Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:619267 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Glanzmann Thrombasthenia 1 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:273800 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Acalvaria |
|
Spina bifida, Hypertelorism, Hydrocephalus, Postaxial hand polydactyly, Abnormality of neuronal m... |
ORPHA:945 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... |
OMIM:614201 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... |
OMIM:187800 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... |
ORPHA:849 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida, Hypertelorism |
ORPHA:1931 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Hypertelorism, Talipes equinovarus, Spina bifida, Camptodactyly |
OMIM:211960 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly |
ORPHA:1296 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Perching Syndrome |
|
Joint contracture, Cyanosis, Scoliosis, Camptodactyly |
OMIM:617055 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Micrognathia, Hy... |
OMIM:616038 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Microme... |
ORPHA:1908 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne... |
OMIM:181400 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Gray matter heterotopia, Syri... |
OMIM:207950 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Giant platelets, Macrothrombo... |
OMIM:155100 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Limb dystonia, Aggressive behavior |
OMIM:620270 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Toe syndactyly, Camptodactyly of finger, Spina bifida, Shor... |
ORPHA:1327 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion |
OMIM:613885 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Cyanosis, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Hitchhiker thumb, Spina bifida, Micrognathia, Hydrocephalus, Myelomen... |
ORPHA:2437 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Spina bifida, Micromelia, Micrognathia, Trismus, Hypertelorism, Pachy... |
ORPHA:2671 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Micrognathia, Lissencephaly, Ventriculomegaly |
ORPHA:99742 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Pallor, Failure to thrive, Generalized amyotrophy |
OMIM:613561 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela... |
ORPHA:2414 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Spina bif... |
ORPHA:3219 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Pallor |
ORPHA:90064 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Low posterior hairline, Webbed neck |
ORPHA:2345 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Short neck, Achilles tendon contracture, Hamstring con... |
OMIM:300696 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Failure to thrive, Cyanosis |
ORPHA:91130 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Short finger, Tapered finger |
OMIM:302000 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Short neck, Abnormal muscle fiber morphology, Kyphosis, Flexion contractur... |
ORPHA:75840 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida, Micromelia |
ORPHA:63862 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Short neck, Hyperlordosis, Kyphosis, Flexion contracture, Scoliosis, Increased variability in mus... |
OMIM:300718 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Sh... |
ORPHA:1120 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomeningocele, Ane... |
ORPHA:63259 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H... |
OMIM:617760 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Ra... |
OMIM:160500 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Impaired platelet aggregation, Abnormal dense granule content, Thrombocy... |
OMIM:601399 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Small for gestational age, Short neck, Hemivertebrae, Short 5th... |
OMIM:615583 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Spina bifida, Hypertelorism |
ORPHA:1104 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor |
ORPHA:79283 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Short neck, Spina bifida, Micrognathia, ... |
ORPHA:99776 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Trismus, Short distal phalanx of finger |
OMIM:609166 |
Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... |
OMIM:139090 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
X-Linked Mandibulofacial Dysostosis |
|
Micrognathia, Branchial anomaly, Hypoplasia of the zygomatic bone, Pulmonic stenosis, Webbed neck |
ORPHA:1131 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy, Myelomeningocele, Scoliosis |
OMIM:235000 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Ulnar Hemimelia |
|
Abnormal calcification of the carpal bones, Aplasia of the 4th finger, Dislocated radial head, Ra... |
ORPHA:93320 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... |
OMIM:618484 |
Diabetic Embryopathy |
|
Micrognathia, Hydrocephalus, Spinal dysraphism, Abnormality of the neck, Aplasia/Hypoplasia of th... |
ORPHA:1926 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child... |
OMIM:620265 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Dystonia |
OMIM:615924 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w... |
OMIM:616228 |
Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis |
ORPHA:2901 |
Bernard-Soulier Syndrome |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... |
OMIM:231200 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Lumbar hy... |
OMIM:167320 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyly, Abnormal mo... |
ORPHA:93323 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Thickened nuchal skin fold, Failure to thrive in infancy, Limb joint contracture, Ankle flexion c... |
ORPHA:284417 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Pallor |
ORPHA:2786 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Narrow femoral neck, Slender proximal phalanx of finger, Long proximal phalanx of finger, Flat ca... |
OMIM:603546 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Chiari malformation, Abnormal... |
ORPHA:93262 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Mandibular prognathia, Tapered finger, Camptodactyly |
ORPHA:435938 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Meningocele, Spina bifida |
ORPHA:894 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema |
OMIM:608776 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Hyperlordosis, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallo... |
OMIM:600462 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... |
OMIM:618718 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Dandy-Walker malf... |
OMIM:256520 |
Holoprosencephaly |
|
Encephalocele, Short neck, Hypertelorism, Abnormality of the spleen, Hydrocephalus, Spinal cord t... |
ORPHA:2162 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Frontonasal Dysplasia 1 |
|
Hypertelorism, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinuses... |
OMIM:136760 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Short n... |
OMIM:613776 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Hydrocephalus, Hyp... |
OMIM:620157 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Intrinsic hand muscle atrophy |
OMIM:304700 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Micrognathia, Preaxial hand... |
ORPHA:261318 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Dry skin, Muscular dystrophy... |
OMIM:617066 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, My... |
ORPHA:86812 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Congenital Vertical Talus |
|
Rocker bottom foot, Equinus calcaneus, Myelomeningocele, Achilles tendon contracture, Abnormality... |
ORPHA:178382 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
Bleeding Disorder, Platelet-Type, 17 |
|
Prolonged bleeding time, Macrothrombocytopenia, Absence of alpha granules, Impaired collagen-indu... |
OMIM:187900 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects... |
OMIM:620070 |
Breath-Holding Spells |
|
Cyanosis, Pallor |
OMIM:607578 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Retrognathia |
OMIM:602588 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Cerebellar atrophy |
OMIM:618302 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Spina bifida, Hypertelorism, Postaxial hand polydacty... |
ORPHA:3380 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... |
OMIM:235510 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... |
OMIM:253700 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Torticollis, Progressive distal muscular atrophy, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur... |
ORPHA:36412 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... |
ORPHA:59135 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Hypoplasia... |
ORPHA:3412 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Webbed neck, Clinodac... |
ORPHA:1393 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skeletal muscle fibers, Tho... |
OMIM:619542 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Webbed neck, Arthrogryposis multiplex conge... |
ORPHA:178148 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Spina bifida, Proximal placement of t... |
OMIM:304050 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Macroglossia, Branchial anomaly, Cystic hygroma, Vertebral segment... |
ORPHA:453499 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Abnor... |
OMIM:128100 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Kyphosis, Fle... |
OMIM:254090 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos... |
OMIM:255200 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Spina bifida, Hypertelorism, Hydrocephalus, Irregular ossification of hand... |
OMIM:109400 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hypertension, Increased blood pre... |
OMIM:619487 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia |
ORPHA:63260 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
Tetrasomy 5P |
|
Redundant neck skin, Cyanosis, Overlapping toe, Short hallux, Short neck, Long fingers, Hydroceph... |
ORPHA:3309 |
Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis, Myopathy, Talipes equinovarus, Type 1 muscle fiber p... |
ORPHA:597 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor, Flushing |
ORPHA:98820 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Low posterior hairline, Fused cervical vertebrae, Webbed neck |
ORPHA:3456 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... |
OMIM:620246 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Short neck, Hypoplasia of ... |
ORPHA:915 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia |
OMIM:603585 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Achilles tendon contractur... |
ORPHA:353 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Microretrognathia, Aplasia/Hypoplasia of the ribs, Aortic regurgitation, B... |
ORPHA:508498 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Hypertension, Osteolysis in... |
OMIM:166300 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impa... |
OMIM:153670 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated sk... |
OMIM:255160 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Hydrocephalus, Edema |
OMIM:617822 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida, Micrognathia, Supernumerary tooth, Metaphyseal widening, Dental malocc... |
OMIM:234100 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... |
ORPHA:353327 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Clinodactyly of the 5th... |
ORPHA:84 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hypoplasia of the maxilla, Hypertelorism, Hydrocephalus, Proptosis, Malar flattening,... |
OMIM:109120 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior |
ORPHA:3077 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Hypertelorism, Hypoplasia of the maxilla, M... |
ORPHA:261295 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Short neck, Kyphosis... |
ORPHA:2311 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short neck, Hypertelorism,... |
ORPHA:2308 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Patellar hypoplasia, Femoral bowing, Tibial bowing, Shorten... |
OMIM:114290 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Nail-Patella Syndrome |
|
Spina bifida, Patellar aplasia, Hypoplastic radial head, Patellar hypoplasia, Disproportionate pr... |
OMIM:161200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Spina bifida, Hemiatrophy |
ORPHA:2874 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Crouzon Syndrome |
|
Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Chiari malformation, Cerebell... |
ORPHA:207 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly,... |
OMIM:614120 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Pedal edema, Growth delay, Pulmonary arterial hypertension, Delayed puberty... |
ORPHA:77259 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... |
OMIM:620249 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... |
ORPHA:50815 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Limited... |
ORPHA:324604 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Spina bif... |
ORPHA:2092 |
Dravet Syndrome |
|
Limited neck range of motion, Cyanotic episode, Pallor, Tibial torsion |
ORPHA:33069 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Acrocyanosis |
ORPHA:2400 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Myelomeningocele, Spina bifida, Hypertelorism |
OMIM:193500 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Short neck, Hyperlordosis, Kyphosis, A... |
ORPHA:98863 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Kyphosis, Achilles tend... |
ORPHA:98855 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Increased body weight |
ORPHA:276608 |
Branchiootic Syndrome |
|
Branchial fistula, Micrognathia |
ORPHA:52429 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... |
ORPHA:199241 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Abnormal hemidiaphragm morphology, Patellar hypoplasia, Hypoxemia, Intrauterine growth ... |
ORPHA:2257 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha... |
OMIM:620285 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Hypoplasia of the max... |
ORPHA:1540 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Ma... |
ORPHA:1914 |
Otopalatodigital Syndrome, Type Ii |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Radi... |
OMIM:304120 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Hypertelorism, Deeply set eye, Branchial anomaly, Short palm, Prominent fingertip pads, Ventricul... |
ORPHA:466950 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... |
OMIM:170390 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites |
ORPHA:93552 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:620023 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Branchial fistula, Toe syndactyly, Tricuspid regurgitation, Camptodactyly ... |
ORPHA:261337 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Pallor, Large for gestational age |
ORPHA:324575 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Bor Syndrome |
|
Branchial cyst, Retrognathia |
ORPHA:107 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma... |
OMIM:201000 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Bowing of the long bones, Toe syndactyly, Arachnodactyly... |
ORPHA:261330 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Spinal dysraphism, Aortic valve stenosis, Mitral stenosis |
OMIM:617660 |
22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Hypoplasia of the thymus, Arachnodactyly, Abnormal dental enamel morpho... |
ORPHA:567 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... |
OMIM:613157 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor, Scoliosis |
OMIM:617675 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga... |
OMIM:248800 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Kyphosis, Achilles tend... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Kyphosis, Achilles tend... |
ORPHA:98853 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
Retinitis Pigmentosa 51 |
|
Pallor, Polydactyly, Obesity |
OMIM:613464 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma... |
ORPHA:87 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Pallor... |
OMIM:609053 |
Huntington Disease-Like 1 |
|
Abnormal posturing, Weight loss |
ORPHA:157941 |
Muscle-Eye-Brain Disease |
|
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Postaxial polydactyly, Increased nuchal translucency, Type 1 muscle fiber atrophy, Macroglossia, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Postaxial polydactyly, Increased nuchal translucency, Type 1 muscle fiber atrophy, Macroglossia, ... |
ORPHA:352665 |
Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Deeply set eye, Clinodactyly of the 5th finger, Prominen... |
OMIM:180849 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, A... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, A... |
ORPHA:98914 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ... |
ORPHA:37553 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... |
ORPHA:861 |
Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age |
ORPHA:621 |
Oligomeganephronia |
|
Branchial cyst, Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:2260 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276556 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... |
OMIM:259710 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers... |
OMIM:620351 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o... |
ORPHA:175 |
Neurofibromatosis, Type I |
|
Spina bifida, Hypertelorism, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valg... |
OMIM:162200 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Short metacarpal, Broad hallux, Abnormal dental enamel morphology, Microgn... |
ORPHA:439822 |
Pagod Syndrome |
|
Encephalocele, Sudden cardiac death, Spina bifida, Abnormality of the spleen, Meningocele, Abnorm... |
ORPHA:991 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276575 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Deeply set eye, Talipes equin... |
ORPHA:85279 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyl... |
OMIM:614407 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Non-Functioning Paraganglioma |
|
Flushing, Pallor, Weight loss |
ORPHA:94080 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276580 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Splenomegaly, Spinal dysraphism, Webbed neck |
OMIM:612918 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Patent ductus ar... |
ORPHA:1272 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... |
ORPHA:171881 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Jaundice, Pallor |
OMIM:615631 |
Poems Syndrome |
|
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites |
ORPHA:2905 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, M... |
ORPHA:2462 |
Cloacal Exstrophy |
|
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Abnormal fibula morpholog... |
ORPHA:93929 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Myositis, Muscular edema, Weight loss |
ORPHA:3165 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Proptosis, Short distal phalanx of finger |
ORPHA:2776 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Failure to thrive, Pallor |
ORPHA:90045 |
Mohr Syndrome |
|
Syndactyly, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Hydrocephalus, Po... |
OMIM:252100 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy |
OMIM:212065 |
Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fro... |
ORPHA:391474 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... |
ORPHA:781 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio... |
ORPHA:99827 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Short neck, Tombstone-shaped proximal phalanges, Micrognat... |
OMIM:108721 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Pleural effusion |
ORPHA:464329 |
Keipert Syndrome |
|
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypop... |
ORPHA:2662 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Deeply set eye,... |
OMIM:608154 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Failure to thrive, Cyanosis, Right ventricular hypertrophy |
ORPHA:444013 |
Pycnodysostosis |
|
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Persistence of primary t... |
ORPHA:763 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ... |
OMIM:156510 |
Fucosidosis |
|
Decreased muscle mass, Failure to thrive, Kyphosis, Anterior beaking of lumbar vertebrae, Acrocya... |
ORPHA:349 |
Evans Syndrome |
|
Jaundice, Bruising susceptibility, Pallor, Petechiae |
ORPHA:1959 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Umbilical hernia |
OMIM:601499 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of the ra... |
OMIM:105650 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Short metacarpal, Cardiac arrest, Broad femoral neck, Micrognathia, Met... |
OMIM:212720 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Talon ... |
ORPHA:2409 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Clubbing of fingers, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneou... |
ORPHA:335 |
Rheumatic Fever |
|
Erythema, Aplasia/Hypoplasia of the abdominal wall musculature, Pallor |
ORPHA:3099 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Failure to thrive |
OMIM:614857 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Leishmaniasis |
|
Pallor, Skin ulcer, Weight loss |
ORPHA:507 |
Buerger Disease |
|
Acrocyanosis, Skin ulcer |
ORPHA:36258 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Hypertelorism, Camptodactyly of finger, Ulnar deviation of finger |
ORPHA:1529 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bruising susceptibility, Pallor, Weight loss |
ORPHA:3226 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max... |
ORPHA:397973 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Alg9-Cdg |
|
Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Pericardial effusion, Hydrops fet... |
ORPHA:79328 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Redundant neck skin, Short neck, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:96334 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Hypertension, Intrauterine gr... |
OMIM:615846 |
Primary Myelofibrosis |
|
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Acrodysostosis |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... |
ORPHA:950 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Absence of the sacrum, Tethered cord, Hydrocephalus, Myelomeningocele, Meningocele,... |
OMIM:600145 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Failure to thrive in infancy, Hypoplasia of the musculature, Jaundice, ... |
ORPHA:231226 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Umbilical hernia, Mitral valve prolapse |
ORPHA:536532 |
Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Intraventricular hemorrhage, Hydro... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Intraventricular hemorrhage, Hydro... |
ORPHA:363958 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly |
OMIM:246560 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Hypertelorism, 2-3 toe syndactyly, Ventr... |
OMIM:218000 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepip... |
ORPHA:192 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Centrally nucl... |
OMIM:616503 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Arachnodactyly, Micrognathia, Metatarsus adductus, Hypoplasia of the maxilla, Hydrocephalus, Meta... |
OMIM:182212 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodie... |
OMIM:215140 |
Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules |
OMIM:614075 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Death in infancy, Failure to thrive, Petechiae |
OMIM:602473 |
Icf Syndrome |
|
Communicating hydrocephalus, Abnormality of neutrophils, Hypertelorism, Micrognathia, Umbilical h... |
ORPHA:2268 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Small for gestational age, Hypoxemia, Failure to thrive, Right ventricular hypertrophy |
ORPHA:860 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Scoliosis, Failure to thrive, Skeletal muscle autopha... |
OMIM:619518 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Cyanosis |
OMIM:263000 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Birth l... |
OMIM:139210 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Brachydactyly, Hypertelorism,... |
OMIM:101800 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Tali... |
ORPHA:573278 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Titubation, Abnormal posturing, Hypomimic face |
ORPHA:225147 |
Triploidy |
|
Finger syndactyly, Short neck, Hydrocephalus, Meningocele, Macroglossia, Holoprosencephaly, Intra... |
ORPHA:3376 |
Cohen Syndrome |
|
Short metacarpal, Micrognathia, Tapered finger, Hypoplasia of the maxilla, Short metatarsal, Genu... |
OMIM:216550 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Jaundice, Pallor |
OMIM:613839 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Pachygyria, Subcortical band heterotopia |
OMIM:618737 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Weight loss |
ORPHA:216866 |
Sepsis In Premature Infants |
|
Cyanosis, Small for gestational age, Jaundice, Pallor, Decreased body weight, Petechiae, Purpura |
ORPHA:90051 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Camptodactyly of finger |
ORPHA:1759 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Cyanosis, Bowing of the long bones, Postaxial polydactyly, S... |
OMIM:619879 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pallor |
ORPHA:163596 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Pallor |
OMIM:611590 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Tethered cord, Spina bifida, Hypertelorism, Tapered finger |
OMIM:619480 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Failure to thrive in infancy, Hypoplasia of the musculature, Jaundice, ... |
ORPHA:231214 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short distal phalanx of finger, Aplasia/Hypopla... |
ORPHA:1248 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Fifth finger distal phalanx clinodactyly, Micrognathia, Hypoplasia of ... |
OMIM:257850 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Hydrocephalus, Meningocele, Scolio... |
OMIM:130720 |
Crouzon Syndrome |
|
Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Shallo... |
OMIM:123500 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Short neck, Hypoplasia o... |
ORPHA:1798 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Periventricular nodular heterotopia, Micrognathia, Hypoplasia of the max... |
OMIM:601390 |
Alg3-Cdg |
|
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Neural tube defect, Ar... |
ORPHA:79321 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Broad hallux, Aplasia of the thymus, Micrognathia, Carious teeth, Hy... |
OMIM:620186 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Death in childhood |
OMIM:246450 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fingers, Severe failure to thrive |
ORPHA:3304 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Gitelman Syndrome |
|
Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Delayed puberty, Low-to-normal b... |
ORPHA:358 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia |
ORPHA:324636 |
8Q24.3 Microdeletion Syndrome |
|
Long toe, Branchial cyst, Microretrognathia, Short femur, Gastrointestinal hemorrhage, Rocker bot... |
ORPHA:508488 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis, Weight loss |
ORPHA:1302 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor, Increased body weight, Large for gestational age |
ORPHA:263455 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Death in infancy, Thoracic scoliosis, Abnormality of skeletal muscle fib... |
OMIM:620278 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypertelorism, Hypoplasia of the maxilla, Simplified gyral pattern, Clinodactyly, Short distal ph... |
OMIM:614261 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93950 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Short neck, Hypoplasia of the maxilla, Hyper... |
OMIM:305400 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax... |
ORPHA:2136 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Obesity |
OMIM:257500 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Cyanosis, Clubbing, Neonatal death, Failure to thrive |
OMIM:265120 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hypertelorism,... |
ORPHA:314679 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypertelorism, Hypoplasia of the maxilla, Abnormal metacarpal morphology, Umbilical hernia, Short... |
ORPHA:2095 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Epistaxis, Edema |
ORPHA:167 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Intracranial hemorrhage, Deeply set eye, Shallow orbits, Short palm,... |
OMIM:613406 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Pallor |
ORPHA:99931 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Proptosis |
ORPHA:90653 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Anemic pallor, Absent thumb, Absent radius, Short thumb, Flexion contr... |
OMIM:227645 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Talipes equinovarus |
OMIM:150260 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Clinodact... |
ORPHA:3068 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Failure to thrive, Petechiae |
ORPHA:51188 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Cyanosis, Limb hypertonia |
OMIM:619580 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Hypertelorism,... |
OMIM:601812 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Brachydactyly |
ORPHA:776 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Cyanosis |
ORPHA:159 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... |
OMIM:611134 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Acrocyanosis, S... |
ORPHA:896 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Death in infancy, Cyanosis, Ragged-red muscle fibers, Increased intramyo... |
OMIM:252010 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia |
OMIM:616367 |
Branchiooculofacial Syndrome |
|
Agenesis of cerebellar vermis, Proximal placement of thumb, Short neck, Micrognathia, Short thumb... |
OMIM:113620 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Meningocele, Tarsal synostosis |
ORPHA:3265 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... |
OMIM:192350 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Ulnar deviation of the hand, Periventricular nodular heterotopia, Microg... |
OMIM:615546 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Asbestos Intoxication |
|
Hypoxemia, Clubbing of fingers, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Flushing, Pallor, Weight loss |
ORPHA:276621 |
Lateral Meningocele Syndrome |
|
Short neck, Hyperlordosis, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Low post... |
ORPHA:2789 |
Kagami-Ogata Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Splenomegaly, Pulmonic stenosi... |
OMIM:608149 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Isolated Posterior Meningocele |
|
Tethered cord, Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neura... |
ORPHA:268810 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Cutis marmorata, Swelling of proximal interphalangeal joints, Angioedema... |
ORPHA:3260 |
Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Postaxial hand polydact... |
ORPHA:2166 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal platelet function, Abnormal platelet morphology |
ORPHA:906 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Cutis marmorata, Weight loss, Urticaria, Acrocyanosis, Purpura |
ORPHA:183 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Esophageal Atresia |
|
Cyanosis, Small for gestational age, Failure to thrive in infancy, Pallor, Scoliosis, Clinodactyl... |
ORPHA:1199 |
Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Facial hypotonia, Pallor, Flushing |
ORPHA:2131 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short foot, Deeply set eye, Large... |
OMIM:300534 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Cyanosis, Clubbing, Hypoxemia, Neonatal death, Failure to thrive |
OMIM:610921 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Jaundice, Pallor |
OMIM:266200 |
Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of proximal ra... |
ORPHA:2886 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Failure to thrive, Cyanosis |
ORPHA:91359 |
Vici Syndrome |
|
Left ventricular hypertrophy, Myopathy, Abnormal posturing, Failure to thrive |
OMIM:242840 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Metatarsus adductus, Hypoplasia of the maxilla, Deeply set eye, Clinodactyly |
ORPHA:293939 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:300676 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Hypertelorism |
OMIM:167730 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Fanconi Anemia, Complementation Group D2 |
|
Short stature, Patent ductus arteriosus, Hydrocephalus, Prolonged G2 phase of cell cycle, Abnorma... |
OMIM:227646 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb ph... |
OMIM:164210 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Pallor |
ORPHA:90033 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Failure to thrive in infancy, Genu valgum |
ORPHA:488627 |
Beta-Thalassemia Intermedia |
|
Jaundice, Pallor, Skin ulcer |
ORPHA:231222 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the radiu... |
ORPHA:245 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Hypoplastic frontal sinuses, Genu valgum,... |
ORPHA:560 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad hallux, Arachnodactyly, Hypertelorism, Hypoplasia of the maxilla, Broad thumb |
ORPHA:481152 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Flushing, Urticaria, Pallor, Weight loss |
ORPHA:98849 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Short neck, Hypoplasia of the maxilla |
ORPHA:178303 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... |
OMIM:608233 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Pallor, Weight loss |
ORPHA:20 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
Cleidocranial Dysplasia 2 |
|
Delayed eruption of primary teeth, Coxa valga, Hypoplasia of the maxilla, Aplastic clavicle, Supe... |
OMIM:620099 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Sitosterolemia 1 |
|
Giant platelets, Impaired platelet aggregation, Thrombocytopenia |
OMIM:210250 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... |
ORPHA:51608 |
Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microretrognathia, Tricuspid regurgita... |
ORPHA:228396 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Hypoplasia of the maxilla, Preaxial hand polydactyly, Malar flattening, Micrognathia |
ORPHA:79113 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93945 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Finger clinodactyly, Aplasia/H... |
ORPHA:306542 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Abnormal ossification involving the femoral head and neck, Increased n... |
ORPHA:79345 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Beta-Ketothiolase Deficiency |
|
Pallor, Weight loss |
ORPHA:134 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Flushing, Pallor, Weight loss |
ORPHA:29072 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Kyphoscoliosis, Hyperlordosis, Proximal amyotrophy, Pallor |
ORPHA:653 |
Waldenström Macroglobulinemia |
|
Urticaria, Cutis marmorata, Pallor, Purpura |
ORPHA:33226 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Poor wound healing, Meningocele, Dry skin, Facial erythema, Scaling skin, Flexion contracture of ... |
ORPHA:1010 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Failure to thrive, Pallor, Cyanosis |
ORPHA:137675 |
Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Small for gestational age, Short thumb, Preaxial hand polydactyly, Lo... |
OMIM:619488 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Kyphoscoliosis, Erythema, Hemivertebrae, Pallor |
OMIM:308300 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Small cervical vertebral bodies, Redundant neck skin, Postaxial polydact... |
ORPHA:397715 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Pallor |
ORPHA:331206 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele |
ORPHA:2481 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Hypoplasia of the maxilla, Congestive heart failure, Short metatarsal, Mitral r... |
OMIM:608328 |
Letterer-Siwe Disease |
|
Jaundice, Pallor |
OMIM:246400 |
Diamond-Blackfan Anemia |
|
Small for gestational age, Short neck, Absent thumb, Short thumb, Partial duplication of thumb ph... |
ORPHA:124 |
Noonan Syndrome |
|
Abnormal platelet function |
ORPHA:648 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis, Clubbing, Weight loss |
ORPHA:747 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Abnormal cortical gyration, Hypoplasia of the maxilla, Hydrocephalu... |
OMIM:610829 |
Double Outlet Right Ventricle |
|
Failure to thrive, Cyanosis |
ORPHA:3426 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Hypertelorism, Hypoplasia of the ... |
OMIM:231070 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis, Block vertebrae, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Bilateral talipe... |
OMIM:306955 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Pallor, Death in childhood, Failure to thrive |
OMIM:557000 |
7Q31 Microdeletion Syndrome |
|
Torticollis, Hypertelorism, Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Prominent ... |
ORPHA:251061 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Pallor |
OMIM:606812 |
Hereditary Spherocytosis |
|
Jaundice, Pallor, Skin ulcer |
ORPHA:822 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the maxill... |
ORPHA:1101 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Short neck, Tapered finger, Hypoplasia of the maxilla, Increased femoral an... |
OMIM:609460 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Senior-Loken Syndrome 8 |
|
Polydactyly, Pallor |
OMIM:616307 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle, Short stature, Abnormal heart morphology |
OMIM:600901 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Cyanosis, Right ventricular hypertrophy |
ORPHA:1329 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Postaxial polydactyly |
OMIM:614424 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Clubbing of toes, Clubbing of fingers, Left ventricular hypertrophy, Failure to thrive |
ORPHA:99106 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle, Short stature, Abnormal heart morphology |
OMIM:227650 |
Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Short hallux, Tapered finger, Short neck, Hypoplasia of the maxilla, Hypertelorism, C... |
OMIM:608156 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis, Clubbing |
ORPHA:439 |
Elliptocytosis 1 |
|
Jaundice, Pallor |
OMIM:611804 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Impaired platelet aggregation, Decreased circulating antibody level |
ORPHA:79329 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:424 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Short neck, Micromelia, Postaxial polydactyly, Hydrocephalus, An... |
OMIM:616546 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Short finger, Tapered finger |
ORPHA:1867 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, ... |
ORPHA:1827 |
Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion |
OMIM:181000 |
Sheehan Syndrome |
|
Pallor, Dry skin, Obesity |
ORPHA:91355 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Hypoplasia of the ma... |
ORPHA:193 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Micrognathia |
OMIM:241310 |
Aregenerative Anemia |
|
Bruising susceptibility, Pallor |
ORPHA:101096 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Mandibular prognathia, Short neck, Upper limb peromelia, Hypopl... |
ORPHA:1299 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Cachexia, Kyphosis, Meningocele, Scoliosis, Slender buil... |
ORPHA:558 |
Pitt-Hopkins Syndrome |
|
Failure to thrive, Short neck, Tapered finger, Broad fingertip, Short metatarsal, Small hand, Fin... |
ORPHA:2896 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Weakness of facial musculature, Cyanosis, Knee flexion contracture |
OMIM:617239 |
Dermatomyositis |
|
Telangiectasia of the skin, Erythema, Skin ulcer, Weight loss, Acrocyanosis, Inflammatory myopath... |
ORPHA:221 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis, Clubbing |
OMIM:610910 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Polymyositis |
|
Abnormal muscle fiber morphology, Weight loss |
ORPHA:732 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Meningocele |
ORPHA:2031 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye |
OMIM:105830 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Pallor |
OMIM:194380 |
Van Den Ende-Gupta Syndrome |
|
Hallux valgus, Hypoplastic scapulae, Arachnodactyly, Distal ulnar hypoplasia, Tapered finger, Mic... |
OMIM:600920 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Failure to thrive, Clubbing, Cyanosis |
OMIM:610913 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Hypertelorism, Hypoplasia of t... |
ORPHA:794 |
Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy |
ORPHA:31826 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Overlapping toe, Webbed neck |
OMIM:617478 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypertelorism, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of... |
ORPHA:50814 |
Myasthenia Gravis |
|
Myositis, Acrocyanosis |
ORPHA:589 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Distal Deletion 19P |
|
Long toe, Umbilical hernia, Hypoplasia of the maxilla, Arachnodactyly |
ORPHA:96129 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Hydrocephalus, Pallor, Abnormal metaphysis m... |
ORPHA:667 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... |
OMIM:613803 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Overlapping toe, Short neck, Micrognathia, Long fingers,... |
OMIM:213980 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Lathosterolosis |
|
Toe syndactyly, Postaxial hand polydactyly, Meningocele, Postaxial foot polydactyly, Intrauterine... |
ORPHA:46059 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Hypert... |
OMIM:209885 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:309520 |
Choanal Atresia |
|
Cyanosis, Polydactyly |
ORPHA:137914 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Hypertelorism |
ORPHA:782 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Short neck, Aplasia of the ulna, Abnormal ti... |
ORPHA:2879 |
Cowden Syndrome 1 |
|
Hypoplasia of the maxilla, Lymphopenia, Dysplastic gangliocytoma of the cerebellum, Micrognathia |
OMIM:158350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Muscular dystrophy, Pallor |
OMIM:253280 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand, Hypertelorism |
OMIM:122880 |
Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Cyanosis, Clubbing, Telangiectasia |
ORPHA:2038 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... |
OMIM:277170 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Hypertelorism |
ORPHA:2399 |
Peters-Plus Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Hypoplasia of the maxilla, Short metatarsa... |
OMIM:261540 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Dysphagia, Dystonia, Laryngeal dystonia |
ORPHA:845 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cutis marmorata, Dry skin, Scoliosis, Prolonged neonatal j... |
ORPHA:51 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Delayed eruption of teeth, Mandibular prognathia, Broad hallux, Hypertelorism, Hyp... |
OMIM:614188 |
Elsahy-Waters Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Super... |
OMIM:211380 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Mitral regurgitation, Pulmonic stenosis, Shallow orbits, Broad phalang... |
OMIM:277600 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar aplasia, Hypoplasi... |
OMIM:613805 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Failure to thrive, Cyanosis, Death in childhood |
OMIM:618426 |
Von Hippel-Lindau Disease |
|
Upper limb muscle weakness, Distal lower limb muscle weakness, Pallor |
ORPHA:892 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Persistence of primary ... |
ORPHA:740 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metaphysis, Retrognath... |
OMIM:616462 |
Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Patellar aplasia, Micrognathia |
OMIM:613804 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Coxa valga, Aplasia/Hypoplasia of the patella, Micrognathia, Hypopla... |
OMIM:224690 |
Classical Ehlers-Danlos Syndrome |
|
Striae distensae, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Talipe... |
ORPHA:287 |
Unilateral Polymicrogyria |
|
Abnormal posturing, Cyanosis |
ORPHA:268943 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Weight loss, Hypoxemia, Clubbing of fingers, Stippled calcification in carpal bones, Ox... |
ORPHA:60025 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye |
ORPHA:3044 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly, Taurodontia, ... |
OMIM:129400 |
Dyskeratosis Congenita |
|
Telangiectasia of the skin, Abnormality of neutrophils, Hypoplasia of the maxilla, Carious teeth,... |
ORPHA:1775 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Abnormal hemidiaphragm morphology, Hypocapnia |
ORPHA:980 |
Congenital Tracheomalacia |
|
Failure to thrive, Cyanosis, Cutis laxa |
ORPHA:95430 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... |
OMIM:601707 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, 2-3 toe syndactyly |
OMIM:106260 |
Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:615108 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:615109 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Dysphagia |
OMIM:617527 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Cutis marmorata, Tapered finger, Coxa ... |
OMIM:303600 |
Stickler Syndrome |
|
Arachnodactyly, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Hyper... |
ORPHA:828 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... |
ORPHA:79102 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Hypertension, Short ... |
ORPHA:2588 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Scoliosis |
OMIM:223900 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Overlapping fingers, Failure to thrive in infancy, Overlapping toe, Ky... |
ORPHA:798 |
Zttk Syndrome |
|
Aortic regurgitation, Hypoplasia of the maxilla, Small hand, Short foot, Deeply set eye, Cerebell... |
OMIM:617140 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Hypermobile Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Umbilical hernia, Acrocyanosis, ... |
ORPHA:285 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Aortic regurgitation, Tricuspid regurgitation, Overlapping toe, Hypertelor... |
OMIM:617402 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Obesity, Scoliosis, Brachydactyly |
ORPHA:293987 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasia of the zygomatic b... |
ORPHA:920 |
Familial Dysautonomia |
|
Acrocyanosis, Scoliosis |
ORPHA:1764 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Hypertelorism, Hypoplasia of the maxilla, Carious teeth, Split hand, Split foot, ... |
OMIM:129900 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, Patellar apl... |
ORPHA:2554 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Transient ischemic attack, Absent thumb, Hypoplasia of the maxilla, Simplified gy... |
ORPHA:500150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo... |
OMIM:276820 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short neck, Avascular necrosis of the capital ... |
ORPHA:2044 |
Double Outlet Left Ventricle |
|
Failure to thrive, Cyanosis |
ORPHA:3427 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... |
OMIM:187300 |
Truncus Arteriosus |
|
Intrauterine growth retardation, Cyanosis, Aplasia/hypoplasia involving bones of the extremities,... |
ORPHA:3384 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Weight loss, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
Aortic Arch Interruption |
|
Left ventricular hypertrophy, Cyanosis |
ORPHA:2299 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc... |
ORPHA:79318 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Clubbin... |
OMIM:600376 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Cyanosis |
ORPHA:99050 |
Goodpasture Syndrome |
|
Cyanosis, Pallor, Weight loss |
OMIM:233450 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis |
ORPHA:99103 |
Hypohidrotic Ectodermal Dysplasia |
|
Hypoplasia of the maxilla, Sinusitis |
ORPHA:238468 |
Primary Hyperoxaluria |
|
Acrocyanosis, Failure to thrive, Cutis marmorata |
ORPHA:416 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia |
OMIM:618367 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Conges... |
OMIM:182250 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Hypoplastic sacrum, Hypoplasia of the maxilla, Carious teeth, Split hand, Split f... |
OMIM:604292 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis... |
ORPHA:2968 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... |
OMIM:610655 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Eisenmenger Syndrome |
|
Hypoxemia, Cyanosis, Clubbing |
ORPHA:97214 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Hypoplasia of the maxilla, Taurodontia |
OMIM:305100 |
Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Failure to thrive, Cyanosis |
ORPHA:216694 |
Arima Syndrome |
|
Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly |
OMIM:243910 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Primrose Syndrome |
|
Hypertelorism, Metatarsus adductus, Hypoplasia of the maxilla, Genu valgum, Deeply set eye, Malar... |
OMIM:259050 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Stereotypical hand wringing, Dysphagia |
ORPHA:438213 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Pallor |
ORPHA:99125 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla |
OMIM:180500 |