| Muscular Hypertonia, Lethal |
|
Pneumonia, Hypokinesia, Death in infancy |
OMIM:254120 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Akinesia, Gait imbalance, Falls, Freezing of gait, Unsteady gait, Loss of ambulation, Short stepp... |
ORPHA:240094 |
| Arthrogryposis Multiplex Congenita 6 |
|
Akinesia, Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
| Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Hypokinesia |
OMIM:300073 |
| Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Gait disturbance, Gait ataxia |
ORPHA:98764 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Congenital Myopathy 9A |
|
Akinesia, Death in infancy |
OMIM:618822 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent otitis media |
OMIM:617585 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Gait ataxia |
ORPHA:98773 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait |
ORPHA:391411 |
| Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic atrophy, Akinesia, Truncal ataxia, Optic neuropathy, Choreoathetosis, Optic disc pallor |
OMIM:618249 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601382 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, Hypokinesia |
OMIM:618184 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Akinesia, Abnormal cranial nerve morphology, Dysdiadochokinesis, Shuffling gait, Abnormal autonom... |
ORPHA:247234 |
| Spinocerebellar Ataxia 21 |
|
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Ataxia |
OMIM:607454 |
| Fetal Akinesia Deformation Sequence |
|
Akinesia, Pulmonary hypoplasia, Hypokinesia |
ORPHA:994 |
| Congenital Myopathy 12 |
|
Pulmonary artery stenosis, Akinesia, Death in infancy |
OMIM:612540 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Abnormal autonomic nervous system physiology |
OMIM:300894 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
| Specific Granule Deficiency 1 |
|
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaire... |
OMIM:245480 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Dysdiadochokinesis, Hypokinesia, Gait disturbance |
OMIM:609161 |
| Segawa Syndrome, Autosomal Recessive |
|
Hypokinesia, Gait ataxia |
OMIM:605407 |
| Corticobasal Syndrome |
|
Akinesia, Gait disturbance |
ORPHA:454887 |
| Kufor-Rakeb Syndrome |
|
Akinesia, Ataxia, Hypokinesia, Gait disturbance |
OMIM:606693 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
| Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia, Pulmonary hypoplasia |
OMIM:253290 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... |
OMIM:616726 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia, Abnormal autonomic nervous system physiology |
OMIM:616840 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... |
ORPHA:320401 |
| Perry Syndrome |
|
Akinesia, Short stepped shuffling gait |
OMIM:168605 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia, Pulmonary hypoplasia, Hypokinesia, Neonatal death |
OMIM:608013 |
| Manganese Poisoning |
|
Akinesia, Gait disturbance |
ORPHA:306682 |
| Immunodeficiency 18 |
|
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ... |
OMIM:615615 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Hypokinesia |
OMIM:620007 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
| Postencephalitic Parkinsonism |
|
Diminished movement, Akinesia |
ORPHA:97349 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Hypokinesia |
OMIM:300816 |
| Spinocerebellar Ataxia Type 12 |
|
Gait disturbance, Unsteady gait, Ataxia, Limb dysmetria, Hypokinesia |
ORPHA:98762 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Akinesia, Gait imbalance, Falls |
ORPHA:240071 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent otitis media, Lymphopenia |
OMIM:615401 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia, Death in childhood |
OMIM:619147 |
| Ciliary Dyskinesia, Primary, 21 |
|
Bronchiectasis, Recurrent pneumonia, Atelectasis |
OMIM:615294 |
| Myasthenic Syndrome, Congenital, 10 |
|
Fatigable weakness, Bulbar palsy, Gowers sign, Waddling gait, Axial muscle weakness, Respiratory ... |
OMIM:254300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Recurrent respiratory infections, Hypokinesia |
OMIM:619063 |
| Developmental And Epileptic Encephalopathy 37 |
|
Choreoathetosis, Hypokinesia, Gait disturbance |
OMIM:616981 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Hypokinesia |
OMIM:249650 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:619466 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Hypokinesia |
ORPHA:238329 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:615872 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Hypokinesia |
OMIM:610498 |
| Immunodeficiency 52 |
|
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... |
OMIM:617514 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Aceruloplasminemia |
|
Limb ataxia, Akinesia, Ataxia, Gait ataxia |
ORPHA:48818 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Splenomegaly, Lymphopenia, Autoimmune thromb... |
ORPHA:444463 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Optic atrophy, Hypokinesia, Death in infancy |
OMIM:615042 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Facial palsy, Hypokinesia, Difficulty walking |
ORPHA:171433 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Optic atrophy, Hypokinesia, Facial palsy, Ataxia |
OMIM:614707 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses |
OMIM:617519 |
| Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Shuffling gait, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:411602 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
| Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Optic disc pallor, Death in infancy |
OMIM:618947 |
| Immunodeficiency 13 |
|
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv... |
OMIM:615518 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Bilateral facial palsy, Bronchiolitis, Loss of ambulation, Pulmonary fibrosis |
ORPHA:254361 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Facial palsy, Pleural effusi... |
OMIM:612387 |
| Idiopathic Bronchiectasis |
|
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... |
ORPHA:60033 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
| Bronchopulmonary Dysplasia |
|
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis |
ORPHA:70589 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... |
OMIM:610921 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia |
ORPHA:859 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Progressive sensorineur... |
ORPHA:494444 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... |
ORPHA:79127 |
| Dpagt1-Cdg |
|
Optic atrophy, Akinesia, Inability to walk, Diffuse optic disc pallor, Pulmonary hypoplasia, Ataxia |
ORPHA:86309 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Hypokinesia |
OMIM:609060 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Difficulty walking, Atelectasis, Broad-based gait, Elevated bronchoalveolar lavage fluid lymphocy... |
OMIM:610978 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... |
OMIM:617780 |
| Familial Nasal Acilia |
|
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections |
ORPHA:922 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Diminished movement |
ORPHA:240103 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... |
OMIM:601596 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis |
OMIM:604571 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Hypokinesia, Gait ataxia |
ORPHA:101150 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Decreased proportion of CD8-positive T cells... |
OMIM:619802 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Chronic bronchitis, Panacinar emphysema |
OMIM:613490 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Akinesia, Gait disturbance, Ataxia, Choreoathetosis |
OMIM:234200 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent otitis media, Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatospl... |
OMIM:618986 |
| Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Gait imbalance, Falls |
OMIM:609454 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
| Acute Interstitial Pneumonia |
|
Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening, Pulmonary fibrosis... |
ORPHA:79126 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... |
ORPHA:52368 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... |
ORPHA:169154 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... |
OMIM:619846 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... |
ORPHA:2302 |
| C1Q Deficiency 2 |
|
Bronchiectasis, Atelectasis, Recurrent lower respiratory tract infections |
OMIM:620321 |
| Huntington Disease |
|
Difficulty walking, Inability to walk, Gait imbalance, Gait disturbance, Hypokinesia |
ORPHA:399 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Gait imbalance, Falls |
OMIM:601104 |
| Huntington Disease-Like 1 |
|
Gait disturbance, Hypokinesia, Dysmetria, Gait ataxia |
ORPHA:157941 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Inability to walk, Ataxia, Hypokinesia, Broad-based gait |
OMIM:617854 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Tracheobronchopathia Osteochondroplastica |
|
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections |
ORPHA:3348 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Hip flexor weakness, Fatigable weakness of respiratory muscles, Ankle weakness, Facial palsy, Upp... |
ORPHA:98913 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Ataxia, Hypokinesia |
OMIM:616211 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Emphysema |
ORPHA:1164 |
| Infantile Dystonia-Parkinsonism |
|
Hypokinesia |
ORPHA:238455 |
| Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia, Facial diplegia, Facial palsy, Hypokinesia |
ORPHA:171430 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Recurrent otitis media, Lymphopenia, T lymphocytopenia |
ORPHA:277 |
| Hemochromatosis, Type 3 |
|
Neutropenia, Anemia, Lymphopenia |
OMIM:604250 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Atelectasis, Death in infancy |
OMIM:300219 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Vestibular areflexia, Hypochromic microcytic anemia, Absent brainstem auditory ... |
ORPHA:3240 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Recurrent otitis media |
OMIM:266265 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... |
OMIM:610532 |
| Bronchogenic Cyst |
|
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst |
ORPHA:2357 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... |
OMIM:226990 |
| Recurrent Respiratory Papillomatosis |
|
Abnormal lung morphology, Recurrent pneumonia, Atelectasis, Recurrent upper respiratory tract inf... |
ORPHA:60032 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Chronic otitis media, Abnormal neutrophil count, Sensorineural hearing impairment... |
ORPHA:3226 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:619260 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in childhood, Hypokinesia, Death in infancy |
OMIM:613320 |
| African Trypanosomiasis |
|
Akinesia, Difficulty walking, Miscarriage, Gait disturbance, Papilledema, Choreoathetosis |
ORPHA:3385 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
| Typical Nemaline Myopathy |
|
Facial diplegia, Waddling gait, Facial palsy, Gait disturbance, Hypokinesia |
ORPHA:171436 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... |
ORPHA:206443 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Intraalveolar phospholipid accumulation, Death in infancy, Neonatal death, Interlobular septal th... |
OMIM:265120 |
| Hypermanganesemia With Dystonia 2 |
|
Tip-toe gait, Inability to walk, Scissor gait, Gait disturbance, Hypokinesia |
OMIM:617013 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:620481 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Gait disturbance, Gait ataxia, Loss of ambulation, Hypokinesia |
OMIM:600116 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia |
ORPHA:529799 |
| Pgm3-Cdg |
|
Chronic otitis media, Decreased proportion of CD3-positive T cells, Neutropenia in presence of an... |
ORPHA:443811 |
| German Syndrome |
|
Hypokinesia |
ORPHA:2077 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypokinesia |
ORPHA:35708 |
| Myopathy, Centronuclear, X-Linked |
|
Facial palsy, Hypokinesia |
OMIM:310400 |
| Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis |
OMIM:618913 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Pleural effusion, Hypersensitivity pneumonitis, Atelectasis |
ORPHA:2902 |
| Primary Ciliary Dyskinesia |
|
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Recurrent sinopulmonary infec... |
ORPHA:244 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Neutropenia, Lymphopenia |
OMIM:620443 |
| Parkinson Disease 1, Autosomal Dominant |
|
Loss of ambulation, Shuffling gait, Hypokinesia, Gait disturbance |
OMIM:168601 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Otitis media, Lymphopenia, Eosi... |
ORPHA:169160 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... |
ORPHA:760 |
| Infantile Krabbe Disease |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
| Mogs-Cdg |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... |
ORPHA:79330 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Posteriorly rotated ears, Lymphopenia, Hemo... |
OMIM:301110 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Otitis media, Decreased eosinophi... |
ORPHA:2686 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Inability to walk, Recurrent lower respiratory tract infections, Facial palsy, Hypok... |
ORPHA:258 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time |
OMIM:616881 |
| Alg11-Cdg |
|
Ataxia, Hypokinesia |
ORPHA:280071 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Recurrent bronchitis, Atelectasis, Bronchiectasis |
OMIM:244400 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Diminished movement, Athetosis, Choreoathetosis |
OMIM:608643 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
| Hyperekplexia 1 |
|
Hypokinesia |
OMIM:149400 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections |
OMIM:242700 |
| Herpes Simplex Virus Encephalitis |
|
EEG abnormality, Neutrophilia, Leukocytosis |
ORPHA:1930 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Anemia, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnorma... |
ORPHA:90321 |
| Poliomyelitis |
|
Diminished movement, Inability to walk, Abnormal motor nerve conduction velocity |
ORPHA:2912 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Otitis media, Lymphopenia, Abnormally low... |
OMIM:602450 |
| Hypophosphatasia |
|
Emphysema |
ORPHA:436 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... |
ORPHA:99027 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... |
ORPHA:276 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Relapsing Fever |
|
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia |
ORPHA:91547 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... |
ORPHA:101085 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... |
OMIM:620233 |
| Icf Syndrome |
|
Low-set ears, Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
| Hypocomplementemic Urticarial Vasculitis |
|
Pleural effusion, Emphysema, Ataxia |
ORPHA:36412 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Bronchitis, Emphysema |
ORPHA:60 |
| Whim Syndrome |
|
Limb ataxia, Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recur... |
ORPHA:51636 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi... |
OMIM:618935 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, B lymphocytopenia, Reticulocytopenia, Hearing impairment, Leukopenia, Thrombocytopenia, L... |
ORPHA:508542 |
| Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla |
OMIM:619632 |
| Lymphangioleiomyomatosis |
|
Optic atrophy, Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothora... |
ORPHA:538 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... |
ORPHA:909 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytop... |
OMIM:600802 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in childhood, Emphysema, Atelectasis, Death in infancy, Recurrent pneumonia, Pulmonary hypo... |
OMIM:613177 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Anemia, Erythroid hypoplasia, Sensorineural hearing impairment, Hypoplasia of t... |
OMIM:612541 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Recurrent respiratory infections, Atelectasis |
ORPHA:2314 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Facial palsy, Gait disturbance, Gait ataxia, Ataxia, Hypokinesia |
ORPHA:254892 |
| Trisomy 10P |
|
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... |
ORPHA:171929 |
| Cockayne Syndrome B |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:133540 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, Pulmonary hypoplasia, Ataxia, Bronchiectasis, Interstitial emphysema, Dysmetria |
OMIM:619708 |
| Cockayne Syndrome A |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:216400 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Neutrophilia, Brain abscess |
ORPHA:54251 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Emphysema |
ORPHA:634 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
| Farber Disease |
|
Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract infections |
ORPHA:333 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Acute otitis media, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia... |
ORPHA:35078 |
| Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia |
ORPHA:293173 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphopenia |
OMIM:617827 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis,... |
OMIM:615067 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Short-Rib Thoracic Dysplasia 12 |
|
Pulmonary hypoplasia, Neonatal death, Atelectasis |
OMIM:269860 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... |
OMIM:102700 |
| Common Variable Immunodeficiency |
|
Emphysema, Recurrent bronchitis, Bronchiectasis, Pneumonia, Recurrent respiratory infections |
ORPHA:1572 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Pulmonary hypoplasia, Atelectasis, Peripapillary atrophy, Repeated pneumothoraces |
ORPHA:536467 |
| Danon Disease |
|
Hypokinesia |
OMIM:300257 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Inability to walk, Atelectasis, Pulmonary hypoplasia, Pulmonary artery atresia |
OMIM:620371 |
| Congenital Tracheomalacia |
|
Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous... |
ORPHA:95430 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Death in childhood, Atelectasis, Pulmonary fibrosis |
OMIM:618278 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:219100 |
| Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... |
OMIM:620565 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Impaired lymphocyte transformation with phyt... |
OMIM:301000 |
| Zygomycosis |
|
Pneumothorax, Atelectasis, Abnormal cranial nerve morphology, Acute infectious pneumonia, Pleural... |
ORPHA:73263 |
| Rat-Bite Fever |
|
Diminished movement |
ORPHA:31205 |
| Lujo Hemorrhagic Fever |
|
Atelectasis |
ORPHA:319213 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
| Chand Syndrome |
|
Atelectasis, Ataxia |
ORPHA:1401 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated bronchoalveolar... |
OMIM:181000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Inability to walk, Respiratory tract infection, Atelectasis, Difficulty walking |
ORPHA:365 |
| Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Emphysema |
OMIM:614816 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:123700 |
| Granulomatous Disease, Chronic, X-Linked |
|
Pleural effusion, Recurrent pneumonia, Atelectasis |
OMIM:306400 |
| Isolated Posterior Meningocele |
|
Difficulty walking, Hypokinesia |
ORPHA:268810 |
| Wilson Disease |
|
Decreased nerve conduction velocity, Hypokinesia |
OMIM:277900 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothorax, Recu... |
OMIM:130050 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Atelectasis, Death in infancy |
ORPHA:534 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema |
ORPHA:90349 |
| 22Q11.2 Deletion Syndrome |
|
Optic atrophy, Aganglionic megacolon, Atelectasis, Abnormal lung lobation |
ORPHA:567 |
| Meier-Gorlin Syndrome 1 |
|
Emphysema, Death in infancy |
OMIM:224690 |
| Keutel Syndrome |
|
Emphysema, Recurrent bronchitis, Miscarriage, Pulmonary artery hypoplasia, Peripheral pulmonary a... |
OMIM:245150 |
| Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Emphysema |
OMIM:616835 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Death in childhood, Emphysema, Neonatal death, Pulmonary artery dilata... |
OMIM:614437 |
| Nocardiosis |
|
Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pneumonia |
ORPHA:31204 |
| Ellis Van Creveld Syndrome |
|
Emphysema, Aplasia/Hypoplasia of the lungs |
ORPHA:289 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormality of the pulmonary artery, Emphysema |
ORPHA:363618 |
| Sarcoidosis |
|
Pneumothorax, Emphysema, Chylothorax, Facial palsy, Pleural effusion, Abnormal lung morphology, A... |
ORPHA:797 |
| Fabry Disease |
|
Optic atrophy, Emphysema |
ORPHA:324 |
| Neonatal Marfan Syndrome |
|
Emphysema |
ORPHA:284979 |
| Marfan Syndrome |
|
Pneumothorax, Pulmonary artery dilatation, Emphysema |
OMIM:154700 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Abnormal pulmonary interstitial morphology, Emphysema |
OMIM:613658 |
| Relapsing Polychondritis |
|
Atelectasis |
ORPHA:728 |
| Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema, Bronchiolitis |
ORPHA:90348 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax |
ORPHA:558 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Emphysema, Unilateral lung agenesis |
ORPHA:500150 |
| Digeorge Syndrome |
|
Recurrent pneumonia, Recurrent sinusitis, Atelectasis |
OMIM:188400 |
| Viss Syndrome |
|
Pneumothorax, Pulmonary artery aneurysm, Emphysema |
OMIM:619472 |
| Proteus Syndrome |
|
Abnormal lung lobation, Bronchogenic cyst, Pulmonary bulla, Neoplasm of the lung, Pulmonary cyst |
ORPHA:744 |
| Sotos Syndrome |
|
Aganglionic megacolon, Small cell lung carcinoma, Pulmonary bleb |
ORPHA:821 |
| Fetal Akinesia Deformation Sequence 3 |
|
|
OMIM:618389 |
