Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Waddling gait, Multicentric femoral head ossification, Congenital hip dislocation, Antalgic gait,... |
ORPHA:168621 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity, Bruxism, Aggressive behavior |
OMIM:615493 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphad... |
OMIM:209950 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior |
OMIM:617171 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia, Dysphagia |
OMIM:615945 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Frequent falls, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, S... |
ORPHA:225154 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Brunner Syndrome |
|
Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior |
OMIM:300615 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Inappropriate laughter, Dystonia... |
OMIM:619150 |
Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... |
ORPHA:507 |
Spinal Muscular Atrophy, Jokela Type |
|
Pes planus, Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, ... |
OMIM:615048 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Abnormal foot morphology, Decreased patellar reflex, Absent patellar reflexes, Mildly ele... |
OMIM:614369 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Opt... |
ORPHA:99013 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ... |
ORPHA:401768 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Lim... |
ORPHA:210571 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... |
OMIM:267700 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures... |
ORPHA:276580 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... |
ORPHA:276575 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... |
OMIM:604484 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Reduced systolic function, Microcytic anemia, Dilated cardiomyopa... |
OMIM:618805 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... |
ORPHA:98856 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Paralysis, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse... |
ORPHA:90064 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... |
OMIM:619644 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Self-biting |
OMIM:619988 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske... |
OMIM:619733 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Sh... |
OMIM:611890 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, T... |
OMIM:208920 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, D... |
ORPHA:216873 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Spastic dysarthria, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower li... |
ORPHA:94124 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, Truncal a... |
OMIM:608636 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... |
OMIM:309548 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hematochezia, ... |
ORPHA:2070 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Abnor... |
ORPHA:247604 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... |
DECIPHER:29 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... |
ORPHA:90103 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased circulating beta-2-microglobulin l... |
OMIM:241600 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H... |
OMIM:617760 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating fer... |
OMIM:603553 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... |
ORPHA:100973 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypertension, Hypoalbuminemia, Ascites, Anemia |
OMIM:603278 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, ... |
ORPHA:1667 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Short stature, Hyperlordosis, Fatty replacement of skeletal muscle... |
ORPHA:52430 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Short stature, Centrally nucleated skeletal ... |
OMIM:248800 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralys... |
OMIM:620011 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Congenital Myopathy 3 With Rigid Spine |
|
Short stature, Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Flexion... |
OMIM:602771 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal a... |
OMIM:611067 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:99947 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Abn... |
ORPHA:95434 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... |
ORPHA:64743 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... |
OMIM:618484 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Lymphocytosis, Dystonia |
OMIM:610181 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w... |
OMIM:616228 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit... |
OMIM:608423 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly... |
OMIM:604320 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenop... |
ORPHA:37748 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos... |
OMIM:255200 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Urocanase Deficiency |
|
Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hep... |
OMIM:619013 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... |
ORPHA:231226 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness... |
OMIM:620068 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Pes cavus |
OMIM:607250 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasti... |
OMIM:615924 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... |
OMIM:255320 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Ataxia, Truncal titubatio... |
ORPHA:88628 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:255310 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate p... |
OMIM:224120 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, L... |
OMIM:500002 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Short stature, Facial palsy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fi... |
OMIM:616209 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Dysphagia, Bradykinesia, Dystonia |
OMIM:128235 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Diarrhea 13 |
|
Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytopenia, Hepat... |
ORPHA:292 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Spinal rigid... |
ORPHA:486815 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Foot dorsiflexor weakn... |
OMIM:614436 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, ... |
OMIM:619542 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Cranio... |
OMIM:259700 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... |
ORPHA:276435 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Limb-girdle mu... |
ORPHA:86812 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... |
OMIM:606070 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Joint laxity, Hepatomegaly, Hyperactivity, Ataxia, Elevated c... |
OMIM:615673 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Inability to walk, Metaphyseal widening, Flexion contracture, Clubbing, Congestive ... |
OMIM:617303 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankl... |
OMIM:611225 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Lymphopenia |
OMIM:617575 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... |
OMIM:605285 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Muscular dy... |
OMIM:617066 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Incr... |
ORPHA:98849 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbu... |
OMIM:226300 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... |
OMIM:617021 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... |
ORPHA:98870 |
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 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... |
ORPHA:247353 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Self-injurious behavior, Dystonia, Spasticity, Abnormal repetitive mannerisms |
OMIM:617820 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration,... |
OMIM:255100 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased testicular s... |
OMIM:604168 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Tremor, Flexion contracture, Hepatosplenomegaly, Clumsine... |
ORPHA:2590 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Chorioretinal dystrophy, Ataxia, Retinal dystrophy, Gait ataxia, Spinocerebel... |
OMIM:215470 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hypoalbuminemia, Hepatic fibrosis, Hepatic steatosis, Self-mutilation, Hemolytic anem... |
OMIM:619487 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:214400 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Dys... |
OMIM:254900 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, ... |
ORPHA:276608 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor |
OMIM:302500 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Tremor, Osteoarthrit... |
OMIM:277900 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, Ar... |
OMIM:604250 |
Merrf |
|
Ataxia, Short stature, Ragged-red muscle fibers, Optic atrophy, Myopathy, Multiple lipomas |
ORPHA:551 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Short stature, Ragged-re... |
ORPHA:457050 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired pain sensation, Impaired tem... |
OMIM:619574 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Microcytic anemia, Axonal degeneration, Distal amyotrophy, Tongue fa... |
OMIM:618811 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Respiratory paralysis |
OMIM:121300 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, Hypertonia, Agit... |
OMIM:617435 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Myoclonus, Hypocholester... |
OMIM:610539 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me... |
ORPHA:90362 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... |
OMIM:604290 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Short stature, Distal amyotrophy, Type 1 muscle fiber pred... |
OMIM:619042 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... |
OMIM:607225 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
Alg6-Cdg |
|
Ataxia, Jaundice, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of ... |
ORPHA:79320 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u... |
ORPHA:2204 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... |
OMIM:611637 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:607706 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Clonus, Micrognathia, Hypertonia, Hypocalcemia, Hepatomegaly, Incre... |
OMIM:259720 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Neuromuscular dysphagia, ... |
ORPHA:449285 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:314978 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia |
OMIM:620270 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Hypocalce... |
ORPHA:94093 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finger, Diaphragmatic pa... |
OMIM:614399 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:540 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... |
OMIM:620246 |
Machado-Joseph Disease Type 3 |
|
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... |
ORPHA:276244 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Thoracic scoliosis, Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeletal musc... |
OMIM:255160 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... |
OMIM:608104 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Increased connective tissue, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... |
OMIM:613530 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Kyphosis, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, ... |
OMIM:618237 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Tetanus |
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Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Op... |
ORPHA:3299 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, A... |
ORPHA:36234 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Failure to thrive in infancy, Short stature, Decreased activity of mitochondrial complex ... |
OMIM:619065 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
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Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Scoliosis, Increased v... |
OMIM:300718 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Fatiguable weaknes... |
ORPHA:90117 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
Rhabdomyolysis, Susceptibility To, 1 |
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Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Hyperphenylalaninemia, Bh4-Deficient, C |
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Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Hereditary Myopathy With Early Respiratory Failure |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
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Tremor, Self-mutilation, Inappropriate laughter, Aggressive behavior |
OMIM:616269 |
Isolated Osteopoikilosis |
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Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Hepatomegaly, Tachycardia, Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemi... |
ORPHA:263455 |
Tubular Aggregate Myopathy |
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Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Rapid-Onset Dystonia-Parkinsonism |
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Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Limb dystonia, C... |
ORPHA:71517 |
Hemochromatosis, Type 2B |
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Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cong... |
OMIM:613313 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, M... |
OMIM:258450 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Beta-Thalassemia Intermedia |
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Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Sporadic Creutzfeldt-Jakob Disease |
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Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... |
ORPHA:204 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo... |
OMIM:619738 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
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Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia |
OMIM:615282 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Parkinson Disease 22, Autosomal Dominant |
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Resting tremor, Restless legs, Rigidity, Bradykinesia, Parkinsonism with favorable response to do... |
OMIM:616710 |
Congenital Myopathy 22A, Classic |
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Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers... |
OMIM:620351 |
Bethlem Myopathy 2 |
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Scapular winging, Kyphosis, Flexion contracture, Myopathy, Atrophic scars, Scoliosis, Increased v... |
OMIM:616471 |
Abetalipoproteinemia |
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Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa... |
ORPHA:14 |
Baker-Gordon Syndrome |
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Ataxia, Involuntary movements, Choreoathetosis, Self-injurious behavior, Hyperkinetic movements, ... |
OMIM:618218 |
Spinocerebellar Ataxia Type 12 |
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Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Dystonia 7, Torsion |
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Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Hypoalbuminemia, Myocardial infarction |
ORPHA:54370 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Lateral ventricle dilatation, Glio... |
OMIM:221770 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Ac... |
OMIM:617258 |
Myopathy, Centronuclear, 4 |
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Frequent falls, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Severe X-Linked Mitochondrial Encephalomyopathy |
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Skeletal muscle atrophy, Involuntary movements, Increased connective tissue, Tongue fasciculation... |
ORPHA:238329 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
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Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme... |
OMIM:618387 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
OMIM:612069 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Focal ... |
ORPHA:240103 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid content, Generaliz... |
ORPHA:171439 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... |
OMIM:603552 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Tularemia |
|
Brain abscess, Tachycardia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal... |
ORPHA:3392 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Epilepsy, Familial Adult Myoclonic, 4 |
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Tremor, Myoclonus |
OMIM:615127 |
Adult Neuronal Ceroid Lipofuscinosis |
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Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Scoliosis, Lower limb... |
OMIM:616155 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentra... |
OMIM:251880 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Leukopenia, Hypoalbuminemia, Fasti... |
ORPHA:2298 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi... |
OMIM:616267 |
N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia |
OMIM:614063 |
Slc35A2-Cdg |
|
Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,... |
ORPHA:356961 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... |
OMIM:300696 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Chorea, Stereotypical hand wringing, Dystonia |
OMIM:618760 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia, Dystonia |
OMIM:618093 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy... |
ORPHA:251282 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa... |
OMIM:606159 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Hypoalbuminemia, Constrictiv... |
ORPHA:67 |
Galloway-Mowat Syndrome 6 |
|
Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal burst... |
OMIM:618347 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Attention deficit hyperactivity disorder |
OMIM:615401 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat... |
OMIM:613327 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... |
ORPHA:247585 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Spasticity, Abnorma... |
OMIM:618917 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Myoclonus, Oppositional defiant di... |
OMIM:619028 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor co... |
OMIM:613280 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Elevated circulating creatine kinase concentration, Cardiac arrest, Hypoglycemia, Elevate... |
OMIM:616878 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Abnorm... |
ORPHA:99826 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance, Anemia, Abnormality of iron homeostasis |
ORPHA:75563 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... |
ORPHA:75565 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contracture, Hypertonia, Ca... |
OMIM:604273 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Hypoalbuminemia, Hypoprotei... |
ORPHA:2494 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hype... |
ORPHA:169186 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Scoliosis, ... |
OMIM:619518 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... |
OMIM:613670 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage, Hypoalbuminemia, Pedal edema |
ORPHA:84090 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Spasticity, Abnormal repetitive manneris... |
OMIM:618718 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, A... |
ORPHA:275864 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Short stature, Flexion contracture, Optic atrophy, Ragged-red muscle fibers, Ba... |
OMIM:252011 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Abnormal mitochondrial morphology, Spastic tetraplegia, Choreoathetosis, Spasticit... |
OMIM:300438 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Spastic diplegia |
OMIM:617830 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Prolonged neonatal jaundice, Hyper... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Prolonged neonatal jaundice, Hyper... |
ORPHA:529799 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Anorexia, Hypersplenism, ... |
ORPHA:77259 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Flexion contracture, Scoliosis, Increased variability in muscle fiber diameter, ... |
OMIM:300717 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Tachycardia, Rigidity, Opisthotonus, Hypertensio... |
OMIM:184850 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... |
OMIM:616286 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia, Ataxia, Neutropenia |
OMIM:616949 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Short stature, Hiatus hernia... |
OMIM:601162 |
Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio... |
ORPHA:99948 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Flexion cont... |
ORPHA:367 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Increased connective tissu... |
OMIM:601954 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, V... |
OMIM:212138 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Thr... |
OMIM:615010 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Increased circulating ferritin concentration, Congestive heart failure, Dilated car... |
OMIM:602390 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Frequent falls, Abnormal muscle fiber morphology, Short neck, Kyphosis, Spinal rigid... |
ORPHA:75840 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr... |
ORPHA:85443 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... |
ORPHA:101097 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Short stature, Thick hair, Tremor, Increased vari... |
ORPHA:502423 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616437 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath... |
OMIM:611762 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosis... |
ORPHA:79312 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S... |
OMIM:617072 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Pericarditis, Ataxia, Tremor, Flexion contracture, Dysmetria, Cardiomyo... |
OMIM:212065 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Brac... |
OMIM:162100 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Ataxia, Joint stiffness, Osteoporosis, Increased bone density wit... |
OMIM:136300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... |
ORPHA:77297 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... |
OMIM:613204 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp... |
OMIM:607346 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... |
OMIM:167320 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Lower limb muscle weakness, Ragged-red... |
OMIM:616924 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Neutropeni... |
ORPHA:37042 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Short stature, Thick hair, Tremor, Limb ataxia, Distal sensory impairment, Dysmetria, Pig... |
OMIM:617675 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Limb-girdle muscle we... |
ORPHA:352470 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Abnormal retinal morphology, Hand mus... |
ORPHA:254886 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Short stature, Kyphosis, Abnormal pyramida... |
ORPHA:48431 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Lowe... |
OMIM:613710 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilated cardiomy... |
ORPHA:563 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atr... |
OMIM:500013 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ... |
ORPHA:324581 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Patellar overg... |
OMIM:607115 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction... |
OMIM:615368 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopeni... |
ORPHA:90051 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr... |
ORPHA:3240 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperpho... |
OMIM:145600 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia |
OMIM:300857 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre... |
OMIM:300580 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Skeletal mus... |
ORPHA:90324 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lower limb spasticity, Lumbar hyperlordosis, Retinal dystrophy, Ataxia, Short stature, Kyphosis, ... |
OMIM:616756 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Increased bone mineral density, Ventricular arrhythmia, Abnormal left vent... |
ORPHA:36913 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Axial dystonia, Failure to thrive in infancy, Short ne... |
OMIM:619026 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter |
OMIM:617235 |
Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Joint stiffness, Inability to walk, Congestive heart failur... |
ORPHA:505248 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, L... |
OMIM:607596 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Thoracic kyphosis, Mitochondrial respirato... |
ORPHA:909 |
Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma... |
ORPHA:79273 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity |
OMIM:300983 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness, Lower limb asymmetry |
OMIM:166700 |
Alg1-Cdg |
|
Cardiomyopathy, Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Unsteady gait, Hypertonia, Myoclonus, Anemia |
OMIM:610090 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal central motor function, Hypouricemia, Ataxia, Cerebral pals... |
ORPHA:760 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:79319 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... |
OMIM:619566 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
High Altitude Pulmonary Edema |
|
Leukocytosis, Tachycardia, Anorexia |
ORPHA:330012 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Large for gestational age,... |
ORPHA:169189 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Babinski sign, Dysmetria, Acute myelomonoc... |
OMIM:159550 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Short stature, Abnormal muscle fiber morphology, Spinal ... |
ORPHA:598 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Increased variability in mu... |
OMIM:125250 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Back pain, Frontal balding, Atrophy/Degeneration involving the co... |
ORPHA:139399 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... |
ORPHA:309854 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Spastic tetraparesis, Neutropenia, Intention tremor |
OMIM:266130 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Increased connective tissue, ... |
ORPHA:258 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated circulating creatine kinase concentrat... |
ORPHA:26793 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Tongue fasciculations, Dif... |
OMIM:159950 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Increased circulating gua... |
OMIM:613179 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai... |
OMIM:617916 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Dystonia, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Hyperammonemia, Choreoa... |
ORPHA:289916 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... |
OMIM:614298 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... |
ORPHA:263297 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Micrognathia, Increased circulating ferritin concentration, Congenital hepatic fibr... |
ORPHA:446 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy... |
OMIM:616287 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Pedal edema |
OMIM:152800 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... |
OMIM:618323 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Flexion contracture, Dilated cardiomyopathy, Dysphagia, Anemia, Decreased s... |
ORPHA:89842 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palmoplantar keratoderma, Syncope, Palpit... |
OMIM:610476 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Talipes, Elevated circulating creatine kinase concentration, Joint stiffness, Trem... |
ORPHA:209335 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis,... |
ORPHA:171 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... |
OMIM:254090 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... |
ORPHA:101075 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Tongue thrusting, Limb myoclonus, ... |
ORPHA:3095 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu... |
OMIM:608799 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentrat... |
OMIM:620306 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakne... |
OMIM:614409 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... |
ORPHA:2585 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Abnormal macrophage morpho... |
ORPHA:353 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Tremor, Leukocytosis, Absent patellar reflexes, Abnormality of ... |
ORPHA:206594 |
Alg12-Cdg |
|
Hyponatremia, Sandal gap, Proximal placement of thumb, Micrognathia, Long fingers, Abnormal bone ... |
ORPHA:79324 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Neurogenic bladder, Spastic paraplegia, Di... |
OMIM:263570 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re... |
ORPHA:240085 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Hypoglycemia, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hy... |
OMIM:617093 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt... |
OMIM:300842 |
Graft Versus Host Disease |
|
Dupuytren contracture, Tachycardia, Acute hepatitis, Limited elbow movement, Jaundice, Limited sh... |
ORPHA:39812 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... |
ORPHA:171442 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insul... |
ORPHA:363400 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulating ferritin concentration, Cong... |
OMIM:235200 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density, Spastic paraplegia |
OMIM:250500 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Tachycardia, Tremor, Hemiparesis, Hypertonia, Hyperglycemia |
OMIM:619737 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Abnormality of the musculature of the lower limbs, Retinal dystrophy, Atax... |
ORPHA:464282 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Dilated cardiomyopathy, Hypoa... |
OMIM:616730 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin... |
OMIM:615157 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Skeletal muscle hy... |
ORPHA:99014 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Increased mean platelet volume, Avascular necrosis of the cap... |
OMIM:222470 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Slender build, Astrocytosis |
OMIM:611087 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Rigidity, Dysmetria, Gait ataxia |
OMIM:618090 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Hyp... |
ORPHA:466677 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... |
ORPHA:100070 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Generalized dystonia, Ataxia, Pancytopenia, Aggressive behavior, Chorea, Dilated car... |
OMIM:618321 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Curly hair, Facial palsy, Spastic paraple... |
OMIM:256850 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Short stature, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose... |
OMIM:617404 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin conce... |
ORPHA:79277 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab... |
ORPHA:99827 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Clonus, Intraventricular hemorr... |
OMIM:619055 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Stiff interphalangeal joints, Hyperglycemia, Hepatomegaly, Portal hypertension, Ost... |
ORPHA:465508 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... |
OMIM:617780 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,... |
OMIM:109130 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Juvenile Polyposis Syndrome |
|
Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Ra... |
OMIM:160500 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Short stature, Splenomegaly, Gait apraxia, Optic atrophy, Increas... |
OMIM:617302 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Decreased ne... |
OMIM:612577 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Pes planus, Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine... |
ORPHA:88618 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, ... |
OMIM:226670 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Ataxia, Progressive intervertebral ... |
ORPHA:480 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Hyperlordosis,... |
OMIM:615290 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Telangiectasia of the skin, Ataxia, Tremor, Gait disturbance, Type II diabetes... |
ORPHA:100 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea... |
ORPHA:829 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Classic Galactosemia |
|
Speech apraxia, Hepatomegaly, Incoordination, Postural tremor, Ataxia, Hypoglycemia, Abnormal ery... |
ORPHA:79239 |
Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Spastic diplegia, Abnormality of circulatin... |
ORPHA:3124 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath... |
OMIM:619046 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Ataxia, Abnormality of hair texture, Growth delay, Sparse or absent eyelashes, Pili torti, Aplasi... |
ORPHA:2891 |
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 |
Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetan... |
ORPHA:79443 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Ataxia, Short stature, Tremor, Kyphosis, Splenomegaly, ... |
ORPHA:87876 |
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 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Variegate Porphyria |
|
Tachycardia, Paralysis |
OMIM:176200 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Parastremmatic Dwarfism |
|
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis |
OMIM:168400 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Hepato... |
ORPHA:355 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Ky... |
ORPHA:101078 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Talip... |
OMIM:616719 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Cardiomegaly, Ventricular tachycardia, Atrioventricular bloc... |
OMIM:601005 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia of the radius, Short... |
OMIM:607143 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia |
ORPHA:2582 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Myo... |
ORPHA:79264 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Flexion contracture, Optic atrophy, Ba... |
OMIM:609541 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,... |
ORPHA:368 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Decreased a... |
OMIM:616239 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A... |
OMIM:253310 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... |
ORPHA:231214 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Abnormalit... |
ORPHA:79473 |
Foxg1 Syndrome |
|
Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Spasticity, Abnormal repet... |
ORPHA:561854 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Lympha... |
OMIM:602579 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place... |
ORPHA:628 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, Babinski s... |
OMIM:606693 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Pa... |
OMIM:242150 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Tachycardia, Periodic paralysis |
OMIM:613239 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia |
OMIM:614441 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... |
OMIM:301107 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Osteoporosis, ... |
OMIM:606054 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Hypoplastic iliac wing, Sm... |
OMIM:235510 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Limitation of joint mobility, Hypertension, Hypertonia, Gait disturbance, Type I diabetes... |
ORPHA:1192 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... |
OMIM:617892 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Short metacarpal, Short fifth metatarsal, Increased bone miner... |
ORPHA:79444 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Nail-biting, Tachycardia, Hyperactivity, Tapered finger, 2-3 toe syndactyly, Abnor... |
ORPHA:485405 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Increased variability i... |
OMIM:253601 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Decreased activity of m... |
OMIM:616811 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the... |
OMIM:614373 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Chorea, Leukopenia, Mitral reg... |
OMIM:301080 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein co... |
OMIM:208900 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Vertebral fusion, Elbow contracture, Facial palsy, H... |
OMIM:606612 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fas... |
ORPHA:276198 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Hypoglycemia, Portal hypertension, Rickets, Cholestasis, ... |
OMIM:613658 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Increased variability in muscle fiber diameter, Enamel h... |
OMIM:617915 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia |
ORPHA:330021 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Pigmentary retinopathy, Myopathy, Scoliosis, Decreased activity of mitochondrial comple... |
OMIM:618234 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Splenic rupture, Opisthotonus, Clubbing of fingers, Left ventricular hypertrophy, In... |
ORPHA:335 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia, Hypertonia, Dys... |
OMIM:261640 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperamm... |
ORPHA:159 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... |
OMIM:105400 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Cerebral atrophy, Camptodactyly |
OMIM:618453 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Hypoglycemia, Elevated circulating creatine kinase concentration, Sudd... |
OMIM:614921 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... |
ORPHA:71277 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, Aggressive behavior... |
ORPHA:3077 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Ly... |
OMIM:618886 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia,... |
ORPHA:49827 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Hyperkinetic movements, Lim... |
ORPHA:93958 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Short stature, Kyphosis, Slu... |
OMIM:230650 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Ragged-red muscle fi... |
ORPHA:477774 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Right ventricular failure, Reduced circulating transferrin concentration, Chylous as... |
ORPHA:90363 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cortical subperiosteal resorpt... |
ORPHA:94089 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Myoclonus |
OMIM:605899 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Patent ductus arteri... |
OMIM:618658 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Patent ductus art... |
OMIM:616867 |
Urocanic Aciduria |
|
Action tremor, Ataxia, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:614895 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
OMIM:300257 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Neuropathic spinal arthropathy, Decreased mitochondrial number, Spinal rigidi... |
ORPHA:352447 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Decreased activity of mitochondrial ATP synthase complex, Ragged-red muscle fibers, Decreased act... |
OMIM:609560 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... |
OMIM:617600 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dysphagia, Myoclonus... |
ORPHA:79263 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber diameter, Cryptorch... |
OMIM:616816 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski... |
OMIM:610246 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Fragile nails, Fine hair |
ORPHA:500166 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Hematochezia, Melena, Clubbing of fingers, Midcla... |
ORPHA:79076 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Vocal cord par... |
ORPHA:397744 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... |
OMIM:608340 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Poor coordination, Decreased activity of mitochondrial com... |
ORPHA:478029 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Abnormal repetitive... |
OMIM:619317 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron... |
ORPHA:90033 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... |
ORPHA:79234 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Ankle swelling, Anorexia, Leukocytosis, Cervical lymphadenopathy, Lymph... |
ORPHA:514 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait ataxia, Short foot,... |
OMIM:610185 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Spasticity, Hypoalbuminemia, Macrovesicular hepatic steatosis, Bile duct proliferat... |
OMIM:618329 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Short foot, Compulsive behaviors, Reduction of neutrophil motility, Brachydactyly |
OMIM:266265 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopeni... |
OMIM:620210 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Metaphyseal widening, Craniofacial osteosclerosis, Increased skull ossification... |
OMIM:618476 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level |
ORPHA:264675 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Hypoplastic toenails, Decreased activity of mitochondrial complex IV, Cerebra... |
OMIM:604377 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations, Periodic paralysis |
OMIM:188580 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Rick... |
ORPHA:289176 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations, Proximal ... |
OMIM:608030 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... |
OMIM:253700 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn... |
ORPHA:567548 |
Typical Nemaline Myopathy |
|
Facial palsy, Short neck, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Flexion contractu... |
ORPHA:171436 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Spastic gait |
OMIM:616795 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... |
ORPHA:79139 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
Muckle-Wells Syndrome |
|
Leukocytosis, Clubbing of fingers, Elevated circulating C-reactive protein concentration |
OMIM:191900 |
Myasthenic Syndrome, Congenital, 12 |
|
Retinoschisis, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... |
ORPHA:713 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Abnormal repetitive mannerisms |
OMIM:619092 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Dysphagia |
OMIM:313200 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:120100 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Decreased activity of mitochondrial complex I, Increased variability in muscle fiber diameter, De... |
OMIM:614096 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the... |
OMIM:614307 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Hyperlordosis, Microcytic anemia, Ra... |
OMIM:600462 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic... |
OMIM:613070 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Spinocerebellar Ataxia Type 27 |
|
Aggressive behavior, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
Giant Axonal Neuropathy |
|
Facial palsy, Babinski sign, Spasticity, Distal sensory impairment, Diffuse axonal swelling, Scol... |
ORPHA:643 |
Sandhoff Disease |
|
Ataxia, Splenomegaly, Kyphosis, Cherry red spot of the macula, Failure to thrive |
ORPHA:796 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Short stature, Kyphosis, Tongue fasciculations, Facial myokymia, Failure to thrive |
OMIM:620007 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... |
OMIM:620249 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... |
ORPHA:98863 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis... |
ORPHA:2047 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... |
OMIM:608627 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia... |
OMIM:610743 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Right hemiplegia, Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremo... |
OMIM:607426 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti... |
OMIM:157640 |
Refractory Anemia |
|
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... |
ORPHA:98826 |
Muscle Filaminopathy |
|
Back pain, Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory mus... |
ORPHA:171445 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Spasticity, Hypertens... |
ORPHA:134 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... |
OMIM:270400 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Short stature, Decreased nerve conduction velocity, Kyphosis, Sp... |
ORPHA:812 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hypertonia, ... |
ORPHA:79477 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Hyperammonemia, Dysphagia, Neutropenia, Loss of ambulation, Spasticity, Craniofacia... |
OMIM:618253 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Le... |
ORPHA:36238 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity |
OMIM:611895 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Vacuolated lymphocytes, Bradykines... |
ORPHA:228346 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Lower limb asymmetry, Micrognathia, Gen... |
ORPHA:763 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ... |
ORPHA:79106 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... |
OMIM:616470 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive p... |
OMIM:612852 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:98853 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, Hyperton... |
ORPHA:800 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios... |
ORPHA:276241 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Myoclonus, Spastic paraparesis |
ORPHA:391417 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragg... |
OMIM:615084 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Hypoglycemia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, D... |
OMIM:617710 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Ragged-red muscle fibers, Babinski sign, Growth delay, Myopathy, Decreased activity of mi... |
OMIM:618242 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Spastic dysarthria, Dystonia, Spasticity, Abnormal repetitive mannerisms, Progress... |
ORPHA:280763 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
ORPHA:158048 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... |
OMIM:162500 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Macrocytic anemia, Increased mitochondrial number, Tremor, Dysmetria, De... |
OMIM:615578 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevate... |
ORPHA:340 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, He... |
ORPHA:348 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Abnormal dental enamel morphology, Kyphosis, ... |
ORPHA:816 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... |
OMIM:617872 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Ataxia, Micrognathia, Tremor, Congestive heart failure, Thrombocytopenia, Flexion con... |
OMIM:616271 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... |
OMIM:617228 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Dystonia, Self-mutilation |
OMIM:619422 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Inguinal hernia, Cerebral palsy, Small for gestational age, Short stature, Highly arched eyebrow,... |
ORPHA:352490 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia |
ORPHA:1302 |
Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema,... |
ORPHA:381 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg... |
ORPHA:803 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... |
OMIM:137440 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Leukocytosis, Peritonitis, Neutropenia, Bradycardia, Hypotension, Abnormal g... |
ORPHA:391673 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Increased bone mineral density, Micrognathia, Coxa valga, Flattened epiphysis, Flat acetabular ro... |
ORPHA:163649 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L... |
ORPHA:319199 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Ataxia, Portal h... |
OMIM:615688 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomeg... |
ORPHA:42 |
Galloway-Mowat Syndrome 1 |
|
Dystonia, Ataxia, Micrognathia, Spastic tetraplegia, Hypoalbuminemia, Talipes equinovarus, Campto... |
OMIM:251300 |
Cernunnos-Xlf Deficiency |
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Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... |
ORPHA:98855 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Atrial Septal Defect, Sinus Venosus Type |
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Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... |
ORPHA:353327 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Chondrodysplasia, Blomstrand Type |
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Micromelia, Micrognathia, Fetal ascites, Generalized osteosclerosis, Squared iliac bones, Flared ... |
OMIM:215045 |
Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Cherry red spot of the macul... |
ORPHA:354 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
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Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations |
OMIM:619141 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Osteoporos... |
ORPHA:186 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Micrognathia, Prominent U wave, Abnormal T-wave, Periodic hypoka... |
ORPHA:37553 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardio... |
OMIM:251000 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Hypertonia, Hypotension, Abnormal rep... |
ORPHA:79155 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Thrombocytopenia, Hyperkalemia,... |
OMIM:617053 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Hemiplegia, Lymphopenia |
OMIM:182410 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Ataxia, Anorexia, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Lym... |
ORPHA:549 |
Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice,... |
ORPHA:676 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Decreased muscle mass, Short stature, Kyphosis, Distal arthr... |
OMIM:108145 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Microves... |
OMIM:617156 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Peripheral axonal neuropathy, Ataxia, Short stature, Impaired pain sensation, Kyphosis, Obesity, ... |
OMIM:618124 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Ragged-red muscle fibers, Decreased activity of mitochondrial complex III, Athetosis, Abn... |
OMIM:615159 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomega... |
ORPHA:667 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Psoriasis 14, Pustular |
|
Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, O... |
OMIM:614204 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Decreased compound muscle action potential amplitude, Flexion contracture, Shoulder... |
OMIM:603511 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia |
ORPHA:26137 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... |
ORPHA:208447 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Hype... |
OMIM:619386 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Abnormal repetitive mannerisms |
OMIM:617393 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Dyspha... |
OMIM:607483 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Congenital Analbuminemia |
|
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hyper... |
ORPHA:86816 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... |
OMIM:620141 |
Peroxisome Biogenesis Disorder 5B |
|
Joint laxity, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dy... |
OMIM:614867 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Pedal edema, Iron... |
ORPHA:97214 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Abnormal mitochondrial shape, Patent ductus arteriosus, Flexion contract... |
ORPHA:17 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia |
OMIM:619911 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn... |
ORPHA:254892 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Dila... |
OMIM:618120 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Cerebral palsy, Small for gestational age, Short stature, Highly arched eyebrow,... |
OMIM:615834 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... |
OMIM:300219 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Lipoatrophy, Short stature, Kyphoscoliosis, Motor neuron a... |
ORPHA:157954 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... |
OMIM:620161 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Thrombocytosis, Sclerosis of foot bone, Metaphyseal sc... |
ORPHA:2905 |
Pontocerebellar Hypoplasia, Type 11 |
|
Ataxia, Poor coordination, Limb ataxia, Self-injurious behavior, Attention deficit hyperactivity ... |
OMIM:617695 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, Palmoplantar ke... |
OMIM:611528 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Arthritis, Hyperostosis, E... |
ORPHA:2485 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial... |
ORPHA:3226 |
Camurati-Engelmann Disease |
|
Waddling gait, Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thicke... |
OMIM:131300 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Poor gross m... |
ORPHA:228360 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali... |
ORPHA:382 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age, Hirsutism, Short stature |
ORPHA:85288 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Dysphagia |
OMIM:607734 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegal... |
ORPHA:77261 |
Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... |
ORPHA:171881 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Atrial fibrillation, Craniosynostosis, Tremor, Congestive heart fail... |
ORPHA:525731 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowin... |
OMIM:620076 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Scoliosis |
ORPHA:640 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Dysmetria, Adductor lo... |
OMIM:210000 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Chronic axonal neuropathy, Impaired vibratory sensation, Skeletal muscle atro... |
ORPHA:88644 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Tapered finger, Flexion contracture, Interphalangeal thumb joint contracture, Hypert... |
OMIM:613870 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Brittle hair, Sparse eyelashes, Tremor, Kyphosis, Sparse eyebrow, Optic ... |
OMIM:617988 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Vasculitis, Ly... |
OMIM:617099 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Splenomegaly, Abnormali... |
ORPHA:2348 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ataxia, Paralysis, Ventricular tachycardia, Hypokalemia, Inc... |
OMIM:263800 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Spondyloli... |
ORPHA:270 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:610377 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Micrognathia, Tremor, Abnormality of the spleen, Osteopoikilosis, Clinodactyly... |
ORPHA:94063 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ataxia, Cardiac arrest, Anorexia, Spas... |
ORPHA:20 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Chorea, Hypertonia, ... |
ORPHA:2388 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi... |
OMIM:251900 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... |
OMIM:300623 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Masa Syndrome |
|
Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Ag... |
OMIM:303350 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Chorea, Abnormal pyramidal si... |
ORPHA:500180 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia |
OMIM:617056 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Cryptorchidism, Camptodactyly, Arthrogryposis mult... |
OMIM:618393 |
Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypovolem... |
ORPHA:173 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, ... |
OMIM:601104 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Wieacker-Wolff Syndrome |
|
Dystonia, Short stature, Facial palsy, Short neck, Hyperlordosis, Kyphosis, High anterior hairlin... |
OMIM:314580 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Short stature, Hyperlordosis, Kyphosis, ... |
ORPHA:3085 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Micrognathia, Hip dislocation, Hypertension, Hypoalbuminemia, Camptodactyly, Spas... |
OMIM:617729 |
De Sanctis-Cacchione Syndrome |
|
Severe short stature, Ataxia, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Sciss... |
OMIM:278800 |
Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Ataxia, Recur... |
ORPHA:1764 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Elevated circulating C-reactive protein concen... |
ORPHA:50918 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... |
ORPHA:420492 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Short stature, Abnormal retinal morphology, Albinism, Kyphosis, Platysp... |
ORPHA:2786 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Ataxia, Spontaneous hemolytic crises... |
ORPHA:822 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Palmoplantar keratoderma, Hypoalbuminemia, Craniosynostosis |
ORPHA:79396 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o... |
OMIM:619705 |
Barth Syndrome |
|
Abnormal mitochondrial morphology, Abnormality of neutrophils |
ORPHA:111 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Partial agenesis of th... |
OMIM:234050 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Pulmona... |
ORPHA:277 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali... |
ORPHA:170 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordosis, Kinetic tremor, Increase... |
OMIM:616817 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia, Micrognathia |
ORPHA:1237 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Broad-based gait, Diabetes mellitus, Ataxia, Insulin resistance, Dilated cardiomyopa... |
OMIM:616541 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr... |
OMIM:617718 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Hypertonia, Agitation, Myoclon... |
ORPHA:43116 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Ce... |
OMIM:203700 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hy... |
OMIM:618183 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Sideroblastic anemia, Abnormal iron deposition in mitochondria, Rhabdomy... |
OMIM:255125 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia |
OMIM:266150 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Proximal placement of thumb, Lymphopenia, Thrombocytopenia, Supravalvular aorti... |
OMIM:618624 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me... |
OMIM:619652 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... |
ORPHA:31826 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... |
ORPHA:99745 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... |
OMIM:214500 |
Familial Cervical Artery Dissection |
|
Abnormality of connective tissue, Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... |
ORPHA:572 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc... |
ORPHA:824 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Weaver Syndrome |
|
Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Camptodactyly of finger, Thin na... |
ORPHA:3447 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... |
OMIM:616503 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Clavicular sclerosis, Micrognathia, Absent frontal sinuses, S... |
OMIM:224300 |
Xfe Progeroid Syndrome |
|
Poor coordination, Hypertension, Hypoalbuminemia, Ascites, Pes cavus |
OMIM:610965 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Impulsivity, Tremor, Abnormal pyramidal sign, Neuromuscular dysphag... |
ORPHA:240071 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... |
ORPHA:178148 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Incoordination, Ataxia, Elevated circulating creatine kinase... |
ORPHA:480864 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis, An... |
ORPHA:2598 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of... |
ORPHA:289494 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe... |
ORPHA:1520 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Congestive heart failure, Leuko... |
OMIM:615895 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystonia, Spasticity |
OMIM:607694 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Polydipsia, Retroperitoneal fibrosis, Cong... |
ORPHA:35687 |
Barth Syndrome |
|
Fair hair, Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, ... |
OMIM:302060 |
Desmosterolosis |
|
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomeg... |
ORPHA:35107 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:614831 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... |
ORPHA:412066 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Pes planus, Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Limited k... |
ORPHA:36387 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... |
OMIM:613157 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper ... |
OMIM:614898 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, Jaundice, Schistocytos... |
OMIM:274150 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Decreased proportion of naive CD8 T cells, Ischemic stroke, Hypoplastic pelvis, Lymp... |
ORPHA:1830 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra... |
OMIM:251230 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Lower limb spasticity, Ataxia, Microvesicular hepatic steatosis, Repetitiv... |
ORPHA:66634 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive-compulsive trait, Recurren... |
ORPHA:544254 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Mitochondrial hypertrophy, Myopathy, Muscular dystrophy, Increased endomysial conne... |
OMIM:602541 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentrati... |
ORPHA:2785 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Dec... |
ORPHA:329478 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Joint stiffness, Raynaud phenomenon, Folli... |
OMIM:615934 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor... |
OMIM:601152 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Hyperammonemia, Spasticity, Bradycardia, Dystonia, Hyperalaninemia, H... |
OMIM:614702 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Abnormal muscle fiber morphology, Cryptorchidism, Camptodactyly of toe, Umbilica... |
OMIM:175700 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ab... |
OMIM:618342 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy,... |
ORPHA:139411 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Lipoatrophy, Splenom... |
ORPHA:79083 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction, Aplasia/Hypoplasia of the distal phalang... |
OMIM:192445 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Scoliosis, Dystonia, Weakness ... |
OMIM:618416 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, An... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618839 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Ove... |
OMIM:616738 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... |
ORPHA:565612 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Flexion contracture, Lymphade... |
OMIM:617591 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Dysphagia, Dystonia |
OMIM:304700 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Vocal cord paralysis, Leukopenia, Iron defic... |
OMIM:619488 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Severe short stature, Lipoatrophy, Kyphosis, Cryptorchidism, Low posterio... |
ORPHA:2617 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Limited mobility o... |
OMIM:222300 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Progressive gait ataxia, Retinal arteriolar constriction, Glio... |
ORPHA:191 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Hepatoblastoma, Short t... |
ORPHA:96334 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Slow-growing hair, Sparse... |
OMIM:300953 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Dystonia |
OMIM:168600 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Tachycardia, Increased circulating thyroglobulin level |
OMIM:609152 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Myositis, Abnormal intervertebral disk morphology, Parkinsonism, F... |
ORPHA:1320 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Palmoplantar keratoderma, Hypoalbuminemia, Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
Tonne-Kalscheuer Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Concave nail, Tremor, Cryptorchidism, Fine hair, ... |
OMIM:300978 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Christianson Syndrome |
|
Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Abnormal repetitive man... |
ORPHA:85278 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Intestinal bleeding, Ataxia,... |
OMIM:612199 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Hypocalcemic sei... |
OMIM:612301 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Chorea, Bruxism, Hemiparesis, Self-injurious behavior, Dystonia, Abnormal re... |
OMIM:618004 |
Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Tachycardia, Tremor, Hypertension, Pseudobulbar paralysis, Respirator... |
ORPHA:79276 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Tachycardia, Cardiac shunt, Maternal diabetes, Cardiomegaly, Congestive heart failu... |
ORPHA:860 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Short stature, Severe short st... |
OMIM:309900 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... |
OMIM:618291 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Short stature, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Macro... |
OMIM:300354 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Abnormal meta... |
ORPHA:39041 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Tetraparesis |
ORPHA:85277 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Arthritis, Iron deficien... |
OMIM:301074 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Upper limb spasticity, Abnormal repetitive mannerisms, Self-mutil... |
ORPHA:457240 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Mi... |
ORPHA:85184 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... |
ORPHA:137675 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy... |
ORPHA:1433 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Galactokinase Deficiency |
|
Speech apraxia, Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level... |
ORPHA:79237 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Macrocytic anemia, Impaired lymphocyte transformation with p... |
OMIM:250250 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Peripheral axonal neuropathy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contract... |
OMIM:616866 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Myoclonus, Spasticity, Anemia |
OMIM:246450 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Ataxia, Optic atrophy... |
ORPHA:543470 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... |
ORPHA:40 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Decreased body weight |
OMIM:618392 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax... |
ORPHA:70595 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Inappropriate laughter, Abnormal repetitive mannerisms, St... |
OMIM:614104 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Stiff neck, Elevated circulating C-reactive protein concentration, Myocard... |
ORPHA:319213 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula... |
ORPHA:423 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dystonia |
OMIM:168605 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... |
ORPHA:811 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Small for gestational age, Dorsocervical fat pad, Kyphoscoliosis, Short neck, Proportionate short... |
ORPHA:391408 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital fibrosis of extraocular muscles, Kyphosis, Highly arched eyebrow |
OMIM:609384 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... |
ORPHA:280365 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Flexion contracture, Unsteady gait, Slurred speech, Leg muscle stiffness,... |
ORPHA:137898 |
Colchicine Poisoning |
|
Hyponatremia, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolemia, Abnormal blood io... |
ORPHA:31824 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Opisthotonus, T lymphocytopenia, Hypertonia, Narrow greater... |
ORPHA:508533 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Inguinal hernia, Lipodystrophy, Short stature, Thick hair, Subretinal pigm... |
ORPHA:357074 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Calf muscle pseudohypertrophy, Neurogenic bladder, Ataxia, Short st... |
ORPHA:96180 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Dysphagia, Limb hypertonia |
OMIM:617162 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula... |
OMIM:606002 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Short stature, Hirsutism, Scoliosis |
OMIM:300434 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur... |
OMIM:313420 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Optic disc hypoplasia, Ataxia, Microcytic anemia, Abnormal hair morphology, K... |
ORPHA:324737 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Focal ... |
ORPHA:52368 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Waddling gait, Pancytopenia, Transient ischemic attack, Thrombocytopenia, Neutropenia... |
OMIM:242900 |
Hypokalemic Periodic Paralysis |
|
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li... |
ORPHA:681 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Lymphopenia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis, Paralysis, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Nipah Virus Disease |
|
Tremor, Myoclonus, Anorexia |
ORPHA:99825 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... |
ORPHA:228402 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Kyphosis, Optic atrophy, Choreoath... |
ORPHA:702 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Werner Syndrome |
|
Increased bone mineral density, Telangiectasia of the skin, Rocker bottom foot, Myocardial infarc... |
ORPHA:902 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Gait ataxia, Abnormal optic nerve morphology, Tongue f... |
ORPHA:99949 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long e... |
OMIM:616455 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Spasticity, Abnormal repetitive mannerisms, Involuntary movements, Dysphagia |
ORPHA:572013 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Viral hepatitis, Diabetes mellitus, Hepatocellular ... |
ORPHA:101330 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased muscle mass, C... |
ORPHA:298 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Inguinal hernia, Ataxia, Cryptorchidism, Fine hair, Sparse hair |
ORPHA:1174 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Spasticity, ... |
ORPHA:2429 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypoglycemia, Hyperc... |
ORPHA:199299 |
Sézary Syndrome |
|
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Abnormal lymphocyt... |
ORPHA:3162 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Opisthotonus, Choreoathetosis, Gait a... |
OMIM:619580 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus |
OMIM:616113 |
Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort... |
ORPHA:1328 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Spinal rigidity, Increas... |
ORPHA:324604 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Sho... |
OMIM:241410 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj... |
ORPHA:53035 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Inguinal hernia, Tethered cord, Neurogenic bladder, Shor... |
OMIM:130720 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Hyperlipidemia, Pedal edema, Hypertension, Hypoalbuminemia, Ascites |
ORPHA:567546 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hematoc... |
ORPHA:79095 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Kyphosc... |
ORPHA:99956 |
Hijazi-Reis Syndrome |
|
Ankle clonus, Lower limb spasticity, Abnormal repetitive mannerisms |
OMIM:301094 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyp... |
OMIM:251100 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Macular degeneration, Abnormality of m... |
ORPHA:1573 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Impulsivity, Tremor, Rigidity, Myoclo... |
ORPHA:442835 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoalbuminemia, Hepatic fibrosis, I... |
OMIM:619534 |
Mcdonough Syndrome |
|
Short stature, Cachexia, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:2471 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... |
OMIM:610042 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Scoliosis, Hypertrichosis |
ORPHA:85317 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... |
ORPHA:98784 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Fasting ... |
OMIM:613027 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia, Abnormal form of the... |
ORPHA:93941 |
Incontinentia Pigmenti |
|
Ridged nail, Hemivertebrae, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of th... |
OMIM:308300 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Fg Syndrome 3 |
|
Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture, Agenesis of c... |
OMIM:300406 |
Xq28 (MECP2) duplication |
|
Abnormal repetitive mannerisms, Dysphagia, Progressive spasticity, Gait ataxia |
DECIPHER:45 |
Sulfite Oxidase Deficiency, Isolated |
|
Generalized dystonia, Ataxia, Cerebral atrophy, Fine hair, Choreoathetosis, Hypertonia, Hemiplegia |
OMIM:272300 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Delayed puberty, Scheuermann-like ve... |
OMIM:301900 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Hyperlordosis, Spastic diplegia, Growth delay, Camptodactyly, Sparse hair, Enamel hyp... |
OMIM:619980 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Diastasis rect... |
OMIM:253220 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Partial agenesis of the corpus callosum, Optic atrophy, Vocal cord paralysis,... |
ORPHA:500144 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Splenomegaly, Hy... |
ORPHA:90041 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
Ogden Syndrome |
|
Congenital hip dislocation, Maternal diabetes, Micrognathia, Cardiomegaly, Microvesicular hepatic... |
OMIM:300855 |
Double Outlet Right Ventricle |
|
Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Brittle hair, Small for gestational age, Failure to thrive in infancy, Short ... |
OMIM:618891 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Micrognathia, Tremor, Aggressive behavior, Jaundice, Flexion contracture, Hypertonia, Clinodactyl... |
OMIM:608093 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder... |
ORPHA:79254 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy, Decreased testicular size |
ORPHA:1875 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel... |
ORPHA:1988 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, D... |
OMIM:615530 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Joint stiffness, Splenomegaly, Aggressive behavior, As... |
OMIM:252920 |
Livedoid Vasculopathy |
|
Enlargement of the ankles, Diabetes mellitus, Telangiectasia of the skin, Pancytopenia, Abnormal ... |
ORPHA:542643 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Right ventricular failure, Cardiome... |
ORPHA:1329 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Metatropic Dysplasia |
|
Relatively short spine, Peripheral axonal neuropathy, Severe short stature, Kyphoscoliosis, Hypop... |
OMIM:156530 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... |
ORPHA:169160 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Frontal hirsutism, Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle f... |
OMIM:612949 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an... |
OMIM:618775 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Chorea, Athetosis, Joint hype... |
ORPHA:52503 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hype... |
OMIM:620285 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Micrognathia, Spastic t... |
OMIM:617237 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Short stature, Congenital diaphragmatic hernia, Postnatal growth retar... |
ORPHA:94065 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlip... |
OMIM:232220 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Br... |
OMIM:619063 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia |
OMIM:620365 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D... |
OMIM:614381 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Overlapping toe, Ataxia, Spastic tetraparesi... |
OMIM:618598 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... |
OMIM:271530 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Tick-Borne Encephalitis |
|
Speech apraxia, Stiff neck, Incoordination, Elevated circulating C-reactive protein concentration... |
ORPHA:297 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... |
OMIM:618733 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Abscess, Anorexia, Myocarditis, Leukocytosis, Peritonitis, Abnormal b... |
ORPHA:810 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... |
OMIM:607485 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li... |
OMIM:608643 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Abnormal circulating fatty-ac... |
ORPHA:139396 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... |
OMIM:312080 |
Cockayne Syndrome A |
|
Dry hair, Abnormal peripheral myelination, Tremor, Sparse hair, Loss of facial adipose tissue, Re... |
OMIM:216400 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase... |
OMIM:619424 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
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Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... |
OMIM:619121 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Short iliac bones, Metaphyseal sclerosis, Raynaud phenomenon, Metaphyseal ... |
OMIM:607944 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Short stature, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, ... |
OMIM:301041 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Pulmonary venous hypertensio... |
ORPHA:90060 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Tricuspid regurgitation, Noncompaction cardiomyopathy, Congestiv... |
ORPHA:508542 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased susceptibility to fractures, Talipes equinovarus, Neutropenia, Lymphopenia, Reduced nat... |
OMIM:619752 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Kyphosis, Synophrys, Growth delay, Scoliosis |
ORPHA:505652 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered finger, Partial absen... |
ORPHA:476126 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Micrognathia, Facial hyperostosis, High iliac wing, Aortic valve ... |
ORPHA:2780 |
Baralle-Macken Syndrome |
|
Kyphosis, Obesity, Dystonia, Global brain atrophy, Spasticity, Hirsutism |
OMIM:619255 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tapered finger, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Stepp... |
OMIM:616505 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Hepatomegaly, Speech apraxia, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:615356 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Palmoplantar keratoderma, Paroxys... |
ORPHA:34217 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Short metatarsal, Prominent U wave, Short palm, Clinodactyly of the 5th finger, Per... |
OMIM:170390 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Inguinal hernia, Optic nerve hypoplasia, Camptodactyly of finger, Facial p... |
ORPHA:261349 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi... |
OMIM:211530 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... |
ORPHA:485421 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Rett Syndrome |
|
Skeletal muscle atrophy, Dystonia, Short stature, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, ... |
OMIM:312750 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Congestive heart failure, Splenom... |
OMIM:615512 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Thr... |
OMIM:169400 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi... |
ORPHA:94080 |
Hemifacial Atrophy, Progressive |
|
Ataxia, Poliosis, Kyphosis, Horner syndrome, Patchy alopecia |
OMIM:141300 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased... |
OMIM:620278 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Aggressive behavior, Tremor, Thrombocytopenia, Positional foot deformity, Spastic tetrapl... |
ORPHA:572798 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, L... |
ORPHA:520 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Hemiplegia/hemiparesis, Arrhythmia, Transient h... |
ORPHA:156 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Decreased serum iron, Pul... |
ORPHA:447 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper motor neur... |
ORPHA:530983 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia |
ORPHA:3454 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Micrognath... |
ORPHA:904 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Incoordination, Elevated circulating creatinine concentrati... |
OMIM:223900 |
Trisomy 20P |
|
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Vertebral segmentation ... |
ORPHA:261318 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Mirizzi Syndrome |
|
Tachycardia, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia, Cholel... |
ORPHA:521219 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Lipodystrophy, Paralysis, Rigidity, Abnormal eyelash morphology, Cerebral atrophy, Tetr... |
ORPHA:2396 |
Mucopolysaccharidosis, Type Iiic |
|
Kyphoscoliosis, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebrae, Coarse hair, Hernia, Beak... |
OMIM:252930 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow greater sciatic not... |
OMIM:617425 |
4Q21 Microdeletion Syndrome |
|
Short neck, Tremor, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrauterine gr... |
ORPHA:238750 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Osteopetrosis, Hepatomegaly |
OMIM:618541 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong... |
OMIM:601214 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism |
OMIM:600274 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Left bundle branc... |
OMIM:610131 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Short stature, Abnormal hair morp... |
ORPHA:2963 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia,... |
ORPHA:529665 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral ... |
OMIM:615911 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Ogden Syndrome |
|
Torticollis, Inguinal hernia, Postnatal growth retardation, Cryptorchidism, Cerebral atrophy, Fin... |
ORPHA:276432 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Short stature, Obesity, Scoliosis |
ORPHA:276630 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia,... |
ORPHA:3008 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Optic atrophy, Abnormal pyramida... |
OMIM:617527 |
Winchester Syndrome |
|
Kyphosis, Hirsutism |
OMIM:277950 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Retinal dystrophy, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed p... |
OMIM:180870 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Cardiac arrest, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Microg... |
ORPHA:90652 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Hyperlordosis, Abnormal muscle fiber morpho... |
ORPHA:3068 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Neurogenic bladder, Highly arched eyebrow, Type 2 muscle fiber predominance, Increased variabilit... |
OMIM:619173 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... |
ORPHA:97279 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Abnormal mitochondrial shape, Generalized dystonia, Cerebral atrophy, Macrogl... |
ORPHA:412217 |
Poliomyelitis |
|
Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,... |
ORPHA:2912 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Decreased serum zinc |
OMIM:201100 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Costello Syndrome |
|
Deep-set nails, Failure to thrive in infancy, Abnormal dental enamel morphology, Short stature, S... |
ORPHA:3071 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Cardiomegaly, Hepato... |
OMIM:268800 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Spasticity, Glucose intoleran... |
OMIM:616539 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee oste... |
ORPHA:1304 |
Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Abscess, Eosinophilia, Vasculitis in the skin, Myoclonus, Neutropenia, ... |
OMIM:615816 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... |
ORPHA:1782 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy... |
ORPHA:1021 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity |
OMIM:616586 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Elevated circulating a... |
OMIM:276700 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia... |
ORPHA:239 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased ... |
OMIM:127550 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of... |
ORPHA:1883 |
Melas |
|
Peripheral axonal neuropathy, Abnormal central motor function, Ataxia, Short stature, Ragged-red ... |
ORPHA:550 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel... |
ORPHA:268882 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... |
OMIM:600430 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Micrognathia, Head titubation, Dysmetria, Knee flexion contracture, Dysphagia, Bilateral ... |
OMIM:619708 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, T... |
OMIM:222700 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Appendicular spasticity, Short neck, Partial agenesis of the corpus callosum, Synophrys, Obesity,... |
OMIM:620250 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Dysphagia, Blepharospasm, Bradykinesia, Dystonia |
ORPHA:683 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Compulsive behaviors, Spasticity, ... |
OMIM:618430 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171300 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Kyphoscoliosis, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Lat... |
OMIM:620075 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Attention de... |
OMIM:620242 |
Cockayne Syndrome B |
|
Dry hair, Abnormal peripheral myelination, Tremor, Sparse hair, Loss of facial adipose tissue, At... |
OMIM:133540 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ... |
ORPHA:646 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Raine Syndrome |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognathia, Subperiosteal... |
OMIM:259775 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Short stature, Kyphosis, Cryptorchidism, Flexion contracture, Obesi... |
OMIM:615547 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyper... |
ORPHA:79102 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Ataxia, Rigidity, Repetitive compulsive behavior, Chorea, Dysphagia, Progr... |
OMIM:300260 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Sparse eyelashes, K... |
ORPHA:35173 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Severe short stature, Short neck, Kyphosis, Cherry red spot of the macula, Vacuo... |
OMIM:230500 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrh... |
ORPHA:3260 |
Weaver Syndrome |
|
Deep-set nails, Inguinal hernia, Diastasis recti, Thin nail, Kyphosis, Cryptorchidism, Patent duc... |
OMIM:277590 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Abnormal epiphysis morpholo... |
ORPHA:1798 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Osteopenia, Sandal gap, Short toe, Pulmonic stenosis, Clinodactyly of the 5th f... |
OMIM:617877 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Hypoglycemia |
OMIM:229700 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre... |
ORPHA:230 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Left ventricular hyp... |
OMIM:613873 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Synophrys, Broad nail, Skeletal muscle hy... |
OMIM:300280 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic ... |
OMIM:617925 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly, Mitral regurgitation, Myoclonus, Spasticity |
ORPHA:309155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Optic atrophy, Pigmentary retinopathy, Lateral ventricle dilatation, Retinal... |
OMIM:613154 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Spasticity, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardi... |
ORPHA:79255 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Short stature, Optic nerve hypoplasia, Sparse eyelashes, Scoliosis, S... |
OMIM:615280 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progress... |
ORPHA:43 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Contractures of the large joints... |
ORPHA:521426 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Facial palsy, Autophagic vacuoles, Tremor, Weight loss, Distal amyotrophy, Brain atrophy,... |
OMIM:164310 |
Sarcoidosis |
|
Hemolytic anemia, Abnormal cardiac ventricular function, Hepatomegaly, Hypercalcemia, Portal hype... |
ORPHA:797 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Scoliosis, Hirsutism |
OMIM:300861 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... |
OMIM:182290 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Reduced bone mineral den... |
ORPHA:83629 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Emanuel Syndrome |
|
Torticollis, Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Kyphosis, Cryptorch... |
OMIM:609029 |
Hurler Syndrome |
|
Inguinal hernia, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion... |
OMIM:607014 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Inguinal hernia, Short neck, Postnatal growth retardation, Kyphosis, Crypt... |
OMIM:248700 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Bilateral cryptorchidism, Synophrys, Hypertonia, Thoracic kypho... |
OMIM:602535 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Compulsive behaviors, Attention... |
OMIM:300986 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy, Frontal... |
OMIM:619797 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Dense ... |
OMIM:252900 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Tethered cord, Ataxia, Congenital diaphragmatic hernia, Highly arched eyebrow, Kyp... |
ORPHA:280 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Bruxism, Athetosis, Dystonia, Spasticity, Apraxia, Abnormal repetitive ... |
OMIM:613454 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Dysplastic corpus callosum, Ragged-red muscle fibers, Decreased activity of... |
OMIM:614924 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Lower limb spasticity, Hyperactivity, Clonus, Spastic paraplegia, Babinski sign, Upper limb spast... |
OMIM:609727 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... |
OMIM:618914 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Osteomyelitis, Rectal abscess, Elevated circulating C-reactive protein concentration |
OMIM:116920 |
Liver Disease, Severe Congenital |
|
Micrognathia, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, ... |
OMIM:619991 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair, Scoliosis... |
OMIM:219200 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms |
ORPHA:529965 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Myoclonus, Inappropria... |
ORPHA:98794 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... |
OMIM:619040 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Overlapping toe, Genu recurvatum, Cl... |
OMIM:617301 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Highly arched eyebrow, Corpus callosum atrophy, Kyphosis, Cryptorchidism, Low ante... |
OMIM:619244 |
Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Abnormal circulating cholesterol concentrat... |
OMIM:602398 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas... |
OMIM:119600 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Polycythemia, Mitochondrial swelling, Optic atrophy, Cerebra... |
OMIM:606812 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... |
OMIM:607155 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... |
OMIM:130060 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Anemia |
ORPHA:71273 |
Urachal Cyst |
|
Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Per... |
ORPHA:488 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydacty... |
OMIM:263520 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Impaired vibratory sensation, Retinal detachment, Peripheral axonal neuropathy, Decreased muscle ... |
ORPHA:1900 |
Acrogeria |
|
Short stature, Lipoatrophy, Scoliosis, Fine hair |
ORPHA:2500 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Short stature, Highly arched eyebrow, Low posterior hairline, Scoliosis, Camptodactyl... |
OMIM:617360 |
Mucopolysaccharidosis Type 3 |
|
Synophrys, Flexion contracture, Abnormal pyramidal sign, Abnormal form of the vertebral bodies, C... |
ORPHA:581 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Supr... |
ORPHA:99829 |
Becker Nevus Syndrome |
|
Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle mus... |
ORPHA:64755 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short stature, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyphosis,... |
ORPHA:3082 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Attention deficit hyperac... |
OMIM:619680 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
Trisomy 13 |
|
Abnormal retinal vascular morphology, Kyphosis, Cryptorchidism, Abnormal eyelash morphology, Opti... |
ORPHA:3378 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Kyphosis, Cryptorchidism, Optic atrophy, Gene... |
ORPHA:2510 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... |
ORPHA:276 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms, Myoclonus |
ORPHA:411986 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:619334 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst... |
OMIM:613150 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Myoclonus, Spasticity, Obsessive-compulsive trait, Ab... |
ORPHA:168491 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Facial hypotonia, Short stature, Kyphosis, Cryptorchidism, Babinski sign, Myo... |
ORPHA:364028 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Limited hip extension, Flexion contracture, Retinal he... |
OMIM:614653 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo... |
OMIM:112250 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, Hyperlordosis |
OMIM:614198 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Hypercalcem... |
ORPHA:95409 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Thoracic scoliosis, Short neck, Macroglossia, Hypoplasia of the thymus,... |
OMIM:617022 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Short stature, Postnatal growth retardation, Fine hair, Long eyelashes... |
ORPHA:231137 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Maturity-onset d... |
ORPHA:1578 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Short stature, Kyphosis, Optic atro... |
ORPHA:192 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Spasticity, Dystonia, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:617807 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Oculodentodigital Dysplasia |
|
Curly hair, Neurogenic bladder, Brittle hair, Ataxia, Abnormal dental enamel morphology, Camptoda... |
ORPHA:2710 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Head titubation, Sparse eyebrow, Babinski sign, Craniofacial dystonia, Spastic diplegia, Ankle cl... |
OMIM:619691 |
Noonan Syndrome 8 |
|
Curly hair, Short stature, Short neck, Large for gestational age, Cryptorchidism, Patent ductus a... |
OMIM:615355 |
Vici Syndrome |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Micrognathia, C... |
OMIM:242840 |
Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Diastasis recti, Large for gestational age, Cryptorchidism, Umbilical her... |
OMIM:616638 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Ataxia, Short stature, Cryptorchidism, Chorea, Athetosis, Scoliosis, Agenesis of corp... |
OMIM:619435 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia, Anemia |
OMIM:618182 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Fair hair, Small for gestational age, Short stature, Abnormality... |
OMIM:610443 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Cryptorchidism, Abnormality of skeletal muscle fiber size... |
ORPHA:168572 |
Noonan Syndrome 14 |
|
Curly hair, Scapular winging, Short stature, Short neck, Sparse eyebrow, Kyphosis, Cryptorchidism... |
OMIM:619745 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Hypercalcem... |
ORPHA:85138 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Lower limb spasticity, Foot joint contracture, Ataxia, Tremor, Hypertension, Gait d... |
ORPHA:90321 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Hypertonia, Abnormal repetitive mannerisms |
OMIM:619877 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio... |
OMIM:234250 |
Rett Syndrome |
|
Limb apraxia, Bradykinesia, Agitation, Dystonia, Abnormal repetitive mannerisms, Stereotypical ha... |
ORPHA:778 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Small for gestational age, Short stature, Trichoschisis, Flexion contracture, Absen... |
OMIM:601675 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Short... |
ORPHA:193 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Rigidity, Falls, Difficulty walking |
ORPHA:3198 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,... |
ORPHA:2311 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity |
OMIM:616720 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle atrophy, Postn... |
OMIM:612394 |
Gitelman Syndrome |
|
Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Hypocalcemia, Prominent U wave, A... |
ORPHA:358 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair |
ORPHA:1264 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Hepatic steatosis, Hepatomegaly, Osteoporosis, Increased susce... |
ORPHA:79259 |
Plague |
|
Hepatomegaly, Tachycardia, Anorexia, Hematemesis, Splenomegaly, Lymphadenitis, Unsteady gait, Slu... |
ORPHA:707 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... |
ORPHA:2635 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Ataxia, Short stature, Ragged-red muscle fibers, Pigmentary retinopathy |
OMIM:530000 |
Pmm2-Cdg |
|
Osteopenia, Pes planus, Joint laxity, Multiple joint contractures, Ataxia, Angina pectoris, Peric... |
ORPHA:79318 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Hyperlysinemia |
|
Neck hypertonia, Hyperactivity, Poor motor coordination, Craniosynostosis, Spastic tetraparesis, ... |
ORPHA:2203 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures, Abnormality of extrapyramidal motor fu... |
ORPHA:320406 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint mo... |
ORPHA:32960 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Speech apraxia, Hepatomegaly, Splenomegaly, Lymphopenia |
OMIM:605309 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... |
OMIM:277400 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereoty... |
OMIM:300912 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Fucosidosis |
|
Decreased muscle mass, Lipoatrophy, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anter... |
ORPHA:349 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Short stature, Cryptorchidism, Fine hair, Growth... |
OMIM:613990 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventr... |
OMIM:259900 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Reynolds Syndrome |
|
Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice... |
OMIM:613471 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Dystonia, Spasticity |
ORPHA:2828 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair, Spina bifida occulta, Optic atrophy, Short stature |
ORPHA:1185 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of ... |
ORPHA:84064 |
Porphyria, Acute Intermittent |
|
Tachycardia, Paralysis, Hypertension, Respiratory paralysis, Hepatocellular carcinoma |
OMIM:176000 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Reduced bone mineral density, Long fibula, Abnormal metaphysis morph... |
ORPHA:935 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Spasticity, Hypertonia, Join... |
OMIM:616881 |
48,Xxyy Syndrome |
|
Tremor, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:10 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Head tremor |
OMIM:619428 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Failure to thrive, Brittle hair, Ataxia, Ragged-red muscle fibers, Rhabdomyol... |
OMIM:124000 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Sparse hair, Thoracolumbar kyphoscoliosis, Sparse eyebrow, Hypoplasia of the odonto... |
OMIM:252500 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Thoracic scoliosis, Pilonidal sinus, Inguinal hernia, Short stature, Thick ey... |
OMIM:252940 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Pain insensitivity, Thick eyebrow, Tremor, Kyphosis, Synophrys, Patent ductus a... |
OMIM:617061 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, ... |
ORPHA:77293 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Short stature, Short neck, Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, O... |
OMIM:614800 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Retinal detachment, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, S... |
ORPHA:94068 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Neonatal h... |
OMIM:619418 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Distal Duplication 6P |
|
Abnormal hair quantity, Sacral dimple, Short stature, Short neck, Abnormal eyelash morphology, Fi... |
ORPHA:1745 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, T... |
ORPHA:391487 |
Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Abnormal repetitive mannerisms, Agitation, Ataxia, Paraplegia |
ORPHA:927 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism |
OMIM:618512 |
Alpha-Mannosidosis |
|
Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Macroglossia, Scoliosis |
ORPHA:61 |
Hypomelanosis Of Ito |
|
Kyphosis, Alopecia, Scoliosis, Cerebral atrophy |
OMIM:300337 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Retinal dystrophy, Muscular dystrophy |
OMIM:616538 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Hy... |
ORPHA:85293 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Abnormal optic nerve morphology, Hypopigmentation of the fundus |
ORPHA:77300 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Short neck, Hyperlordosis, Kyphosis, Chorea, Tremor, Abnormal pyram... |
ORPHA:58 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Lymphadenopathy, Arthritis, Leukopenia, Ascites, Microangiopathic hemolytic a... |
ORPHA:93552 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting |
ORPHA:3306 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms |
OMIM:617682 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Macroglossia, Gene... |
ORPHA:2221 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Micrognathia |
ORPHA:2268 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Trichothiodystrophy 3, Photosensitive |
|
Hypertonia, Abdominal adhesions, Lymphopenia, Neutropenia |
OMIM:616395 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature, Ankle flexion contracture |
OMIM:619985 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... |
ORPHA:449291 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
3C Syndrome |
|
Inguinal hernia, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Optic atrophy... |
ORPHA:7 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Incr... |
OMIM:232800 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Zttk Syndrome |
|
Curly hair, Short stature, Sparse eyebrow, Dysplastic corpus callosum, Kyphosis, Flexion contract... |
OMIM:617140 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Small for gestational age, Sparse eyelashes, Spina bifida, Hyperlordosis, Prop... |
OMIM:234100 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Jaundice, Dysphagia, Hypertonia, Bradycardia, Neutropenia, Neonatal hyp... |
OMIM:617248 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Hawkinsinuria |
|
Sparse hair, Failure to thrive, Fine hair |
ORPHA:2118 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Progr... |
OMIM:207800 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the o... |
OMIM:183900 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis |
ORPHA:1545 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lympho... |
ORPHA:319218 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Peripheral axonal neuropathy, Curly hair, Short stature, Slow-growing hair, Short... |
OMIM:115150 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Short stature, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Spa... |
OMIM:129500 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis... |
ORPHA:90322 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
Craniofrontonasal Syndrome |
|
Ridged nail, Split nail, Curly hair, Unilateral breast hypoplasia, Short stature, Congenital diap... |
OMIM:304110 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,... |
OMIM:208500 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlip... |
OMIM:232240 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-5th fi... |
OMIM:609128 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Talipes calcaneovalgus... |
OMIM:610217 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Palmoplantar keratoderma, Ventricular tachycardia, Syncope |
OMIM:615821 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Intrauterine growth retardation, Optic nerve hypoplasia, Lower limb spasticity, Fine hair |
ORPHA:363686 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity |
OMIM:618201 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Inguinal hernia, Short stature, Megaloblastic anemia, Abnormality of hair texture, Spastic tetrap... |
ORPHA:79351 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Short stature, Curly eyelashes, Short neck, Cryptorchidism, Multiple rows of eyelashe... |
ORPHA:163654 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachycardia, Insulin resistanc... |
ORPHA:273 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Failure to thrive in infancy, Short stature, Slow-growing hair, Short neck, Abnorma... |
ORPHA:1340 |
Chops Syndrome |
|
Curly hair, Short stature, Thick hair, Splenomegaly, Cryptorchidism, Synophrys, Optic atrophy, Ob... |
OMIM:616368 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
Trichorhinophalangeal Syndrome, Type I |
|
Scapular winging, Short stature, Thin nail, Slow-growing hair, Hyperlordosis, Concave nail, Leuko... |
OMIM:190350 |
Hall-Riggs Syndrome |
|
Short stature, Abnormal dental enamel morphology, Thick hair, Slow-growing hair, Platyspondyly, C... |
ORPHA:2107 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Ab... |
ORPHA:2131 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Optic atrophy, Obesity, Scol... |
OMIM:618493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration, Flexion contrac... |
OMIM:253800 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Spasticity, Hyperto... |
OMIM:617864 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid... |
ORPHA:2890 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Aggressive behavior, Hypertonia, Poor hand-eye coordination, Dystonia, Attention ... |
OMIM:300352 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Short stature, Hyperlordosis, Kyphosis, Syno... |
OMIM:618443 |
Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Retinal dystrophy, Kyphosis, Low anterior hairline, Obesity, Rod-cone dyst... |
ORPHA:261222 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Small for gestational age, Woolly hair, Uncombable hair, Sparse hair, Intrauterine ... |
OMIM:614602 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis |
OMIM:615761 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
OMIM:610883 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Dysph... |
OMIM:619312 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic neuropathy, Splenom... |
OMIM:252010 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... |
ORPHA:522077 |
2Q32Q33 Microdeletion Syndrome |
|
Short stature, Fine hair, Growth delay, Sparse hair, Decreased testicular size |
ORPHA:251019 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Kyphosis, Patent ductus arteriosus, Low anterior hairline, Spastic tetrapleg... |
OMIM:619909 |
Immunodeficiency 31C |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... |
OMIM:614162 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Short stature, Long eyebrows, Short neck, Cryptorch... |
OMIM:613224 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... |
OMIM:206920 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Thick eyebrow, Short stature, Splenomegaly, Optic atrophy, C... |
ORPHA:585 |
Opitz-Kaveggia Syndrome |
|
Sacral dimple, Multiple joint contractures, Lumbar hyperlordosis, Inguinal hernia, Short stature,... |
OMIM:305450 |
Listeriosis |
|
Stiff neck, Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Ch... |
ORPHA:533 |
Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Hurler-Scheie Syndrome |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Contracture of th... |
OMIM:607015 |
Urban-Rogers-Meyer Syndrome |
|
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Obesity, Flexion co... |
ORPHA:3409 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Rod-cone dystrophy, Chorea, Ragged-red ... |
ORPHA:255210 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Postnatal growth retardation, Sparse scalp hair, Fine hair |
ORPHA:2324 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy... |
ORPHA:1882 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Cryptorchidism, C... |
ORPHA:261250 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental... |
ORPHA:2916 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Exaggerated startle response, Broad-based gait, Involuntary movements, ... |
ORPHA:438213 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Hypertonia, Abnormal repetitive mannerisms, Self-mutilation, ... |
OMIM:123450 |
Shashi-Pena Syndrome |
|
Highly arched eyebrow, Kyphosis, Synophrys, Patent ductus arteriosus, Hypertrichosis, Limb hypert... |
OMIM:617190 |
Kleefstra Syndrome 2 |
|
Growth delay, Kyphosis, Thick eyebrow, Scoliosis |
OMIM:617768 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Agenesis of corpus callosum, Decreased testicular size, Cryptorchidism |
OMIM:615433 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Art... |
OMIM:260920 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Rickets, Glycosuria, Hypophosphatemia |
OMIM:616026 |
Bruck Syndrome 1 |
|
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V... |
OMIM:259450 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Kyphosis, Cryptorchidism, Synophrys, Obesity, Scoliosis, Arthrogryposis multiplex con... |
ORPHA:254346 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal repetitive mannerisms |
OMIM:613443 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619133 |
Stickler Syndrome, Type I |
|
Retinal detachment, Kyphosis, Platyspondyly, Vitreoretinopathy, Membranous vitreous appearance, R... |
OMIM:108300 |
Cerebrofaciothoracic Dysplasia |
|
Short stature, Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Low posterior hairlin... |
ORPHA:1394 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... |
ORPHA:137834 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Abnormal rep... |
ORPHA:261197 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture, Thoracic kyphosis, Myoclonus, Oculomotor apraxia, Cherry red spot of... |
ORPHA:2752 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Incre... |
ORPHA:93314 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Short stature, Short neck, Scoliosis, Failure to thrive |
OMIM:615279 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abn... |
ORPHA:96169 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural hemorrhage, Re... |
ORPHA:25 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Short neck, Hypoplastic toenails, Kyphos... |
ORPHA:251014 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... |
OMIM:265800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Spasticity, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Distal Triplication 15Q |
|
Large for gestational age, Kyphosis, Patent ductus arteriosus, Flexion contracture, Hydrocele tes... |
ORPHA:314588 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Punding, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Short stature, Impaired temperature sensation, Kyphosis, Cryptorchidism... |
ORPHA:398069 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Overlapping toe, Ataxia, Microcytic anemia, Leukocytosis, Impaired ta... |
ORPHA:99843 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Inguinal hernia, Severe short stature, ... |
ORPHA:2215 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Noonan Syndrome 5 |
|
Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Large for gestational age,... |
OMIM:611553 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Arachnodactyly, Ataxia, Akinesia, Aggressive behavior, Tremo... |
ORPHA:86309 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Kyphosis, Cryptorchidism, Scoliosis,... |
OMIM:615381 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Peripheral axonal neuropathy, Absent eyebrow, Fine hair, Sparse hair |
OMIM:615278 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Myocarditis, Leukocytosis, Thro... |
ORPHA:544482 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Splenomegaly, Synophrys, Patent ductus arteriosus, Cerebral atrophy, Macroglossia, Co... |
OMIM:618268 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, ... |
ORPHA:1969 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Postaxial polydactyly, Micrognathia, Dysphagia, Joint contracture, Hyper... |
OMIM:618460 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Sacral dimple, Pain insensitivity, Widow's peak, Fine hair, Horizontal eyebrow |
OMIM:615828 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Clonus, Micrognathia, Tremor, Spastic tetraplegia, Large hands, Hyp... |
OMIM:615574 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Ataxia, Portal hypertension, Tremor, Splenomegaly, Postaxial hand polydactyly, Cong... |
ORPHA:1454 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Small for gestational age, Short stature, Slow-growing hair, Mild intrauterine grow... |
OMIM:616943 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyra... |
ORPHA:51 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi... |
ORPHA:276621 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, D... |
OMIM:610505 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Hemolytic anemia, Paralysis |
OMIM:612300 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal cord compression, Fused cervical verte... |
ORPHA:2522 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Ataxia, Tremor, Hyperammonemia, Hypertension, Arrhythmia, Hyperalaninemia, Hyp... |
OMIM:614052 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Short stature, Optic nerve hypoplasia, Highly arched eyebrow, Short neck, Slow-growin... |
OMIM:617506 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Postnatal growth retardation, Kyphosis, Tr... |
OMIM:300966 |
Microphthalmia, Lenz Type |
|
Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Cryptorchidism, Optic disc colob... |
ORPHA:568 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Heart block, Raynaud phenomenon, Generalized osteosclerosis, ... |
ORPHA:416 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Athet... |
OMIM:614438 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Peripheral axonal neuropathy, Brittle hair, Sparse eyebrow, Dysplastic corpus callosum, Hydrocele... |
OMIM:618810 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Overfriendliness, Incoordination, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:616579 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618205 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Short neck, Kyphosis, Hepatosplenomegaly, Failure to thrive, Global brain atr... |
OMIM:608776 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Cryptorchidism, Reduced alpha/beta synthe... |
OMIM:301040 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Flexion contracture of finger, Small for gestational age, ... |
ORPHA:464311 |
Joubert Syndrome 6 |
|
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Cerebral atrophy, Hypoc... |
OMIM:616084 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Thrombocytopenia, Sple... |
ORPHA:2072 |
Legius Syndrome |
|
Hyperactivity, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Pol... |
ORPHA:137605 |
Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Abnormal foot morphology, Splenomeg... |
ORPHA:2136 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Growth delay, Macroglossia, Scoliosis, Agenesis of corpus callosum |
ORPHA:261144 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Tetraplegia, Dysphagia, Fasciculations, Progressive spasticity, Dystonia, Cataplexy, Spas... |
ORPHA:496641 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Low anterior hairline, Ataxia, Short stature, Hyperlordosis, Scoliosis, Sparse latera... |
OMIM:619950 |
Noonan Syndrome 7 |
|
Curly hair, Short stature, Short neck, Large for gestational age, Low posterior hairline, Growth ... |
OMIM:613706 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Tremor, Upper limb spasticity, Myoclonus, Agitation, Dysphagia, Sp... |
OMIM:619229 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Kyphosis, Cerebral atrophy, Scoliosis, Sparse hair, Spasticity, Agenesis of corp... |
OMIM:616449 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Speech apraxia, Sacral dimple, Fair hair, Small for gestational age, Slender... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Speech apraxia, Sacral dimple, Fair hair, Small for gestational age, Slender... |
ORPHA:363958 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms |
OMIM:618067 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Genitopatellar Syndrome |
|
Hip contracture, Sparse scalp hair, Short stature, Cryptorchidism, Knee flexion contracture, Fine... |
ORPHA:85201 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Highly arched eyebrow, Large for gestational age, Cerebral atrophy, Gait ataxia,... |
OMIM:280000 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Lymphopenia, Hypocalcemia, Micrognathia |
ORPHA:2306 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Rift Valley Fever |
|
Back pain, Retinitis, Paralysis, Thrombocytopenia, Paraparesis, Retinal hemorrhage, Macular edema... |
ORPHA:319251 |
Trichodental Dysplasia |
|
Brittle hair, Odontodysplasia, Slow-growing hair, Fine hair, Sparse hair |
OMIM:601453 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Hypertonia, Myoclonic spasms, Dysphag... |
ORPHA:447997 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Brittle hair, Kyphoscoliosis, Scoliosis, Biconcave vertebral bodies, Failure to ... |
OMIM:236200 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Dry hair, Short stature, Diastasis recti, Postnatal growth reta... |
ORPHA:576 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Cryptorchidism, Fine hair, Intrauterine growth retardation, Agenesis of corpus callosum |
ORPHA:228390 |
Mucopolysaccharidosis, Type Iva |
|
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid pr... |
OMIM:253000 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Rigidity, Kyphosis, Babin... |
ORPHA:97349 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive |
ORPHA:50812 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Short stature, Congenital diaphragmatic hernia, Kyphosis, Cryptorc... |
OMIM:617602 |
Cowden Syndrome 5 |
|
Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Scoliosis, Subcutaneous lipoma, Intent... |
OMIM:615108 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Growth delay, Sparse or absent eyelash... |
ORPHA:217346 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st... |
ORPHA:444072 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Disproportionate short-trunk short st... |
ORPHA:583 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short stature, Short neck, Kyphosis, Obesity, Scoliosis |
ORPHA:3191 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit... |
OMIM:164900 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Dysphagia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma... |
ORPHA:1572 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Kyphosis, Absence of subcutan... |
OMIM:616914 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Alopecia, Short stature, Kyphosis, Truncal obesity, Pigmentary retinopat... |
OMIM:203800 |
3M Syndrome |
|
Scapular winging, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, In... |
ORPHA:2616 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Self-mu... |
OMIM:214800 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Babinski sign, Hypertonia, Sparse hair, Intrauterine growt... |
OMIM:309400 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, M... |
OMIM:620005 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Fusariosis |
|
Brain abscess, Osteomyelitis, Lung abscess, Abnormality of the spleen, Peritonitis, Arthritis, Ab... |
ORPHA:228119 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Absent fingernail, Chorioretinal colo... |
OMIM:305600 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Abnormal repetitive mannerisms, Hyperactivity, Obsessive-compulsive trait, Pica |
OMIM:617796 |
Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the... |
OMIM:253010 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the ver... |
ORPHA:3098 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Curly hair, Diastasis recti, Large for gestational age |
ORPHA:457485 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Multiple joint contractures, Small for gestational age, Short stature, Kyphosi... |
ORPHA:464306 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Hypopigmentation of hair, Failure to thrive in infancy, Short stature, Imp... |
OMIM:176270 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Astrocytoma, Ataxia, Short stature, ... |
ORPHA:636 |
Noonan Syndrome 4 |
|
Curly hair, Short stature, Short neck, Large for gestational age, Cryptorchidism, Sparse eyebrow,... |
OMIM:610733 |
Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:613174 |
Myhre Syndrome |
|
Vertebral fusion, Small for gestational age, Ataxia, Short stature, Short neck, Cryptorchidism, P... |
OMIM:139210 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Ab... |
ORPHA:93360 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Palmoplantar hyperkera... |
OMIM:605676 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:617751 |
Hyperekplexia 3 |
|
Hypertonia, Exaggerated startle response, Syncope, Myoclonus |
OMIM:614618 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia |
OMIM:618272 |
Cowden Syndrome 6 |
|
Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Scoliosis, Subcutaneous lipoma, Intent... |
OMIM:615109 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Fetal Hydantoin Syndrome |
|
Short stature, Cryptorchidism, Low posterior hairline, Coarse hair, Hernia, Intrauterine growth r... |
ORPHA:1912 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Inguinal hernia, Sparse eyebrow, Kyphosis, Cerebral atrophy, Lateral ventricle... |
ORPHA:464738 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphys... |
ORPHA:3121 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Cowden Syndrome 1 |
|
Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Scoliosis, Lymphopenia, Subcutaneous l... |
OMIM:158350 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Short stature, Abnormal fingernail morphology, Short neck, Hypoplastic 5th lumba... |
ORPHA:955 |
Bruck Syndrome |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:2771 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Patent ductus arteriosus, Platyspondyly, Dispropo... |
ORPHA:2655 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion... |
OMIM:164745 |
Leopard Syndrome 3 |
|
Curly hair, Short stature, Short neck, Low posterior hairline, Growth delay |
OMIM:613707 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Aplasia/Hypoplasia of the sternum, Tricuspid sten... |
ORPHA:1686 |
Revesz Syndrome |
|
Aplastic anemia, Ataxia, Nail pits, Fine hair, Exudative retinopathy, Hypertonia, Nail dystrophy,... |
OMIM:268130 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Babinski sign, Hypertonia, Inappropriate laughter, Spasticity, Abnormal repetitive mannerisms |
OMIM:615802 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Gait ataxia, ... |
OMIM:135900 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Dry hair, Ataxia, Slow-growing hair, Paraparesis, Spasticity, Fine hair, Join... |
OMIM:164200 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness |
OMIM:619293 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the verteb... |
ORPHA:2789 |
Fountain Syndrome |
|
Short stature, Spina bifida, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosi... |
ORPHA:3219 |
Cystinosis |
|
Abnormal repetitive mannerisms, Polydipsia, Abnormal pyramidal sign |
ORPHA:213 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Kyphosis, Abnormality of the... |
ORPHA:1606 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Limb hypertonia |
OMIM:620327 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Spastic tetraplegia, ... |
OMIM:617281 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Abnormal dental enamel morphology, Kyphosis, Moderate postnatal g... |
ORPHA:1005 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Generalized dystonia, Short stature, Kyphosis, Macroglossia, Scoliosis |
ORPHA:79107 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Multiple joint contractures, Short stature, Thoracolumbar scoliosis, Congenital ... |
OMIM:265000 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Short stature, Abnormal dental enamel morphology, Periodic paralysis |
ORPHA:757 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Dentinogenesis imp... |
OMIM:259440 |
Desbuquois Dysplasia 1 |
|
Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity, Growth delay, Platyspondyly, ... |
OMIM:251450 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:1858 |
Polymyositis |
|
Abnormal muscle fiber morphology, Chondrocalcinosis, Weight loss |
ORPHA:732 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperconvex fingernails, Subcortical cerebral atrophy, Sparse hair, Abnormal vertebral morphology... |
ORPHA:2273 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Cranioectodermal Dysplasia 1 |
|
Hepatic fibrosis, Hypocalcemia, Joint laxity, Hepatomegaly, Rhizomelia, Sagittal craniosynostosis... |
OMIM:218330 |
Intellectual Disability, Buenos-Aires Type |
|
Short stature, Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Umbilical hern... |
ORPHA:3079 |
Acrofacial Dysostosis, Catania Type |
|
Inguinal hernia, Short stature, Abnormal hair pattern, Cryptorchidism, Coarse hair, Intrauterine ... |
ORPHA:1786 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture |
OMIM:603387 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia, Tongue fasciculations |
OMIM:608800 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... |
OMIM:619103 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Paralysis, Abnormal hair morphology, Growth delay, Small nail |
OMIM:242100 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Kyphosis, Umbilical hernia, Scoliosis |
ORPHA:2181 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, Poor fine motor coordination, Neutrop... |
ORPHA:51636 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Spastic tetraplegia, Spastic diplegia, Dystonia, Oculomotor apraxia,... |
ORPHA:300570 |
Galloway-Mowat Syndrome 9 |
|
Cerebellar atrophy, Hiatus hernia, Choreoathetosis, Coarse hair, Cerebral cortical atrophy |
OMIM:619603 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Clumsiness, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repe... |
OMIM:615656 |
Rapp-Hodgkin Syndrome |
|
Short stature, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine ha... |
OMIM:129400 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonus, Synophrys, Abnormal curvature of the vertebral column, Hypertonia, Chorioretin... |
OMIM:619475 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Alopecia, Involuntary ... |
ORPHA:3385 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal form o... |
ORPHA:2461 |
Leopard Syndrome 2 |
|
Curly hair, Short stature, Short neck |
OMIM:611554 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Short stature, Spastic diplegia, Growth delay, Macroglossia, Nail dystrop... |
ORPHA:93947 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Supraventricular arrhythmia, Tremor, Congestive heart failure, Osteoporosis, Hyperten... |
ORPHA:91347 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Limb dystonia, Spasticity, Abnormal repetitive mannerisms, Limb hypertonia |
ORPHA:457351 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Cryptorchidism, Posterior wedging of vertebral bodies, Optic atrophy... |
OMIM:607812 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hip dislocation, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Mucolipidosis Iii Gamma |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
OMIM:252605 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Inguinal hernia, Dry hair, Short stature, Sparse scalp hair, Sparse medial eyebro... |
OMIM:601358 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Dysplastic corpus callosum, Low anterior hairline, Intrinsic hand muscle atrophy, Spast... |
OMIM:618569 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cardiomegaly, Abnormal heart valve physiology, Hypoplasia of t... |
ORPHA:3384 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Nmda Receptor Encephalitis |
|
Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, Chorea, Opisthotonus, Choreoa... |
ORPHA:217253 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Small hypothenar eminence, Lumbar hyperlordosis, Sparse facial hair,... |
ORPHA:2232 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:617802 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Fine ha... |
ORPHA:1812 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Coarse hair, Nail dystrophy, Intrauterine growth retardation |
ORPHA:75389 |
Cushing Disease |
|
Diabetes mellitus, Impaired glucose tolerance, Myocardial infarction, Fatiguable weakness of prox... |
ORPHA:96253 |
Dubowitz Syndrome |
|
Sparse scalp hair, Sacral dimple, Short stature, Abnormal fingernail morphology, Abnormality of n... |
ORPHA:235 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lower limb spasticity, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Cryptorchi... |
ORPHA:251028 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormal optic chiasm morphology, Retinal detachment, Sacral dimple, Small for gestational age, A... |
ORPHA:268261 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Sparse scalp hair, Kyphosis, Hemiplegia/... |
ORPHA:394 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal g... |
ORPHA:221098 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... |
ORPHA:542306 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Spina bifida occulta |
ORPHA:2983 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms |
ORPHA:500159 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Prolonged QT interval, Tachycardia, Micrognathia, Short metatarsal, Short 4th meta... |
ORPHA:1772 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Failure to t... |
ORPHA:500055 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Scoliosis, Intrauterine growth retarda... |
ORPHA:2075 |
Menkes Disease |
|
Inguinal hernia, Hypopigmentation of hair, Woolly hair, Chorea, Aplasia/Hypoplasia of the abdomin... |
ORPHA:565 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Pancytopenia, Autoimmune hemolytic anemia, Short stature, ... |
ORPHA:1855 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Sudden cardiac death |
ORPHA:764 |
Glioblastoma |
|
Glioblastoma multiforme, Paralysis |
ORPHA:360 |
Multiple Endocrine Neoplasia, Type Iib |
|
Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochrom... |
OMIM:162300 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Dysplastic corpus callosum, Kyphosis, Cryptorchid... |
OMIM:300967 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Kyphosis, Platyspondyly, Short stature |
ORPHA:93274 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia |
ORPHA:438216 |
Noonan Syndrome 2 |
|
Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:605275 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb... |
OMIM:219090 |
3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Flexion contracture, Genu valgum, Azotemia, Hepatic steatosis |
OMIM:619321 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Abnormal dental enamel morphology, Congenital di... |
ORPHA:818 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the odontoid proces... |
OMIM:223800 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Hypertonia, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical h... |
OMIM:212066 |
Harrod Syndrome |
|
Kyphosis, Cryptorchidism, Scoliosis, Intrauterine growth retardation, Failure to thrive, Cerebral... |
ORPHA:2115 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral c... |
ORPHA:77301 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Disproportiona... |
OMIM:177170 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Supernumerary nipple, Short neck, Kyphosis, Cryptorchidism, Elbow flexion contra... |
OMIM:619194 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Highly arched eyebrow, Supernumerary nipple, Kyphosis, Cryptorchidism, S... |
OMIM:619951 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia, Failure t... |
OMIM:256500 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Tachycardia, Hepatopulmonary fusion, 2-3 toe syndactyly, Tracheomalacia, Enlarg... |
OMIM:618280 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... |
OMIM:313400 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short neck, Partial agenesis of the corpus callosum, Flexion contracture, Knee flexion contractur... |
OMIM:210710 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment |
OMIM:609242 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Marfan Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Inguinal hernia, Cachexia, Kyphosis, Dural ectasia, ... |
ORPHA:558 |
Fontaine Progeroid Syndrome |
|
Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, Coarse hair, Shor... |
OMIM:612289 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:819 |
Poland Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Retinal hamartoma, Kyphosis, Cryptorchidism, Aplasia... |
ORPHA:2911 |
Stickler Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Ca... |
ORPHA:828 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis |
OMIM:112350 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Distal Deletion 12Q |
|
Failure to thrive in infancy, Unilateral cryptorchidism, Kyphoscoliosis, Impaired pain sensation,... |
ORPHA:96149 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Disproportionate short stature, Fine hair, Truncal obesity, Aplasia/Hyp... |
ORPHA:2637 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling |
OMIM:618250 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Postnatal growth retardation, Scoliosis, Intrauterine growth retardation, Enamel hy... |
OMIM:619184 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Short stature, Eosinophilia, Onycholysis, Nail dystrophy |
OMIM:270300 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Decreased muscle mass, Sacral dimple, Small for gestational a... |
OMIM:194190 |
Brachyolmia Type 3 |
|
Short neck, Spinal cord compression, Kyphosis, Childhood-onset short-trunk short stature, Platysp... |
OMIM:113500 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Pheochromocytoma, Abnormal central motor function, Short stature, Glom... |
ORPHA:97685 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis, Flexion contracture of digit |
OMIM:619208 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Abnormal temper tantrums, Aggressive behavior |
ORPHA:457279 |
Cono-Spondylar Dysplasia |
|
Short nail, Short neck, Kyphosis, Partial agenesis of the corpus callosum, Poor coordination, Sco... |
ORPHA:420794 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Monosomy 22Q13.3 |
|
Sacral dimple, Impaired pain sensation, Hypoplastic toenails, Hair-pulling, Obesity, Long eyelash... |
ORPHA:48652 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal hair morphology, Fin... |
ORPHA:634 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repetitive mannerisms... |
OMIM:616364 |
Noonan Syndrome 9 |
|
Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism |
OMIM:616559 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Retinal hemorrhage, Angioid streaks of the fundus, Macular degeneration, Scoliosis |
OMIM:177850 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis... |
ORPHA:15 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ... |
ORPHA:29072 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Short stature, Small for gestational age, Thin... |
OMIM:617799 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Osteomyelitis, Abscess, Impulsivity, Self-mutilation, Dysphagia, Pain... |
ORPHA:642 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Inguinal hernia, Short stature, Chorioretinal dysplasia, Abnormal dental ename... |
ORPHA:534 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Developmental And Epileptic Encephalopathy 2 |
|
Abnormal repetitive mannerisms, Myoclonus |
OMIM:300672 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Chorea, Vasculitis, Biliary cirr... |
ORPHA:289390 |
Noonan Syndrome 10 |
|
Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:616564 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Patent ductus arteriosus, Low anterior hairline, Coarse hair, Umbilical hernia, Ge... |
ORPHA:2095 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Patent ductus arteriosus, L... |
ORPHA:79329 |
Mucopolysaccharidosis Type 4 |
|
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish en... |
ORPHA:582 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Severe B lymphocytopenia, Inguinal hernia, Postnatal growth retardation... |
ORPHA:83617 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Fine hair |
ORPHA:3236 |
Kleefstra Syndrome 1 |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction, Micrognathia |
ORPHA:1964 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
White-Sutton Syndrome |
|
Hyperactivity, Incoordination, Aggressive behavior, Self-injurious behavior, Compulsive behaviors... |
ORPHA:468678 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Coarse hair, Sc... |
OMIM:118650 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Lumbar hyperlordosis, Failure to thrive in infancy, Optic nerve hypoplasia, Kyphoscol... |
ORPHA:500150 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Short stature, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebr... |
OMIM:618223 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Kinsship Syndrome |
|
Osteopenia, Pes planus, Spastic tetraparesis, Micrognathia, Coxa valga, Hip dislocation, Bruxism,... |
OMIM:619297 |
Atelis Syndrome 2 |
|
Sacral dimple, Remnants of the hyaloid vascular system, Kyphosis, Thrombocytopenia, Patent ductus... |
OMIM:620185 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Short stature |
OMIM:616390 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Scoliosis |
ORPHA:404440 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Thoracic hyp... |
OMIM:619503 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Short stature, Thin nail, Rhabdomyosarcoma, Short neck, Concave nail,... |
OMIM:218040 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Short stature, Involuntary movements, Kyphoscoliosis, Sparse eyebrow, Cryp... |
ORPHA:3063 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Kyphosis, Skeletal muscle atrophy |
OMIM:219080 |
Phelan-Mcdermid Syndrome |
|
Tongue thrusting, Abnormal repetitive mannerisms, Aggressive behavior, Bruxism |
OMIM:606232 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Decreased muscle mass, Thymus hyperplasia, Macroorchidism, A... |
ORPHA:744 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona... |
OMIM:259420 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... |
ORPHA:1028 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Inguinal hernia, Sparse scalp hair, Short stature, Short neck, Large for gestational ... |
OMIM:607721 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Ataxia, Abnormal d... |
ORPHA:666 |
2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1001 |
Cole-Carpenter Syndrome 2 |
|
Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Dentinogenesis imperfecta |
OMIM:616294 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
Ramon Syndrome |
|
Optic disc pallor, Short stature, Kyphosis, Pigmentary retinopathy, Scoliosis, Decreased body wei... |
OMIM:266270 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Hypoglycemia, Micrognathia, Tremor, Microvesicular hepatic steatosis, Increased hepatocel... |
OMIM:220111 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Cardiomegaly,... |
OMIM:620066 |
Bainbridge-Ropers Syndrome |
|
Recurrent hand flapping, Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms |
OMIM:615485 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Short stature, Short neck, Kyphosis, Cryptorchidism, Patent ductus ar... |
OMIM:616894 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Inguinal hernia, Aganglionic megacolon, Failure to thrive in infancy, Ky... |
ORPHA:798 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Short stature, Highly arched eyebrow, Short neck, Postnatal gro... |
OMIM:613563 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Sparse eyebrow... |
ORPHA:457359 |
Diamond-Blackfan Anemia 21 |
|
Short stature, Erythroid hypoplasia, Synophrys, Widow's peak, Obesity, Anemia, Coarse hair, Horiz... |
OMIM:620072 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Sco... |
OMIM:618050 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Short stature, Abnormal fingernail morphology, Highly arched eyebrow, Thick hair, Hyp... |
ORPHA:444077 |
Trisomy 9P |
|
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop... |
ORPHA:236 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Inguinal hernia, Short stature, Scoliosis |
ORPHA:261190 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and... |
OMIM:261900 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Ataxia, Abnormal dental enamel morphology, Tremor, Coarse hair, Dystonia,... |
ORPHA:2750 |
Smith-Mccort Dysplasia 1 |
|
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Short stature, Cerebral atrophy, Hypothalamic hamartoma, Sparse hair, Enamel ... |
OMIM:311200 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Thoracic scoliosis, Sacral dimple, Widened atrophic scar, Inguinal hernia, Kyphos... |
ORPHA:536532 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Short stature, Sparse eyelashes, Fine hair, Sparse hair, Failure to thrive |
OMIM:257850 |
Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Choreoathetosis, Myoclonus, Dysphagia, Abnormal repetitive mannerisms |
OMIM:619777 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse h... |
OMIM:613451 |
Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Incoordination, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
Noonan Syndrome |
|
Abnormal hair quantity, Short stature, Abnormality of the spleen, Cryptorchidism, Aplasia/Hypopla... |
ORPHA:648 |
Scalp-Ear-Nipple Syndrome |
|
Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Lateral vent... |
OMIM:181270 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Impaired glucose tolerance, Myocardial infarction, ... |
ORPHA:99889 |
Aspartylglucosaminuria |
|
Macroorchidism, Short stature, Kyphosis, Vacuolated lymphocytes, Cerebral atrophy, Spasticity, Ma... |
OMIM:208400 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platyspondyly, Lethal s... |
ORPHA:1860 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contractur... |
ORPHA:3042 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Tapered finger, Hypertonia, Dysphagia, ... |
OMIM:618367 |
Tay-Sachs Disease |
|
Exaggerated startle response, Hypertonia |
OMIM:272800 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... |
OMIM:259050 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Inguinal hernia, Small for gestational age, Unilateral cryptorchid... |
OMIM:613406 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Kleefstra Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior |
ORPHA:261494 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Highly arched eyebrow, Impaired pain sensation, Kyphosis, Cry... |
OMIM:619005 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ... |
OMIM:619575 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate... |
OMIM:616482 |
Renpenning Syndrome 1 |
|
Brittle hair, Short stature, Cerebral atrophy, Scoliosis, Camptodactyly, Sparse hair, Spasticity,... |
OMIM:309500 |
Copper Deficiency, Familial Benign |
|
Curly hair, Failure to thrive, Early balding, Anemia |
OMIM:121270 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Posterior wedging of vertebral bodies, Coarse hair, Scoliosis, Spars... |
ORPHA:50814 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Inguinal hernia, Alopecia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorc... |
ORPHA:1507 |
Chime Syndrome |
|
Fine hair, Acute leukemia, Retinal coloboma, Sparse hair, Cerebral cortical atrophy |
ORPHA:3474 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Osteopathia striata, Cr... |
OMIM:300373 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Aggressive behavior, Polyphagia, Dysmetria, Self-injurious behavior... |
ORPHA:96121 |
Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Kyphoscoliosis, Kyphosis, Retinal calcification, Exudative retinopathy, Platyspond... |
OMIM:259770 |
Cerebellofaciodental Syndrome |
|
Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Fine hair, Scoliosis |
OMIM:616202 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Growth delay, Scoliosis |
OMIM:619557 |
Mend Syndrome |
|
Sacral dimple, Short stature, Abnormal auditory evoked potentials, Kyphosis, Cryptorchidism, Fail... |
ORPHA:401973 |
Branchiooculofacial Syndrome |
|
Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Postnata... |
OMIM:113620 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Sacral dimple, Scapular winging, Remnants of the hyaloid vascular system... |
OMIM:619539 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
Cole-Carpenter Syndrome |
|
Short stature, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the vertebral bodies... |
ORPHA:2050 |
Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Cowden Syndrome |
|
Ataxia, Short stature, Kyphosis, Macroglossia, Scoliosis, Lipoma, Failure to thrive |
ORPHA:201 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Spasticit... |
OMIM:301030 |
Mend Syndrome |
|
Sacral dimple, Short stature, Kyphosis, Cryptorchidism, Hypertonia, Macular hypoplasia, Failure t... |
OMIM:300960 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Kyphosis, Cryptorchidism, Camptodactyly, Aplasia/Hypoplasia of the nails |
OMIM:619123 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Kyphoscoliosis, Short neck, Rhizome... |
OMIM:143095 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Short stature, Fine hair |
ORPHA:1806 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Hiatus hernia, Kyphosis, Growth delay, Platyspondyly, Coarse hair, Pili ... |
OMIM:304150 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Sparse eyebrow, Gait atax... |
OMIM:617011 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal pyramidal sign, Self-injurious behavior, Hypertonia, Hyperkinetic movements, Spasticity,... |
ORPHA:468631 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Scoliosis,... |
ORPHA:3353 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, Abnormal repetitive ma... |
OMIM:617330 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Optic nerve hypoplasia, Short neck, Hair-pulling, Dystonia, Umbilical hernia |
OMIM:620330 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... |
OMIM:158310 |
Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... |
OMIM:271700 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fi... |
ORPHA:920 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Holt-Oram Syndrome |
|
Kyphosis, Patent ductus arteriosus, Scoliosis |
ORPHA:392 |
Wrinkly Skin Syndrome |
|
Scapular winging, Inguinal hernia, Short stature, Short nail, Hypoplasia of the musculature, Kyph... |
OMIM:278250 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor gross motor coordination, Hand tremor, Dysmetria... |
OMIM:614756 |
Eec Syndrome |
|
Short stature, Abnormal dental enamel morphology, Slow-growing hair, Sparse eyebrow, Nail pits, F... |
ORPHA:1896 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Ataxia, Failure to thrive, Trichorrhexis nodosa |
OMIM:207900 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Short stature, Paralysis, Growth delay, Failure to thrive |
ORPHA:18 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Agenesis of corpus callosum, C... |
ORPHA:1493 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ... |
OMIM:619512 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... |
OMIM:167210 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Coffin-Lowry Syndrome |
|
Inguinal hernia, Short stature, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fin... |
OMIM:303600 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge... |
OMIM:619522 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior |
ORPHA:319182 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Cryptorchidism, Spinal canal stenosi... |
ORPHA:1724 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccy... |
OMIM:249420 |
Pineoblastoma |
|
Papilledema, Retinoblastoma, Paralysis |
ORPHA:251909 |
Sotos Syndrome |
|
Astrocytoma, Tremor, Flexion contracture, Abnormal vertebral morphology, Cryptorchidism, Patent d... |
ORPHA:821 |
Melnick-Needles Syndrome |
|
Omphalocele, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Coarse hair, Frontal hirsu... |
OMIM:309350 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Abnormality of hair texture, Hyperlordosis, Synophrys, Hypoplastic sweat glands... |
ORPHA:73223 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis... |
OMIM:309000 |
Viss Syndrome |
|
Retinal detachment, Inguinal hernia, Sparse scalp hair, Short stature, Alopecia, Kyphosis, Patent... |
OMIM:619472 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short nail, Short stature, Broad nail, Fine hair, Sparse hair |
OMIM:614099 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio... |
OMIM:615873 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis |
OMIM:617821 |
Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, V... |
OMIM:610915 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Hyperconvex nail, Supernumerary nipple, Spar... |
ORPHA:1071 |
Alkaptonuria |
|
Low back pain, Vertebral fusion, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... |
OMIM:203500 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
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Inguinal hernia, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow |
OMIM:609944 |
Orofaciodigital Syndrome Iii |
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Kyphosis, Hyperconvex nail, Myoclonus |
OMIM:258850 |
Progressive Non-Infectious Anterior Vertebral Fusion |
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Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Williams-Beuren Syndrome |
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Medial flaring of the eyebrow, Inguinal hernia, Incoordination, Failure to thrive in infancy, Sho... |
OMIM:194050 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Truncal obesity, Kyphosis |
OMIM:610475 |
Lymphedema-Distichiasis Syndrome |
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Yellow nails, Kyphosis, Patent ductus arteriosus, Cellulitis, Distichiasis |
OMIM:153400 |
Idiopathic Juvenile Osteoporosis |
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Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Alopecia, Failure to thrive in infancy, Short stature, Abnormal fingernail morphology, Short neck... |
ORPHA:99413 |
Osteogenesis Imperfecta, Type Iv |
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Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Dentinogenesis imperfecta |
OMIM:166220 |
Mosaic Monosomy X |
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Alopecia, Failure to thrive in infancy, Short stature, Abnormal fingernail morphology, Short neck... |
ORPHA:99228 |
Monosomy X |
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Alopecia, Failure to thrive in infancy, Short stature, Abnormal fingernail morphology, Short neck... |
ORPHA:99226 |
Turner Syndrome |
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Alopecia, Failure to thrive in infancy, Short stature, Abnormal fingernail morphology, Short neck... |
ORPHA:881 |
Acromegaly |
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Cerebral palsy, Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal stenosis, Macro... |
ORPHA:963 |
Alström Syndrome |
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Thoracic scoliosis, Hypoplasia of the Leydig cells, Ataxia, Short stature, Drusen, Testicular fib... |
ORPHA:64 |
Somatomammotropinoma |
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Cerebral palsy, Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal stenosis, Macro... |
ORPHA:314769 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
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Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms, Gait ... |
ORPHA:513456 |
Mucopolysaccharidosis Type 2 |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... |
ORPHA:580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:301066 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair |
ORPHA:1974 |
Cdags Syndrome |
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Sparse eyebrow, Kyphosis, Sparse eyelashes, Sparse scalp hair |
OMIM:603116 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hyperactivity, Poor coordination, Abnormal repetitive mannerisms, Spastic diplegia |
OMIM:309590 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Curly hair, Sacral dimple, Short stature, Thoracolumbar scoliosis, Patent ductus arteriosus, Hypo... |
ORPHA:480880 |
Trichotillomania |
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Hair-pulling, Alopecia |
OMIM:613229 |
Arboleda-Tham Syndrome |
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Lower limb hypertonia, Abnormal repetitive mannerisms, Dysphagia, Dystonia |
OMIM:616268 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Cardiomegaly, Low-... |
ORPHA:99125 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Truncal obesity, Kyphosis |
OMIM:610489 |
Woodhouse-Sakati Syndrome |
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Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spa... |
OMIM:241080 |
Shprintzen Omphalocele Syndrome |
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Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis |
OMIM:300942 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Abnormal repetitive mannerisms |
OMIM:618653 |
Vascular Ehlers-Danlos Syndrome |
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Inguinal hernia, Alopecia, Short stature, Abnormality of hair texture, Abnormal eyelash morpholog... |
ORPHA:286 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Absent eyebrow, Thin fingernail, Abnormal dental enamel morphology, Absent eyelashes, Kyphosis |
ORPHA:85199 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:508498 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Hypertonia, Abnormal repetitive mannerisms, Spastic tetraparesis |
OMIM:301044 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
OMIM:309801 |
Familial Osteodysplasia, Anderson Type |
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Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Cerebrocostomandibular Syndrome |
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Kyphosis, Short stature, Spina bifida, Intrauterine growth retardation |
ORPHA:1393 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Tremor, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
Spondyloarthropathy, Susceptibility To, 1 |
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Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis |
OMIM:106300 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Absent nipple, Small for gestational age, Failure to thrive in infancy, Anteri... |
OMIM:216340 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism |
OMIM:619718 |
Norrie Disease |
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Clonus, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder, Abnormal r... |
ORPHA:649 |
Chand Syndrome |
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Curly hair, Ataxia, Nail dysplasia |
ORPHA:1401 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Abnormal repetitive mannerisms |
OMIM:616682 |
Coffin-Siris Syndrome 12 |
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Abnormal repetitive mannerisms |
OMIM:619325 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bruxism, Poor fine motor coordination, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Ataxia, Bruxism, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bruxism, Poor fine motor coordination, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
ORPHA:261552 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ... |
OMIM:300106 |