Gene Summary

SH3P7,  mAbp1,  ABP1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 retinal blood vessel morphology Dbnltm1b(KOMP)Wtsi HOM   Early adult 5.34×10-05
increased heart weight Dbnltm1b(KOMP)Wtsi HOM Early adult 2.07×10-06
decreased circulating triglyceride level Dbnltm1b(KOMP)Wtsi HOM   Early adult 6.10×10-05
abnormal auditory brainstem response Dbnltm1b(KOMP)Wtsi HOM   Early adult 5.69×10-07
increased fluid intake Dbnltm1b(KOMP)Wtsi HOM Early adult 1.23×10-06
hypoactivity Dbnltm1b(KOMP)Wtsi HOM Early adult 6.06×10-07
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
abnormal retinal inner nuclear layer morphology Dbnltm1b(KOMP)Wtsi HOM   Early adult 4.70×10-05
decreased hemoglobin content Dbnltm1b(KOMP)Wtsi HOM Early adult 1.63×10-05
persistence of hyaloid vascular system Dbnltm1b(KOMP)Wtsi HOM Early adult 4.70×10-10
increased grip strength Dbnltm1b(KOMP)Wtsi HOM Early adult 6.35×10-05
increased startle reflex Dbnltm1b(KOMP)Wtsi HOM Early adult 1.98×10-05
decreased erythrocyte cell number Dbnltm1b(KOMP)Wtsi HOM Early adult 2.17×10-07
decreased circulating cholesterol level Dbnltm1b(KOMP)Wtsi HOM Early adult 2.76×10-06
decreased hematocrit Dbnltm1b(KOMP)Wtsi HOM   Early adult 6.83×10-05
abnormal retinal vasculature morphology Dbnltm1b(KOMP)Wtsi HOM   Early adult 5.34×10-05
decreased circulating serum albumin level Dbnltm1b(KOMP)Wtsi HOM Early adult 3.05×10-05
decreased circulating HDL cholesterol level Dbnltm1b(KOMP)Wtsi HOM Early adult 1.61×10-05
abnormal optic disk morphology Dbnltm1b(KOMP)Wtsi HOM Early adult 2.08×10-06
increased mean corpuscular volume Dbnltm1b(KOMP)Wtsi HOM Early adult 1.76×10-08
decreased total retina thickness Dbnltm1b(KOMP)Wtsi HOM Early adult 3.53×10-05
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

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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.


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

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
Matching phenotypes Source
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Right ventricular failure, Respiratory distress, Abnormal resp... ORPHA:70589
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy OMIM:618987
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Failure to thrive OMIM:617744
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Slurred speech, Spastic gait, Babinski sign OMIM:160120
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating interleukin 6, Decreased circulating IgG l... OMIM:618944
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Mental Retardation, Autosomal Dominant 55, With Seizures
Seizure, Tremor, Gait ataxia, Generalized myoclonic seizure OMIM:617831
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Decreased circulating antibody level, Hemiplegia/hemiparesis, Ataxia ORPHA:2572
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Agammaglobulinemia, Decreased circulating IgA level, Failure to thrive... OMIM:300400
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Failure to thrive OMIM:615592
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Weight loss, Asthma, Hemoptysis, Pul... ORPHA:1164
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Unsteady gait, Frequent falls OMIM:616921
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic seizure ORPHA:22
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... OMIM:617765
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Seizure, Myoclonus, Babinski sign,... OMIM:606777
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Lymphedema, Pleural effusion, Pericardial effusion, Small for gestati... ORPHA:1041
Cerebellar Ataxia And Albinism
Head tremor, Albinism, Ataxia OMIM:258300
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Tortico... OMIM:618425
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:300861
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Epilepsy, Progressive Myoclonic, 1B
Tremor, Atonic seizure, Babinski sign, Dysmetria, Generalized myoclonic seizure OMIM:612437
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Immunodeficiency 48
Panhypogammaglobulinemia, Failure to thrive OMIM:269840
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Wheezing, Chronic pulmonary obstruction, Dyspnea, Hepatocellular carcinoma, Panacinar ... OMIM:613490
Mental Retardation, Autosomal Recessive 6
Tremor, Dystonia, Seizure, Myoclonus, Involuntary movements OMIM:611092
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Acute Peripheral Arterial Occlusion
Paresthesia, Leukocytosis, Abnormal capillary physiology, Paralysis, Myocardial infarction, Supra... ORPHA:90064
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Epilepsy, Progressive Myoclonic 7
Seizure, Tremor, Myoclonus, Ataxia OMIM:616187
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Status epileptic... ORPHA:71277
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Failure to thrive OMIM:613501
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Lymphopenia, Hypoproteinemia ORPHA:1116
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Neonatal death, Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Immunodeficiency 18
Defective T cell proliferation OMIM:615615
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Ceroid Lipofuscinosis, Neuronal, 9
Vacuolated lymphocytes, Ataxia, Progressive inability to walk, Optic atrophy, Rod-cone dystrophy OMIM:609055
Porphyria, Acute Hepatic
Hemolytic anemia, Paresthesia, Paralysis, Respiratory paralysis, Failure to thrive OMIM:612740
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Hypocomplementemic Urticarial Vasculitis
Restrictive ventilatory defect, Small vessel vasculitis, Dyspnea, Pleural effusion, Emphysema, Co... ORPHA:36412
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Tetraplegia... OMIM:104290
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... OMIM:614018
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Seizure, Hepatomegaly, Myoclonus... OMIM:615924
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level, Cerebral palsy, Spasticity OMIM:618973
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Seizure, Dysmetria, Hyperactivity, Rigidity, General... OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Peripheral axonal neuropathy, Hypoalbuminemia, Steppage gait OMIM:607250
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia, Premature graying of hair OMIM:190200
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Impaired T cell function, Decreased circulating IgG level, Decre... OMIM:607594
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Seizure, Cardiac arrest, Failure to thrive OMIM:618951
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Absence seizure with eyelid myoclonia, Atonic seizur... OMIM:618587
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Abnormal pyramidal sign, At... OMIM:607208
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Progressive gait ataxia, Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Abetalipoproteinemia, Abnormal erythrocyte morphology, Ataxia, Hypocholes... ORPHA:96180
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Paralysis, Myocardial infarction, Congestive ... ORPHA:132
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Ribose 5-Phosphate Isomerase Deficiency
Elevated circulating ribitol concentration, Optic atrophy, Ataxia, Increased level of D-threitol ... OMIM:608611
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure OMIM:141500
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Respiratory distress, Ataxia OMIM:619099
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Bilateral to... ORPHA:100988
Immunodeficiency 61
Agammaglobulinemia, Obesity OMIM:300310
Gaucher Disease Type 2
Respiratory distress, Cough, Hepatomegaly, Splenomegaly, Cardiac arrest, Abnormal pattern of resp... ORPHA:77260
Pulmonary Blastoma
Dyspnea, Pleuropulmonary blastoma, Cough, Weight loss, Recurrent pneumonia, Hemoptysis, Pulmonary... ORPHA:64741
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Seizure, Parkinsonism, Rigidity, Shuffli... OMIM:615528
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Dyspnea, Cough, Follicular hyperplasia, Plasmacytosis, Nodular patter... ORPHA:60026
Sandhoff Disease
Ataxia, Seizure, Hepatomegaly, Congestive heart failure, Failure to thrive, Splenomegaly ORPHA:796
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Babinski sign OMIM:615362
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilep... OMIM:618924
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Dystonia 23
Arrhythmia, Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus... OMIM:614860
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Bilateral tonic-clonic seizure, Hepatomegaly, Myoclonus, Splenomegaly ORPHA:139406
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Distal sensory impairment, Splenomeg... OMIM:616719
Citrullinemia Type Ii
Hypercholesterolemia, Tremor, Hypoproteinemia, Lethargy, Abnormal eating behavior, Hepatomegaly, ... ORPHA:247585
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Hearing impairment, Diabetes mellitus, Optic atr... OMIM:614296
Vocal cord paresis, Paresthesia, Seizure, Sudden cardiac death, Cerebral palsy, Attention deficit... ORPHA:770
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Pericardial effusion, Neutr... ORPHA:167
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria, Attention defic... OMIM:619191
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Focal hemifacial clonic seizure, Focal-onset seizure, Seizure, Write... OMIM:608105
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Dystonia, Truncal ataxia, Gait ataxia, Limb ataxia, Ataxia, Decreas... OMIM:208920
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Respiratory distress, Parkinsonism with favorable response to dopa... ORPHA:240103
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Ovarian Hyperstimulation Syndrome
Hypovolemia, Pleural effusion, Peripheral edema, Hirsutism, Enlarged polycystic ovaries, Ascites,... ORPHA:64739
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Poikilocytosis, Retinal atrophy, Elliptocytosis, Retinal... OMIM:616959
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Seizure, Lower limb spasticity, Spastic gait, Impaired vibration sens... OMIM:600363
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Bilateral tonic-clonic seizure, Ataxia, Failure to thrive in infancy,... OMIM:619065
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Budd-Chiari syndrome, Pneumonia, Hepatomegaly, Pulmonary ... OMIM:226300
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Hearing impairment, Peripheral axonal neuropathy, Optic atrophy, Optic disc p... OMIM:617087
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Hydrops fetalis, Respiratory distress, Paroxysmal supraven... ORPHA:45452
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Dyspnea, Paralysis, Laryngeal stridor, Progressive cerebellar ataxia, Dysmetria, Lim... OMIM:606183
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait ORPHA:94124
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia... OMIM:617836
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Intestinal lymphangiectasia, Edema, A... OMIM:616843
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance, Optic atrophy OMIM:311100
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment, Ataxia OMIM:136600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Action tremor, Bilateral tonic-clonic seizure, Bradykinesia, Parkinson... OMIM:300423
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute myeloid leukemi... ORPHA:86839
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Ataxia, Hearing impairment, EEG abnormality, Optic atrophy ORPHA:2732
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Cach... OMIM:618093
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Focal-onset seizure, Hyperkinetic movements... ORPHA:725
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Seizure, Tremor, Stereotypy, Ataxia OMIM:617862
Spastic Ataxia 7, Autosomal Dominant
Dysdiadochokinesis, Spastic ataxia, Optic atrophy OMIM:108650
Immunodeficiency 60
Decreased circulating IgE, Decreased circulating total IgM, Decreased circulating IgG level, Decr... OMIM:618394
Senior-Loken Syndrome 1
Polydipsia, Rod-cone dystrophy, Anemia OMIM:266900
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatomegaly, Hypoalbuminemia, Dilated cardiomyopathy, Broad-based gait OMIM:618805
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Transcobalamin Ii Deficiency
Ataxia, Decreased circulating IgA level, Failure to thrive, Decreased circulating total IgM, Decr... OMIM:275350
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Atonic seizure, Slurred speech, Gai... ORPHA:93952
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Atonic sei... ORPHA:36387
Dengue Fever
Hypoproteinemia, Lethargy, Thrombocytopenia, Hepatomegaly, Leukopenia ORPHA:99828
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Diaphragmatic paralysis, Respiratory distress, Respiratory insuff... OMIM:614399
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Wolff-Parkinson-White syndrome, Abnormal pyramidal sign, Ataxia, Seizure,... OMIM:614947
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tr... ORPHA:2414
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Spastic Paraplegia 57, Autosomal Recessive
Inability to walk, Optic atrophy OMIM:615658
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Hepatosplenom... OMIM:209950
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Failure to thrive in infancy, S... OMIM:617241
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Generalized edema, Lymphopenia, Intestinal lymphangiectasia, Abnormal paranasal sinus morphology OMIM:207731
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Seiz... ORPHA:2590
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Emphysema, Hepatitis ORPHA:60
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Focal-onset seizure, Hyperkinetic movements, Myoclonic absen... OMIM:619317
Senior-Loken Syndrome 4
Polydipsia, Rod-cone dystrophy, Anemia OMIM:606996
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Microcytic anemia OMIM:619013
Cerebral Cavernous Malformations 3
Seizure, Cerebral hemorrhage, Paralysis OMIM:603285
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Tremor OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypoa... ORPHA:507
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Methylmalonic acidem... OMIM:277410
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Congestive heart failure, ... ORPHA:324588
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Ataxia, Bradykinesia, Seizure, Small for gestational age,... OMIM:261640
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Maturity-onset diabetes of the young, Cone dy... OMIM:268040
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Thrombocytopenia, Hepatomegaly, Hypoalbuminemia, Anemia, Abnormal card... OMIM:608104
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:79137
Riddle Syndrome
Decreased circulating IgG level, Ataxia OMIM:611943
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Falls, F... ORPHA:139426
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Lower limb spasticity, Imp... OMIM:619028
Reticulocytosis, Cardiomegaly, Anemia, Hypoalbuminemia, Abnormal circulating apolipoprotein conce... ORPHA:14
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Bilateral... ORPHA:306
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Seizure, Myoclonus, Choreoathetosis OMIM:261630
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Emphysema, Lymphopenia, Recurrent bronchopulmonary infecti... OMIM:242700
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Failure to thrive OMIM:615767
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Gait disturbance, Optic atrophy, Hyperglycinemia OMIM:616859
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Dy... OMIM:618917
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Somatic sensory dysfu... ORPHA:90117
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus OMIM:612016
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Methylcobalamin Deficiency Type Cble
Lethargy, Neutropenia, Pancytopenia, Hearing impairment, Hypomethioninemia, Increased mean corpus... ORPHA:2169
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Failure to thrive OMIM:618495
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Focal-onset seizure, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, My... ORPHA:726
Eisenmenger Syndrome
Ventricular arrhythmia, Wheezing, Exertional dyspnea, Tricuspid regurgitation, Pulmonary arterial... ORPHA:97214
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Atrial septal defect, Enlarged kidney, Chorioretinal hypopigmentation, Neutrop... OMIM:617303
Spinal muscular atrophy, type I, with congenital bone fractures
Generalized edema, Hypertrichosis, Respiratory distress OMIM:271225
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Optic Atrophy 3, Autosomal Dominant
Hearing impairment, Tremor, Optic atrophy, Optic disc pallor OMIM:165300
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:613721
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:331206
Nephrotic Syndrome, Type 14
Lymphopenia, Ataxia, Hypoglycemia, Hypertriglyceridemia, Sensorineural hearing impairment, Hypoal... OMIM:617575
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Griscelli Syndrome, Type 2
Spasticity, Reduced delayed hypersensitivity OMIM:607624
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Laryngotracheal stenosis, Weight loss, Upper airway obstruc... ORPHA:142
Cutis Laxa, Autosomal Dominant 1
Emphysema, Mitral regurgitation, Aortic regurgitation OMIM:123700
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, EEG abnormality, Ataxia, Retinal dystrophy OMIM:614706
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Shock, Neutrophilia, Respiratory distress, Pleural empyema, Pulmona... ORPHA:36238
Emphysema, Anemia, Respiratory insufficiency, Failure to thrive in infancy ORPHA:436
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Johanson-Blizzard Syndrome
Hypoproteinemia, Dextrocardia, Sensorineural hearing impairment, Anemia, Abnormal cardiac septum ... ORPHA:2315
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy OMIM:618572
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Hemolytic anemia, Bronchiectasis, Autoimmun... ORPHA:1572
X-Linked Immunoneurologic Disorder
Hemiplegia/hemiparesis, Hypertonia, Decreased circulating IgG2 level ORPHA:2571
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Postural tremor, Dystonia, Head tremor, Dysphagia, Elevated alpha-fetoprote... ORPHA:64753
Paroxysmal Non-Kinesigenic Dyskinesia
Dyspnea, Rigidity, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Involuntar... ORPHA:98810
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Difficulty walking, Ataxia, Peripheral axonal neuropathy, Elevated circulating ... OMIM:615673
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Dehydration, Splenomegaly, Fai... ORPHA:79312
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia, Hepatomegaly, Retinal dystrophy, Sensorineural hearing impairme... OMIM:266510
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Eosinophilic Gastroenteritis
Leukocytosis, Dysphagia, Steatorrhea, Hypoalbuminemia, Anemia, Elevated circulating C-reactive pr... ORPHA:2070
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Edema, Pulmonary edema... OMIM:267450
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Tremor, Diffic... ORPHA:477673
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, F... ORPHA:2382
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... ORPHA:330050
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Rosaï-Dorfman Disease
Paraplegia, Dysgammaglobulinemia ORPHA:158014
Hodgkin Lymphoma
Dyspnea, Cough, Weight loss, Ataxia, Hepatomegaly, Splenomegaly, Hemoptysis, Lymphadenopathy ORPHA:98293
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Respiratory distress, Decreased body weight, Respiratory insufficiency due to mus... OMIM:300580
Landau-Kleffner Syndrome
Generalized clonic seizure, Gait ataxia, Speech apraxia, Non-convulsive status epilepticus withou... ORPHA:98818
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Internal hemorrhage, Decreased mean corpuscu... ORPHA:244242
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Failure to thrive, Choreoathetosis OMIM:609056
Optic Atrophy 5
Optic atrophy OMIM:610708
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Lethargy, Ventricula... ORPHA:26793
Nipah Virus Disease
Tremor, Respiratory distress, Hypotension, Cough, Myoclonus, Recurrent pharyngitis ORPHA:99825
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Respiratory tract infection, Dyspnea, Anasarca, Palpebral edema, Pleural effusion, Pedal edema, H... ORPHA:567546
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Diffuse alveolar hemorrhage, Abnorm... ORPHA:178320
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Hepatojugular reflux, Late inspiratory ... ORPHA:2302
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Dysphagia, Thrombocytopenia, Hearing impairmen... ORPHA:261250
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Tremor, Premature graying of hair, Hypertonia, Ataxia, Seizure, Rigidit... ORPHA:33445
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia OMIM:613502
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Emphysema OMIM:210050
Autoimmune Lymphoproliferative Syndrome, Type V
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:616100
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:254800
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... ORPHA:216873
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Seizure, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Bilateral tonic-clonic seizure OMIM:269720
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Paresthesia ORPHA:640
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy, Paralysis OMIM:613710
Fanconi Renotubular Syndrome 5
Pulmonary fibrosis, Emphysema, Hypertension, Decreased DLCO, Lung adenocarcinoma OMIM:618913
Combined Saposin Deficiency
Generalized clonic seizure, Hyperkinetic movements, Hepatomegaly, Myoclonus, Babinski sign, Splen... OMIM:611721
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... ORPHA:1302
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Increased circulating IgG level,... OMIM:618534
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Thiamine-responsive mega... OMIM:249270
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Failure to thrive OMIM:601457
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Seizure, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy OMIM:613672
Developmental And Epileptic Encephalopathy 30
Seizure, Stereotypy, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Polyphagia, Attenuation of retinal blood vessels, Retina... OMIM:615986
Netherton Syndrome
Abnormal hair morphology, Emphysema, Recurrent respiratory infections, Sparse scalp hair, Dehydra... ORPHA:634
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Babinski sign, Lim... ORPHA:101109
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Failure to thrive, Bilateral tonic-clonic seizure, Spasticity OMIM:616281
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Pericardial effusion, Hypoalb... ORPHA:90362
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Seizure, Tongue fasciculations, Myoclonus, Fasciculations, Frequent f... OMIM:159950
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Castleman Disease
Abdominal mass, Dyspnea, Anasarca, Restrictive cardiomyopathy, Cough, Generalized lymphadenopathy... ORPHA:160
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Tongue fasciculations, Respiratory distress, Respiratory insufficiency ORPHA:238329
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia OMIM:612692
Chylomicron Retention Disease
Retinopathy, Hypocholesterolemia, Steatorrhea, Acanthocytosis ORPHA:71
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Autosomal Recessive Progressive External Ophthalmoplegia
Dysphagia, Abnormal retinal morphology, Optic neuritis, Action tremor, Ataxia, Bradykinesia, Hear... ORPHA:254886
Immunodeficiency 46
Decreased circulating antibody level, Failure to thrive OMIM:616740
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Retinal degeneration, Optic atrophy OMIM:614322
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, He... ORPHA:540
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Familial Cervical Artery Dissection
Paresthesia, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Paralysis, Cer... ORPHA:36382
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Lethargy, Ventricular septal defect, Megaloblastic anemia, Retinal dystroph... ORPHA:49827
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Macrotia, Pericardial effusion, Ataxia, Hypocholesterolemia, Hepatomegaly, Hypoal... OMIM:212065
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Seizure, Hyperactivity, Spasticity OMIM:300983
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Lambert Syndrome
Decreased circulating antibody level, Failure to thrive in infancy ORPHA:1296
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Myeloma, Multiple
Paraproteinemia OMIM:254500
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Restrictive ventilatory defect, Dyspnea, Gastrointestinal hemorrhage, Lymphedema, Emphysema, Coug... ORPHA:538
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Hypertonia, Failure to thrive, Cardiomyopathy ORPHA:26792
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia, Abnormal heart morphology, Chron... ORPHA:811
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Seizure, Somatic sensory dysfunction, Rigidity, Syncope OMIM:603472
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Br... ORPHA:240085
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress, Obesity OMIM:615993
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Concentric hypertrophic cardiomyopathy, Progressive inability to walk, Op... OMIM:204200
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Type 1 Diabetes Mellitus
Polyphagia, Diabetes mellitus, Hyperglycemia, Polydipsia, Decreased level of 1,5 anhydroglucitol ... OMIM:222100
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Gait ataxia, Apraxia, Dystonia, Gait disturbance,... ORPHA:3095
Gaucher Disease, Type Iii
Spastic paraparesis, Decreased body weight, Ataxia, Pancytopenia, Thrombocytopenia, Hepatomegaly,... OMIM:231000
Urocanase Deficiency
Tremor, Ataxia, Fair hair OMIM:276880
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Difficulty walking, Neutropenia, Hepatomegaly, Elevated circulating creatine k... OMIM:251900
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure OMIM:609446
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Respiratory distress ORPHA:171703
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:181000
Huntington Disease-Like 2
Dystonia, Chorea, Action tremor, Weight loss, Bradykinesia, Rigidity OMIM:606438
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Sensorineural hearing impairment, Bone... OMIM:618889
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Respiratory distress, Failure to thrive OMIM:615595
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... ORPHA:276435
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia OMIM:617156
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Pericardial effusion, Neutropenia, Thrombocytopenia... ORPHA:292
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Cirrhosis, Poor motor coordination, Hepatic steatosis, Abnormal pyramidal si... ORPHA:363400
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Spasticity, Oculomotor apraxia... OMIM:614487
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural hearing impairment, A... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural hearing impairment, A... ORPHA:529799
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Infection-Related Hemolytic Uremic Syndrome
Respiratory tract infection, Dyspnea, Hemolytic anemia, Pleuritis, Leukocytosis, Hypertensive cri... ORPHA:544482
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Abnormal proporti... ORPHA:133
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Failur... ORPHA:277
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated bronchoalveolar lavage fluid neutrophil proportion, Ground-glass opacif... OMIM:610978
Developmental And Epileptic Encephalopathy 68