasia, Polyhydramnios OMIM:100800
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Anorexia, Splenomegaly, Optic atrophy, Leukope... ORPHA:1328
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking ORPHA:3198
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Supernumerary nipple ORPHA:2519
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Periodic paralysis, Syncope, Palpitation... OMIM:170390
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Rod-cone dystrophy OMIM:601539
Norrie Disease
Retinal detachment, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Retinal... OMIM:310600
Acute Intermittent Porphyria
Tachycardia, Somatic sensory dysfunction, Tremor, Respiratory insufficiency, Hypertension, Pseudo... ORPHA:79276
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Ataxia, Hypoglycemia, EEG abnormality, Recurrent hypoglycemia, Hyperglycemia, H... OMIM:124000
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Small for gestational age OMIM:601675
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Asplenia, Aortic valve stenosis, Pulmonary arterial hyp... ORPHA:210122
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... OMIM:613843
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia OMIM:617527
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Small for gestational age, Highly arched eyebrow, Increased hepatocellular lipi... OMIM:220111
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia OMIM:307200
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia ORPHA:99880
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Tricuspid regurgitation, Ta... ORPHA:99125
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Parathyroid Carcinoma
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia ORPHA:143
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Pig... OMIM:610651
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Low-set ears, Postprandial hyperglycemia, Hyperglycemia, ... OMIM:246200
Xq21 Microdeletion Syndrome
Stapes ankylosis, Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Dilatate... ORPHA:1435
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Oculo-Palato-Cerebral Syndrome
Thickened helices, Retinal detachment, Macrotia, Remnants of the hyaloid vascular system ORPHA:2714
Norrie Disease
Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... ORPHA:649
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Whim Syndrome
Poor fine motor coordination, Limb ataxia, Decreased circulating antibody level ORPHA:51636
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios, Enlarged kidney, Splenic cyst OMIM:618188
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Abnormality of the pancreas, Hypertension ORPHA:1555
Rubinstein-Taybi Syndrome 1
Respiratory distress, Polyhydramnios, Low anterior hairline, Hepatic hemangioma, Frontal hirsutis... OMIM:180849
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Adnp Syndrome
Respiratory distress, Sparse scalp hair, Recurrent upper respiratory tract infections, Truncal ob... ORPHA:404448
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Gaucher Disease
Hepatomegaly, Pancytopenia, Ataxia, Tremor, Hemiplegia/hemiparesis, Thrombocytopenia, Splenomegal... ORPHA:355
Sotos Syndrome
Tremor, Small cell lung carcinoma, Sparse anterior scalp hair, Poor coordination, Pedal edema, Ac... ORPHA:821
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Hepatomegaly... ORPHA:90324
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyela... OMIM:305100
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormality of hair texture, Tremor, Splen... ORPHA:667
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Periventricular heterotopia OMIM:618733
Short Syndrome
Sensorineural hearing impairment, Insulin resistance, Insulin-resistant diabetes mellitus, Glucos... OMIM:269880
Vici Syndrome
Decreased circulating IgG level, Failure to thrive, Decreased T cell activation, Cutaneous anergy... OMIM:242840
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Broad-based gait, Aplasia/Hypoplasia of the earlobes, Optic atrophy, EEG abnormality, Absent earlobe OMIM:609037
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating antibody level ORPHA:293978
Joubert Syndrome 21
Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Dysphagia, ... OMIM:615636
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Dystonia, Cardiomegaly, Tremor, Hemiplegia/hemiparesis, Neonata... ORPHA:51
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Obesity, Oligoh... ORPHA:177907
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449432
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Ventricular septal defect, Aggre... ORPHA:96121
Renal Hypoplasia
Polydipsia ORPHA:93101
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Trichothiodystrophy
Abnormal pyramidal sign, Gait ataxia, Hypertonia, Intention tremor, Spasticity, Panhypogammaglobu... ORPHA:33364
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Impaired T cell function OMIM:176690
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increas... OMIM:227810
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Sensorineural hearing impairment, Optic atrophy, Type II diabetes mellitus, Ataxia OMIM:604121
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Sparse scalp hair, Neonatal respiratory d... OMIM:614748
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Hypertriglyceridemia, Diabetes mellitus, Aortic valve calcif... ORPHA:79474
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Weight loss, Increased circulating IgG4 level, Increased circula... ORPHA:79078
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Hearing impairment OMIM:620114
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Leukocyte Adhesion Deficiency Type Ii
Ataxia, Small for gestational age, Lower limb hypertonia, Failure to thrive, Abnormal isohemagglu... ORPHA:99843
Nephronophthisis 3
Polydipsia OMIM:604387
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... OMIM:259900
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Failure to thrive, Small for gestational age, Pulmonary artery stenosis, Bi... ORPHA:2255
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy OMIM:260920
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Optic nerve hypoplasia, Facial palsy, Truncus arteriosus, Ventricular sept... ORPHA:508498
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Periodic hypokalemic paresis, Anemia, Hepatosplenomegaly OMIM:259730
Schinzel-Giedion Syndrome
Respiratory distress, Myeloid leukemia, Failure to thrive in infancy, Recurrent pneumonia, Vocal ... ORPHA:798
Spastic Tetraplegia And Axial Hypotonia, Progressive
Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears OMIM:618598
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Short nail, Polyhydramnios, Tracheobr... OMIM:114290
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Dystonia, ... OMIM:616268
Temtamy Preaxial Brachydactyly Syndrome
Severe sensorineural hearing impairment, Abnormal optic disc morphology, Optic atrophy, Low-set ears ORPHA:363417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, EEG abnormali... OMIM:253280
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Supraventricular arrhythmia, Tremor, Congestive heart failure, Weight los... ORPHA:91347
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia OMIM:613309
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Progr... ORPHA:268882
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Hyperglycemia OMIM:615954
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Azotemia OMIM:619321
Autosomal Dominant Hypocalcemia
Writer's cramp, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Brucellosis
Small for gestational age, Chorea, Weight loss, Increased circulating IgG level, Increased circul... ORPHA:1304
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Generalized Arterial Calcification Of Infancy
Respiratory distress, Transient ischemic attack, Failure to thrive in infancy, Edema, Cardiomegal... ORPHA:51608
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Parkinsonism, Overweight, Paraparesis, Obesity, Abnormality of extrapyramidal motor funct... ORPHA:2822
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Posteriorly rotated ears, Asymmetry ... OMIM:300166
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Degcags Syndrome
Polyhydramnios, Synophrys, Vocal cord paralysis, Low anterior hairline, Premature graying of hair... OMIM:619488
Primary Hyperoxaluria
Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Optic atrophy, Cardiomyopathy, Re... ORPHA:416
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Cartilage-Hair Hypoplasia
Failure to thrive, Decreased circulating antibody level ORPHA:175
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Abnormal eyelash morphology, Dyspnea, Dilated card... ORPHA:2556
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Protruding ear, Hypokalemia... ORPHA:508
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Sudden cardiac death, Congestive heart failure, Dilated cardiomyo... ORPHA:73224
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Breast aplasia, Failure to thrive ORPHA:2554
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Primary Sjögren Syndrome
Chorea, Decreased circulating antibody level, Increased circulating antibody level, Decreased cir... ORPHA:289390
Autoimmune Polyendocrinopathy Type 4
Decreased circulating antibody level ORPHA:227990
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... ORPHA:805
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Syndromic Diarrhea
Small for gestational age, Panhypogammaglobulinemia ORPHA:84064
Autoimmune Polyendocrinopathy Type 3
Decreased circulating antibody level ORPHA:227982
Isolated Osteopoikilosis
Addictive alcohol use, Abnormal heart morphology ORPHA:166119
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... ORPHA:79098
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Synophrys, Poor coordination, Nasal flaring, Obesity ORPHA:466943
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia, Oligohydramnios ORPHA:3206
Lysinuric Protein Intolerance
Decreased circulating antibody level, Abnormality of humoral immunity, Increased circulating anti... ORPHA:470
Pineoblastoma
Seizure, Paralysis ORPHA:251909
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Retinal dystrophy, Subretinal deposits, Abnormal optic disc mo... ORPHA:397715
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Small for gestational age, Highly arched eyebr... ORPHA:508488
Nijmegen Breakage Syndrome
Dysgammaglobulinemia OMIM:251260
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use, Difficulty walking ORPHA:399180
Hennekam Syndrome
Decreased circulating antibody level ORPHA:2136
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Hepatomegaly, Respiratory distress, Polyhydramnios OMIM:617088
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Doors Syndrome
Respiratory distress, Polyhydramnios, Low anterior hairline, Myoclonus, Aspiration pneumonia, Thr... ORPHA:79500
Alström Syndrome
Respiratory distress, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Ataxia, Portal hypertens... ORPHA:64
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Posteriorly rotated ears, Ventricular septal defect, Coronary sinus enlargemen... OMIM:619268
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Unilateral deafness, Cupped ear... OMIM:619539
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... ORPHA:95455
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Thrombocytopenia-Absent Radius Syndrome
Decreased circulating antibody level OMIM:274000
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Paraparesis, Oromotor apraxia, Spastic tetraplegia, Dysmetria, Pseudobulba... ORPHA:98889
Feingold Syndrome 1
Accessory spleen, Tricuspid stenosis, Polyhydramnios, Asplenia, Vocal cord paralysis, Polysplenia... OMIM:164280
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, Patent foramen ovale,... OMIM:600001
Arachnoid Cyst
Hemiparesis, Paraparesis, Slurred speech, Tetraparesis ORPHA:2356
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Curly hair, Abnormal cortical gyration, Cyst of the ductus choledochus, Car... ORPHA:480880
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Ventricular septal defect, Sensorine... ORPHA:444077
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level, Fasciculations ORPHA:99827
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Yellow Fever
Increased circulating IgM level, Increased circulating interleukin 6 concentration ORPHA:99829
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Oligohydramnios ORPHA:3404
Isolated Arrhinia
Respiratory distress ORPHA:1134
22Q11.2 Deletion Syndrome
Failure to thrive, Impaired T cell function, Obesity ORPHA:567
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Single ... OMIM:157170
Sponastrime Dysplasia
Small for gestational age, Decreased circulating antibody level ORPHA:93357
Oculodentodigital Dysplasia
Paraparesis, Spasticity, Ataxia, Tetraparesis OMIM:164200
Acute Transverse Myelitis
Paraparesis, Babinski sign, Paraplegia, Abnormality of extrapyramidal motor function, Spasticity,... ORPHA:139417
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Dysphagia, EEG with generalized slow activity OMIM:618367
Digeorge Syndrome
Hemiparesis, Impaired T cell function, Obesity OMIM:188400
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia, Acute myelomonocytic leukemia, Lymphangioma, Failure t... ORPHA:99646
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Ventricular septal defect, Microtia, Low-... OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Poor fine motor coordination, Spasticity, Failure to thrive, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Spasticity, Decreased body weight, Ataxia, Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Poor fine motor coordination, Spasticity, Failure to thrive, Decreased circulating antibody level ORPHA:261552
Split Cord Malformation
Paraparesis ORPHA:573278

Histopathology

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

There is no histopathology data for Dbnl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dbnl.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Dbnltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dbnltm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Dbnltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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