Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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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

10 Images

X-ray

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
phenotypes
Matching phenotypes Source
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Small ... 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
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... 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
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:607271
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
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
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Seizure, Dysto... OMIM:614561
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:619707
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... 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
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly ORPHA:2274
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... OMIM:618944
Immunodeficiency 15B
Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level OMIM:615592
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:613502
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:300400
Spastic Ataxia-Corneal Dystrophy Syndrome
Hemiplegia/hemiparesis, Ataxia, Decreased circulating antibody level, Spastic ataxia ORPHA:2572
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Abnormality of the lymphatic system, Arrhyt... ORPHA:1041
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM OMIM:613500
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... OMIM:613490
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hepatomegaly, Hypoxe... OMIM:612387
Cerebellar Ataxia And Albinism
Ataxia, Head tremor, Albinism OMIM:258300
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300861
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure OMIM:616921
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:612692
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor OMIM:612437
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... ORPHA:90064
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Abnormal cardiovascular sy... ORPHA:50251
Immunodeficiency 18
Defective T cell proliferation OMIM:615615
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Seizure OMIM:616187
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Failure to thrive OMIM:613501
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:619824
Ceroid Lipofuscinosis, Neuronal, 9
Ataxia, Loss of ambulation, Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy OMIM:609055
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Seizure, P... OMIM:606777
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Decreased circulating IgG2 level, Neonatal death, Small for gestational age OMIM:300076
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Abno... OMIM:162350
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia OMIM:611092
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Porphyria, Acute Hepatic
Failure to thrive, Respiratory paralysis, Hemolytic anemia, Paralysis, Paresthesia OMIM:612740
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegal... OMIM:267700
Classic Glucose Transporter Type 1 Deficiency Syndrome
Status epilepticus, Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea... ORPHA:71277
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Intention tremor, Hypocholesterolemia, Anemia, Thrombocytopenia, Hype... OMIM:610539
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Spasticity, Abnormal pattern of respirat... ORPHA:77260
Hypobetalipoproteinemia, Familial, 1
Ataxia, Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentr... OMIM:615558
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating antibody ... OMIM:618969
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Atonic seizure, Myoclonus, Tremor, Difficulty walking, Bilateral toni... OMIM:614018
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Ataxia, Hepatomegaly, Hemiplegia/hemiparesis, Splenomegaly, Cerebral palsy, C... ORPHA:36412
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Peripheral axonal neuropathy, Hypoalbuminemia, Hypercholesterolemia, Steppage gait OMIM:607250
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebral palsy, Decreased circulating IgG level, Spasticity OMIM:618973
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia, Premature graying of hair OMIM:190200
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... OMIM:618587
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Arrhythmia, Head tremor, Gait disturbance, Writer's cramp... OMIM:614860
Mogs-Cdg
Respiratory distress, Apnea, Hirsutism, Pulmonary edema, Hepatomegaly, Fair hair, Alopecia, Left ... ORPHA:79330
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Dyst... OMIM:104290
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Maternal Uniparental Disomy Of Chromosome 4
Sensorineural hearing impairment, Ataxia, Rod-cone dystrophy, Dysmetria, Abetalipoproteinemia, El... ORPHA:96180
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Myocardial infarction, Paralysis, Respiratory... ORPHA:132
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Seizure OMIM:141500
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Par... ORPHA:53583
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hepatomegaly, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizu... OMIM:615924
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure OMIM:619561
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Tremor, Seizure, Cardiac arrest OMIM:618951
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619281
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Progressive gait ataxia ORPHA:209004
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegal... OMIM:603553
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Dysto... OMIM:618924
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Tremor, Ataxia OMIM:619099
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait disturbance, Tremor, ... OMIM:618090
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function OMIM:615362
Immunodeficiency 61
Agammaglobulinemia, Obesity OMIM:300310
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... ORPHA:251282
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Tremor, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Bilateral toni... ORPHA:100988
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Progressiv... ORPHA:240103
Sneddon Syndrome
Hemiplegia, Tremor, Decreased circulating total IgM OMIM:182410
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Decreased number of large peripheral myelinated nerve fibers, Limb at... OMIM:208920
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... ORPHA:79262
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Ataxia, Increased level of D-threitol in plasma, Elevated circulating ribitol conc... OMIM:608611
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... ORPHA:167
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Splenomegaly, Distal sensory impairment, Frequent falls, Tremor, Gait ataxi... OMIM:616719
Alg6-Cdg
Ataxia, Retinal degeneration, Rod-cone dystrophy, Decreased LDL cholesterol concentration, Hypoal... ORPHA:79320
Sandhoff Disease
Failure to thrive, Ataxia, Hepatomegaly, Splenomegaly, Seizure, Congestive heart failure ORPHA:796
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity OMIM:278780
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Myoclonic seizure, Chorea, Epileptic spasm, Bilateral tonic-clonic s... OMIM:616139
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosi... OMIM:616230
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Myoclonus, Writer's cramp, Tremor, Seizure, Focal-onset seizure,... OMIM:608105
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol co... ORPHA:247585
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, ... OMIM:616981
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... OMIM:204300
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor, Difficulty walking, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... OMIM:300423
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Seizure, ... OMIM:614947
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia ORPHA:94124
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... OMIM:617836
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, E... OMIM:226300
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... OMIM:600363
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Decreas... OMIM:616959
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Failure to thrive in infancy, Bilateral tonic... OMIM:619065
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Chorea, ... ORPHA:382
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic atrophy, Optic disc pallor, Difficulty walking, Hearing impai... OMIM:617087
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Retinal hemorrha... ORPHA:86839
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Frequent falls, Tremor, Cardiomyopathy, Dystonia OMIM:619647
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly, Myoclonus, Bilateral tonic-clonic seizure, Dystonia ORPHA:139406
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy, Abnormal oral glucose tolerance OMIM:311100
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, EEG abnormality, Optic atrophy, Hearing impairment, Chorioretinal coloboma ORPHA:2732
Ovarian Hyperstimulation Syndrome
Hirsutism, Pulmonary edema, Enlarged polycystic ovaries, Hypovolemia, Peripheral edema, Pleural e... ORPHA:64739
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia OMIM:269840
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Dysdiadochokinesis, Spastic ataxia OMIM:108650
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Rabies
Cerebral palsy, Sudden cardiac death, Vocal cord paresis, Seizure, Paresthesia ORPHA:770
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... ORPHA:36387
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Bilateral ... OMIM:618093
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Seizure OMIM:617862
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Hepatomegaly, Chronic pulmonary obstruction, Tricuspid re... ORPHA:2414
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Lujo Hemorrhagic Fever
Respiratory distress, Facial edema, Lymphopenia, Leukocytosis, Resting tremor, Nonproductive coug... ORPHA:319213
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Dy... ORPHA:98810
Dengue Fever
Hepatomegaly, Hypoproteinemia, Leukopenia, Thrombocytopenia, Lethargy ORPHA:99828
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Cardiomyopathy, Dystonia OMIM:619651
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619510
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Seizure, Reticulocytosis, Dystonia OMIM:612126
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Inabi... ORPHA:2590
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:618805
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Hyperglycinemia, Spastic ataxia, Gait disturbance OMIM:616859
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... OMIM:616843
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Ataxia, Decreased circulating IgG level, Decr... OMIM:275350
Familial Dyskinesia And Facial Myokymia
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Difficulty walking, Dilated cardiomyopathy, D... ORPHA:324588
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Progressive sensorineural hearing impairment OMIM:165199
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Decreased proportion of CD3-positive T cells, Abnormal lymphati... ORPHA:90362
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Clumsiness, Focal hemiclo... ORPHA:725
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... ORPHA:98763
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Small for gestational age, Bilateral tonic-clon... OMIM:245570
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... OMIM:619317
Wolfram-Like Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Type II diabetes mellitus, Progressive hearing impairment, Impa... OMIM:614296
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Atonic seizure, Extrapyramidal muscular rigidity, Dysmetria, Le... ORPHA:93952
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... OMIM:613855
Senior-Loken Syndrome 4
Anemia, Rod-cone dystrophy, Polydipsia OMIM:606996
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatomegaly, Jaundice, Emphysema ORPHA:60
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Reduced delayed hypersensitivity, Increased circulating IgM level, Red... OMIM:617241
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... OMIM:612736
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Falls, Bilateral tonic-clonic seizure, Generalized non-motor (abse... ORPHA:139426
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:618394
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Bilateral tonic-clonic seizure OMIM:619191
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... OMIM:261640
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis OMIM:606183
Benign Familial Infantile Epilepsy
Status epilepticus, Hypertonia, Focal motor seizure, Focal impaired awareness seizure, Generalize... ORPHA:306
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, A... OMIM:209950
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Clonic seizure, Tonic seizure, Stereotypical hand wringing, ... OMIM:618917
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence... ORPHA:79137
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Dehydration, C... ORPHA:79312
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidi... OMIM:619911
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Lowe... OMIM:619028
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Status epilepticus, Ataxia, Action tremor, Focal motor seizure, Poor coordinati... OMIM:617665
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia OMIM:619013
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... OMIM:617113
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor OMIM:616710
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytop... ORPHA:507
Riddle Syndrome
Ataxia, Decreased circulating IgG level OMIM:611943
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis, Distal sensory impairment OMIM:613710
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Optic disc pallor, Elevated circulating creatine kinase con... OMIM:268040
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... OMIM:610245
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Unst... OMIM:616409
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia, Pneumonia OMIM:254120
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... OMIM:612561
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure OMIM:612016
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Hypoproteinemia, Dextrocard... ORPHA:2315
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular ar... OMIM:610476
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... ORPHA:2169
Immunodeficiency, Common Variable, 11
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Spastic tetraplegia OMIM:613721
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Gait ataxia, Bilateral t... OMIM:617810
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Abetalipoproteinemia
Ataxia, Hepatomegaly, Steatorrhea, Reticulocytosis, Cardiomegaly, Hypopigmentation of the fundus,... ORPHA:14
Cerebral Cavernous Malformations 3
Paralysis, Cerebral hemorrhage, Seizure OMIM:603285
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... ORPHA:64753
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus, Abn... OMIM:242700
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Limb fasciculations, Distal sensory impairment, Cough, Respiratory failure ... ORPHA:90117
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Failure to thrive, Ataxia, Inability to walk, Infantile spasms, Generalized m... OMIM:619701
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, EEG abnormality, Retinal dystrophy OMIM:614706
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema, Hypertrichosis OMIM:271225
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Hypoketotic hy... ORPHA:26793
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Spasticity OMIM:607624
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Inability to walk OMIM:618572
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypertonia, Failure to thrive, Cardiomyopathy, Hepatic steatosis, Dystonia ORPHA:26792
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy, Loss of ambulation OMIM:615658
Hypophosphatasia
Anemia, Respiratory insufficiency, Failure to thrive in infancy, Emphysema ORPHA:436
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment, Tremor OMIM:165300
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Hepatomegaly, Rod-cone dystrophy, Steatorrhea, Retinal dystroph... OMIM:266510
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Lower limb spasticity, Inability to walk OMIM:619639
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Eisenmenger Syndrome
Respiratory distress, Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Heart murmur, P... ORPHA:97214
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
X-Linked Immunoneurologic Disorder
Hypertonia, Decreased circulating IgG2 level, Hemiplegia/hemiparesis ORPHA:2571
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:261630
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Emphysema OMIM:210050
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hepatomegaly, Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy,... OMIM:617303
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Ataxia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypoal... OMIM:617575
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Cardiomegaly, Tracheomala... ORPHA:95430
Alpha-Methylacyl-Coa Racemase Deficiency
Status epilepticus, Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity, Seizure, Focal-ons... OMIM:614307
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Failu... ORPHA:331206
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Spastic ataxia OMIM:613672
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Polyhydramnios, Dilated cardiomyopathy, Respiratory ... OMIM:300580
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Respiratory tract infec... ORPHA:567546
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, H... ORPHA:2070
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity OMIM:616494
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walkin... ORPHA:477673
Nipah Virus Disease
Respiratory distress, Myoclonus, Hypotension, Cough, Tremor, Recurrent pharyngitis ORPHA:99825
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Bil... ORPHA:726
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Bilateral tonic-clonic seizure OMIM:269720
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Optic Atrophy 5
Optic atrophy OMIM:610708
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Bradykines... ORPHA:240085
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... OMIM:615513
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... OMIM:263000
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance OMIM:210000
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Rigidity, Falls, Gait ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Dystonia OMIM:203740
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Protruding ear, Optic nerve hypoplasia, Ventricular septal def... ORPHA:261250
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619752
Rosaï-Dorfman Disease
Paraplegia, Dysgammaglobulinemia ORPHA:158014
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Ataxia, Sideroblastic anemia, Atrial septal defect, Retinal deg... OMIM:249270
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, ... ORPHA:100057
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Hypopigmentation of hair, Rigidity, Tremor, Spasticity, Seizure, Premature gr... ORPHA:33445
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis OMIM:604571
Netherton Syndrome
Sparse scalp hair, Asthma, Sparse eyebrow, Sparse eyelashes, Dehydration, Trichorrhexis nodosa, F... ORPHA:634
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Vocal cord paralysis ORPHA:640
Immunodeficiency 46
Failure to thrive, Decreased circulating antibody level OMIM:616740
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Common Variable Immunodeficiency
Abnormality of the liver, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Vasculitis, Fai... ORPHA:1572
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Hemiplegia, Decreased circulating total IgM, Increased circulating IgE level, Increased circulati... OMIM:243700
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Involuntary movements, Tongue fasciculations ORPHA:238329
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:616100
Bardet-Biedl Syndrome 9
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Polyp... OMIM:615986
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... OMIM:618534
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Dilated cardiomyopathy, Choreoathetosis, Invo... OMIM:606703
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Increased body weight, Hypotension, Hemolytic anemia, Decre... ORPHA:244242
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia OMIM:601457
Castleman Disease
Decreased mean corpuscular volume, Restrictive cardiomyopathy, Follicular hyperplasia, Mediastina... ORPHA:160
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Acute infectious pneumonia, Ta... ORPHA:264675
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Optic atrophy, Choreoathetos... ORPHA:27
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Chorioretinal atrophy, Hepatosplenomegaly, Left ventricular hypertrophy, Pericardit... OMIM:619487
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Hepatomegaly, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemi... OMIM:608104
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Decreased DLCO, Emphysema, Hypertension, Pulmonary fibrosis OMIM:618913
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase c... OMIM:615895
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Diaphragmatic paralysis, Rest... OMIM:614399
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... OMIM:619725
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Blepharospasm, Laryngeal dystonia, Eunuchoid habitus, Dysdiado... ORPHA:98805
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Retinal degeneration, Limb ataxia, Optic atrophy, Gait ataxia OMIM:614322
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Motor stereotypy OMIM:616341
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait OMIM:618387
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Optic neuritis, Bradykinesia, Action tremor, Facial palsy, Elevated circulating creatine ... ORPHA:254886
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Megaloblastic anemia, Atrial septal defect, Retinal dystrophy, ... ORPHA:49827
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Hyperammonemia, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopen... ORPHA:289916
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea OMIM:267450
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Chylomicron Retention Disease
Retinopathy, Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... ORPHA:71517
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Type II diabetes mellitus, Retinal degeneration, Pigmentary ret... OMIM:520000
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Familial Hemophagocytic Lymphohistiocytosis