Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Depression, Attention deficit hyperactivity disorder |
OMIM:613003 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Impaired social interactions, Inability to walk |
OMIM:606053 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Shyness |
OMIM:618221 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... |
ORPHA:280397 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships |
OMIM:300425 |
Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608636 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Hypertonia, Spasticity, Aggressive behavior, Impaired social interactions, Slurred speech |
OMIM:618103 |
Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Inability to walk, Poor eye contact, Self-injurious behavior, Involuntary movem... |
OMIM:617820 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Hypertonia, Myoclonus, Cyanotic episode, Death in infancy |
OMIM:610992 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Hepatojugular ... |
ORPHA:2302 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... |
OMIM:254210 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Normal interictal EEG, Cyanosis |
OMIM:607745 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Joubert Syndrome 33 |
|
Apnea, Ataxia, Molar tooth sign on MRI, Oculomotor apraxia |
OMIM:617767 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Ravine Syndrome |
|
Apnea, Ataxia, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Spast... |
ORPHA:99852 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Impaired social interactions |
OMIM:617051 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular failure, Abnormal r... |
ORPHA:70589 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Normal interictal EEG, Cyanosis |
OMIM:601764 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... |
ORPHA:2004 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... |
OMIM:605809 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... |
OMIM:253240 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Poor eye contact, Myoclonus, Anxiety, Tremor, Dystonia |
OMIM:619651 |
Perching Syndrome |
|
Dysphagia, Respiratory distress |
OMIM:617055 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships |
OMIM:300495 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Failure to thrive, Poor eye contact, Tetraparesis |
OMIM:608097 |
Pulmonary Blastoma |
|
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea |
ORPHA:64741 |
Ciliary Dyskinesia, Primary, 29 |
|
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... |
OMIM:615872 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... |
OMIM:615294 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... |
ORPHA:60032 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... |
OMIM:265120 |
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome |
|
Gait imbalance, Broad-based gait, Clumsiness, Poor eye contact, Tip-toe gait, Involuntary movemen... |
ORPHA:468620 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Pulmonary infiltrates, Hypoxemia, Nodular pattern on pulmonary HR... |
ORPHA:79126 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Pulmonary edema, Cyanosis, Tachycardia, Hypotension, Tachypnea, Atelectasis, Pneu... |
ORPHA:70587 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Obesity, Poor eye contact |
OMIM:613886 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Atelect... |
ORPHA:70588 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Cyanosis, Myoclonus, Hemiparesis, Chorea, Central ... |
ORPHA:71277 |
Gilles De La Tourette Syndrome |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation |
OMIM:137580 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte... |
OMIM:619751 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Atelectasis, Recurrent bro... |
OMIM:616726 |
Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus, Central apnea, Respiratory failure requiring assisted ventilation, Olivopo... |
ORPHA:166063 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Impaired social interactions, Hyperkinetic movements, Stereotypical hand... |
ORPHA:397933 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... |
OMIM:619466 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... |
ORPHA:91359 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Hypsarrhythmia |
OMIM:616341 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... |
ORPHA:280763 |
Laryngeal Abductor Paralysis |
|
Dysphagia, Cyanosis, Stridor |
OMIM:150260 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Happy demeanor, Ataxia, Decreased body weight, Poor eye contact, Inability to w... |
OMIM:617695 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Dopa-Responsive Dystonia |
|
Agoraphobia, Inability to walk, Abnormal social behavior, Tremor, Difficulty walking, Emotional l... |
ORPHA:255 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... |
ORPHA:2902 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Apnea, Fatigable weakness |
OMIM:614198 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Apnea, Hypertonia, Respiratory insufficiency, Myoclonus, Clonus |
OMIM:617290 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Hyperactivity, Polymicrogyria, Lissencephaly, Aggressive behavior, Abnor... |
OMIM:604317 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... |
OMIM:615067 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... |
OMIM:267450 |
Developmental And Epileptic Encephalopathy 40 |
|
Poor eye contact, Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Spastic tetr... |
OMIM:617065 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Ataxia, Inability to walk, Poor eye contact, Tetraparesis, Spasticity, Tongue ... |
OMIM:618276 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Developmental And Epileptic Encephalopathy 15 |
|
Poor eye contact |
OMIM:615006 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Pulmonary infiltrates, Hypoxemia, ... |
OMIM:610978 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Decreased body weight, Self-mutilation, Truncal ataxia, Unsteady gait |
OMIM:614063 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis, Chronic sinusitis |
OMIM:300455 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Foxg1 Syndrome |
|
Motor stereotypy, Decreased body weight, Poor eye contact, Inability to walk, Myoclonus, Hyperkin... |
ORPHA:561854 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Apnea, Death in infancy |
OMIM:618235 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dysphagia, Abnormal respiratory system physiology,... |
ORPHA:50251 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... |
ORPHA:1302 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity, Irritability |
OMIM:617393 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Poor eye contact, Hyperactivity, Tremor, Aggressive behavior, Spasticity |
OMIM:300983 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Poor eye contact, Hand apraxia, Pill-rolling tremor, Panic... |
ORPHA:3095 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... |
ORPHA:391417 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Hypertonia, Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure |
OMIM:611722 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Gaucher Disease Type 2 |
|
Dysphagia, Abnormal pattern of respiration, Respiratory distress, Cough |
ORPHA:77260 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness |
OMIM:618010 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... |
ORPHA:199241 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno... |
OMIM:265450 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608049 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Rigidity, Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
OMIM:173590 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:176860 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Impaired social interactions, No social interaction |
ORPHA:329249 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Chronic bronchitis, Nonproducti... |
ORPHA:79127 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... |
ORPHA:1303 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Atelectasis... |
ORPHA:922 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
Leukodystrophy, Hypomyelinating, 4 |
|
Progressive spasticity, Apnea, Choreoathetosis, Babinski sign |
OMIM:612233 |
Developmental And Epileptic Encephalopathy 67 |
|
Gait disturbance, Poor eye contact, Athetosis |
OMIM:618141 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Aggressive behavior, Paroxysmal dyski... |
OMIM:619150 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... |
ORPHA:264675 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature |
OMIM:618160 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior |
OMIM:617270 |
Developmental And Epileptic Encephalopathy 44 |
|
Failure to thrive, Poor eye contact, Athetosis, Spasticity, Dystonia, Irritability |
OMIM:617132 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Ataxia, Abnormal brainstem MRI signal intensity, Respiratory insufficiency, Tetraparesis, Spastic... |
ORPHA:263410 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Attention deficit hyperactivi... |
OMIM:613670 |
Myoclonus, Intractable, Neonatal |
|
Apnea, Myoclonus, Chorea, Athetosis, Dysphagia |
OMIM:617235 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Ataxia, Dysmetria, Central hypoventilation, Dysphagia, Respiratory failure |
OMIM:618233 |
Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Death in childhood, Atrophy/Degeneration affecting the brainstem, Upper limb spasticity, L... |
OMIM:611523 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Aspiration pneumonia, Respiratory failure requiri... |
ORPHA:90117 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Ataxia, Respiratory insufficiency, Rigidity, Neonatal death, Spasticity, Respiratory failure |
OMIM:610127 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Atrophy/Degeneration affecting the brainstem, Spasticity, Death in infancy, Respiratory fa... |
OMIM:616277 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis |
OMIM:619470 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... |
ORPHA:724 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Ground-glass opacification, Elev... |
OMIM:619611 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Bronchitis, Atelectasis, Upper airway obstruction, Pneumonia... |
ORPHA:3348 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait atax... |
OMIM:609425 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Atrophy/Degeneration affecting t... |
OMIM:616230 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... |
ORPHA:98755 |
Idiopathic Pulmonary Fibrosis |
|
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... |
ORPHA:2032 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Abnormal motor nerve conduction velocity, Restri... |
OMIM:614399 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Anxiety, Pronoun reversal, ... |
OMIM:615032 |
Developmental And Epileptic Encephalopathy 27 |
|
Poor eye contact, Myoclonus, Chorea, Spasticity, Dystonia |
OMIM:616139 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... |
ORPHA:2357 |
Joubert Syndrome 7 |
|
Ataxia, Episodic tachypnea, Tachypnea, Central apnea, Neonatal breathing dysregulation, Oculomoto... |
OMIM:611560 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Peripheral axonal neuropathy |
OMIM:619099 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... |
OMIM:619738 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Right bundle branch block, Dysphagia, Exertional dyspnea, Pulmonary f... |
ORPHA:254361 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Cdkl5-Deficiency Disorder |
|
Gait disturbance, Difficulty walking, Poor eye contact, Stereotypical hand wringing |
ORPHA:505652 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Ob... |
ORPHA:444002 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Ataxia, Dystonia, Short stature |
OMIM:616113 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
Developmental And Epileptic Encephalopathy 98 |
|
Attention deficit hyperactivity disorder, Poor eye contact |
OMIM:619605 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea |
OMIM:616414 |
Benign Familial Infantile Epilepsy |
|
Apnea, Normal interictal EEG, Interictal epileptiform activity, Cyanosis |
ORPHA:306 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Developmental And Epileptic Encephalopathy 14 |
|
Poor eye contact, Spasticity, Tetraplegia, Clonus |
OMIM:614959 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis, Limb myoclonus, Clonus |
ORPHA:1949 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Myoclonus, Hypoplasia of the pons, Death in infancy, Spasticity, Dysphagia, Respirato... |
OMIM:225753 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
OMIM:610910 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... |
OMIM:234810 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, Hyperactivity, Spasticity, Aggressive behavior, Impaired social interac... |
OMIM:610042 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of neck muscles, Reduced vital capacity, Exertional dyspnea, Cyanosis, Orthopn... |
ORPHA:98913 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Childhood Disintegrative Disorder |
|
Motor stereotypy, Abnormal emotion/affect behavior, Impaired social interactions, Anxiety |
ORPHA:168782 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
Unilateral Focal Polymicrogyria |
|
EEG with frontal focal spikes, EEG with parietal focal spikes, Mental deterioration, Abnormal non... |
ORPHA:268947 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Abnormal social behavior |
ORPHA:101039 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... |
OMIM:252320 |
Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination, Aggressive... |
OMIM:309548 |
Thyroid Lymphoma |
|
Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor |
ORPHA:97285 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... |
OMIM:618218 |
Fraxe Intellectual Disability |
|
Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior |
ORPHA:100973 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Ataxia, Poor eye contact, Intention tremor, Attention deficit hyperactivity disorder, Impaired so... |
ORPHA:137831 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... |
ORPHA:412066 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Epilepsy, Progressive Myoclonic, 12 |
|
Depression, Anxiety, Attention deficit hyperactivity disorder, Mental deterioration |
OMIM:619191 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Ab... |
OMIM:612387 |
Arnold-Chiari Malformation Type Ii |
|
Paraparesis, Apnea, Ataxia, Aqueductal stenosis, Opisthotonus, Cyanosis, Abnormal medulla oblonga... |
ORPHA:1136 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Miscarriage, Pulmonary embolism |
ORPHA:82 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea, Dystonia |
OMIM:618760 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Respiratory insufficiency, Difficulty walking |
OMIM:617239 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Happy demeanor, Poor eye contact, Difficulty walking, Gait ataxia, Spasticity, ... |
OMIM:617807 |
Pulmonary Hemosiderosis |
|
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, ... |
OMIM:178550 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea, Loss of ambulation, Spasticity |
OMIM:617933 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... |
OMIM:619862 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... |
OMIM:300770 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Alg13-Cdg |
|
Decreased body weight, Clumsiness, Poor eye contact |
ORPHA:324422 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... |
OMIM:619725 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... |
ORPHA:217563 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Anxiety, Attention deficit hyperactivity disorder |
OMIM:618878 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Ataxia, Myoclonus |
OMIM:618225 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Ataxia, Respiratory insufficiency, Babinski sign, Dysphagia |
OMIM:618226 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Apneic episodes in infancy, Spasticity |
ORPHA:500545 |
Early-Onset Schizophrenia |
|
Decreased male libido, Abnormal emotion/affect behavior, Anxiety, No social interaction, Lack of ... |
ORPHA:96369 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Gait disturbance, Poor eye contact, Aggressive behavior, Emotional lability |
OMIM:615828 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Dementia |
OMIM:615483 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction |
ORPHA:100057 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Dysphagia, Apnea, Respiratory insufficiency, Oculomotor apraxia |
OMIM:618198 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m... |
OMIM:300580 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Impaired social int... |
ORPHA:544254 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Dysphagia, Ventilator depen... |
ORPHA:254875 |
Joubert Syndrome 23 |
|
Apnea, Tachypnea |
OMIM:616490 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Irritability |
ORPHA:30925 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Poor eye contact, Cerebral palsy, Chorea, Spasticity |
OMIM:618557 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Delayed social development,... |
ORPHA:208513 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior |
OMIM:619970 |
Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity, Abnormal social behavior, Upper motor neuron dysfunction |
ORPHA:530983 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Poor eye contact, Spastic tetraplegia, Dystonia, Irritability |
OMIM:618237 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Inability to walk |
OMIM:617830 |
Pontocerebellar Hypoplasia Type 2 |
|
Apnea, Hypoplasia of the brainstem, Lower limb hypertonia, Impaired oropharyngeal swallow respons... |
ORPHA:2524 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Failure to thrive, Hand-leading gestures, Recurrent hand flapping, Tics, Aggressive behavior, Att... |
OMIM:617788 |
Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
Pulmonary Alveolar Microlithiasis |
|
Ground-glass opacification, Hypoxemia, Respiratory failure, Oxygen desaturation on exertion, Inte... |
ORPHA:60025 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Hypertonia, Babinski sign, Rigidity, Myoclonic spasms, Death in infancy, Clonus |
OMIM:614498 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Recurrent hand flapping, Poor eye contact, Self-injurious behavior, Hyperactivi... |
ORPHA:449291 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... |
ORPHA:320401 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Abulia, Gait disturbance, Emotional blunting, Aggressive behavior, Fasc... |
ORPHA:275864 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Pontocerebellar Hypoplasia, Type 16 |
|
Apnea, Limb hypertonia, Hypoplasia of the pons, Spastic tetraplegia, Dysphagia, Abnormality of ex... |
OMIM:619527 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Hereditary Methemoglobinemia |
|
Hypertonia, Cyanosis, Athetosis, Spasticity, Spastic tetraplegia, Exertional dyspnea |
ORPHA:621 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Hypertonia, Tremor, Death in infancy, Respiratory failure |
OMIM:617248 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Aggressive behavi... |
OMIM:600795 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... |
OMIM:607616 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Dysmetria, Central apnea, Spastic paraplegia, Gait ataxia, Spastic gait |
OMIM:615031 |
Monosodium Glutamate Sensitivity |
|
Dyspnea, Flushing |
OMIM:231630 |
Ethylmalonic Encephalopathy |
|
Ataxia, Petechiae, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Acrocyanosis... |
ORPHA:51188 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... |
ORPHA:2257 |
Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Self-biting, Poor eye contact |
OMIM:300624 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Ataxia, Broad-based gait, Hypertonia, Chorea, Difficulty walking, Sp... |
ORPHA:79097 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Pleural empyem... |
ORPHA:2038 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis, Opisthotonus, Hypertonia |
OMIM:250800 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia |
OMIM:615282 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Clumsiness, Poor eye contact, Loss of ambulation, Hypergonadotropic hypogonadism, Athetosis |
OMIM:271245 |
Joubert Syndrome 9 |
|
Episodic tachypnea, Apnea, Molar tooth sign on MRI, Oculomotor apraxia |
OMIM:612285 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Presynaptic Congenital Myasthenic Syndromes |
|
Ataxia, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Tip-toe gait, Cya... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Ataxia, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Tip-toe gait, Cya... |
ORPHA:590 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Nemaline Myopathy 2 |
|
Apnea, Inability to walk, Gait disturbance, Frequent falls, Waddling gait, Dysphagia, Respiratory... |
OMIM:256030 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Upper airway obstruction, Dysphagia, Dyspnea, Stridor |
ORPHA:142 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Poor eye contact, Babinski sign, Chorea, Choreoathetosis, Spasticity, Dystonia |
OMIM:618451 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Heparin-Induced Thrombocytopenia |
|
Abnormal onset of bleeding, Myocardial infarction, Pulmonary embolism, Cerebral ischemia |
ORPHA:3325 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis |
OMIM:612336 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
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Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... |
OMIM:618917 |
Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Hyperkinetic movements, Poor eye contact |
OMIM:618374 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Apnea, Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tre... |
OMIM:300055 |
Glycine Encephalopathy |
|
Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
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Failure to thrive, Poor eye contact, Abnormal pyramidal sign, Choreoathetosis, Lower limb spasticity |
OMIM:618249 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Motor stereotypy, Inability to walk, Self-injurious behavior, Hyperactivity, Tremor, Spasticity |
OMIM:618718 |
Gómez-López-Hernández Syndrome |
|
Ataxia, Impaired pain sensation, Abnormal brainstem morphology |
ORPHA:1532 |
Waardenburg Syndrome Type 3 |
|
Atelectasis, Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Motor stereotypy, Myoclonus, Inability to walk, Poor eye contact |
ORPHA:411986 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... |
ORPHA:747 |
X-Linked Centronuclear Myopathy |
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Respiratory distress, Fatigable weakness of swallowing muscles, Respiratory failure requiring ass... |
ORPHA:596 |
Morm Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Acute Lung Injury |
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Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... |
OMIM:125250 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
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Apnea, Respiratory insufficiency, Spastic tetraplegia, Myoclonus |
OMIM:614462 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Acquired Methemoglobinemia |
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Respiratory distress, Dyspnea, Cyanosis, Hypoxemia |
ORPHA:464453 |
Chronic Myeloid Leukemia |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Hyperekplexia 3 |
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Apnea, Exaggerated startle response, Hypertonia |
OMIM:614618 |
Cyanosis, Transient Neonatal |
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Cyanosis, Jaundice |
OMIM:613977 |
Cerebral Creatine Deficiency Syndrome 1 |
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Motor stereotypy, Hypertonia, Failure to thrive, Broad-based gait, Gait disturbance, Speech aprax... |
OMIM:300352 |
Microcephaly, Seizures, And Developmental Delay |
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Simplified gyral pattern, Hyperactivity |
OMIM:613402 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Hypertonia, Ataxia, Abnormal social behavior, Myoclonus, Parkinsonism, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Motor stereotypy, Apnea, Loss of ambulation, Clumsiness, Episodic tachypnea, Poor fine motor coor... |
ORPHA:79264 |
Joubert Syndrome 27 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:617120 |
Fanconi Anemia, Complementation Group V |
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Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Clumsiness, Tip-toe gait, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent... |
ORPHA:309256 |
Lennox-Gastaut Syndrome |
|
EEG with focal sharp slow waves, EEG abnormality, Abnormal brainstem morphology |
ORPHA:2382 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... |
OMIM:611590 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Poor eye contact, Small for gestational age |
OMIM:610883 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:615228 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Poor eye contact |
OMIM:618240 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Wheezing, Chronic rhinitis, Pulmonary situ... |
ORPHA:244 |
Gaucher Disease, Type Ii |
|
Apnea, Rigidity, Recurrent aspiration pneumonia, Spasticity, Dysphagia, Oculomotor apraxia |
OMIM:230900 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Ataxia, Pseudobulbar paralysis, Poor eye contact, Dysmetria, Intention tremor, Progressive extrap... |
ORPHA:438114 |
Nephronophthisis-Like Nephropathy 2 |
|
Pulmonary infiltrates, Polydipsia, Cough, Bronchiectasis, Recurrent respiratory infections |
OMIM:619468 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Gait ataxia, Dysmetria, Central apnea |
ORPHA:320385 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea |
OMIM:300864 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... |
ORPHA:206443 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Diffuse Alveolar Hemorrhage |
|
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on... |
ORPHA:90060 |
Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Abnormal pons morphology, Ataxia, Acroparesthesia, Clumsiness, Hoff... |
ORPHA:206448 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Anxiety, Limb myoclonus, Attention deficit hyperactivity disorder, Punding |
ORPHA:64280 |
Joubert Syndrome 30 |
|
Apnea, Molar tooth sign on MRI, Tachypnea |
OMIM:617622 |
Huntington Disease-Like 2 |
|
Apathy, Depression, Anxiety, Irritability, Dementia |
OMIM:606438 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Ataxia, Episodic tachypnea, Central apnea, Neonatal breat... |
OMIM:608629 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Pseudobulbar paralysis, Aggressive behavior, Suicidal ide... |
ORPHA:208441 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Gro... |
ORPHA:133 |
Hypocalcemia, Autosomal Dominant 2 |
|
Paresthesia, Postnatal growth retardation |
OMIM:615361 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Poor eye contact, Hyperactivity, Self-mutilation, Cerebral palsy, Stereotypical hand wrin... |
ORPHA:163681 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Abnormal social behavior, Intention tremor, Decerebrate rigidity, Babinski sign, Freq... |
ORPHA:309263 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Hyperactivity, Chorea, Spasticity, Dystonia |
ORPHA:88616 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency, Myoclonus, Rigidity |
OMIM:300673 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Pick Disease Of Brain |
|
Motor stereotypy, Apathy, Emotional blunting, Diminished motivation, Irritability |
OMIM:172700 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Tongue fasciculat... |
OMIM:608800 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Dysphagia, Respiratory distress |
ORPHA:240103 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Central Diabetes Insipidus |
|
Depression, Polydipsia, Anxiety |
ORPHA:178029 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
X-Linked Intellectual Disability, Van Esch Type |
|
Failure to thrive, Hypergonadotropic hypogonadism, Attention deficit hyperactivity disorder, Male... |
ORPHA:163976 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Slc35A1-Cdg |
|
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia, Pneumonia |
ORPHA:238459 |
Developmental And Epileptic Encephalopathy 55 |
|
Limb hypertonia, Inability to walk, Poor eye contact, Clonus |
OMIM:617599 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
M |