Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber... |
OMIM:616515 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Vertigo, Babinski sig... |
OMIM:160120 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Choreoathetosis, Hypertonia, Atrophy/Degeneration involving the caudate nucleus, Los... |
ORPHA:225154 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction velocity, Atax... |
OMIM:607250 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
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 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... |
ORPHA:167 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent... |
OMIM:204200 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... |
OMIM:256731 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,... |
OMIM:208920 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase, Hearing impairment, Distal sensory impairment |
OMIM:614369 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Ataxia, Increase... |
OMIM:603553 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... |
ORPHA:398063 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, Inappropriate behavior,... |
OMIM:600795 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... |
OMIM:614322 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... |
OMIM:204500 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Spl... |
OMIM:619868 |
Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Rod-cone dystrophy, Jaundice, Decr... |
ORPHA:79320 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Cataract, Aggressive behavior, Tremor, Jaundice, Hypsarrhythmia, H... |
OMIM:608093 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata... |
ORPHA:282166 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Frontotempo... |
ORPHA:275864 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... |
OMIM:300438 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Brady... |
OMIM:613280 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
ORPHA:320401 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigme... |
OMIM:204000 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating alpha-fe... |
OMIM:616267 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Dystonia, Ataxia, Elevated circulating creatine kinase concentration... |
ORPHA:64753 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... |
ORPHA:48818 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, EEG abnormal... |
OMIM:610951 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Cataract, Failure to thrive in infancy, Microcytic anemia, Elevated circulating... |
OMIM:618805 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cerebellar vermis hypoplasia, Cataract, Fundus atrophy, Absent fo... |
OMIM:204100 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocytes, Optic atrophy, Ce... |
OMIM:256730 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Hypsarrhythmia, Astrocytosis, G... |
ORPHA:204 |
Sandhoff Disease, Adult Form |
|
Dystonia, Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentratio... |
ORPHA:309169 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Choreoathetosis, Loss of ambulation, Paroxysmal bursts of laughter, Ret... |
ORPHA:391428 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... |
OMIM:604290 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity, Hearing impair... |
ORPHA:217012 |
Microtriplication 11Q24.1 |
|
Attached earlobe, Keratoconus, Speech apraxia, Posteriorly rotated ears, Hyperlipidemia, Obesity,... |
ORPHA:289522 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertonia, Polycythemia, Abnormal blood inorganic cation concentration, Portal hypertension, Gai... |
ORPHA:309854 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Axonal degeneration, Hand tremor, Distal sensory impairment, Degeneration of ante... |
OMIM:604484 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal ... |
OMIM:604360 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Aplasia/Hypoplasia of the cerebellar ... |
ORPHA:65 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Optic atrophy,... |
ORPHA:33445 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Galloway-Mowat Syndrome 8 |
|
Abnormal cerebellum morphology, Hypoalbuminemia, Brain atrophy, Cerebral cortical atrophy, Hearin... |
OMIM:618349 |
Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat... |
OMIM:615048 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function,... |
OMIM:165300 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... |
OMIM:144300 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocy... |
OMIM:209950 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia... |
OMIM:620270 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Hypoalbuminemia, Decreased body weight, Abnormal repetitive mannerisms, Parox... |
OMIM:618347 |
Leishmaniasis |
|
Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomega... |
ORPHA:507 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-acetylglucosamin... |
OMIM:224120 |
Ménétrier Disease |
|
Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Immunodeficiency 43 |
|
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... |
OMIM:241600 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, De... |
OMIM:242150 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Disproportionate tall stature, Abnormal cornea morphology, Decreased c... |
OMIM:229200 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia, Anorexia |
ORPHA:99852 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Ataxia, Cerebral atrophy, Elevated circulating alkaline phosphatase concentration, EEG with focal... |
OMIM:616917 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... |
OMIM:164500 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... |
OMIM:614170 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:90362 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat... |
ORPHA:86841 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... |
ORPHA:3202 |
Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Sensorineural hearing impairment, Unsteady gait, Vertigo, Pigmentar... |
OMIM:520000 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Retinal atrophy, Gait ... |
ORPHA:412057 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,... |
ORPHA:14 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment, Failure to thrive, Retinal degeneration |
OMIM:238340 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... |
ORPHA:26793 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... |
OMIM:612126 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Decreased li... |
OMIM:614877 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated cir... |
ORPHA:158061 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Retinal degeneration,... |
ORPHA:168491 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Conjunctival icterus, Sens... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Conjunctival icterus, Sens... |
ORPHA:529799 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... |
ORPHA:276435 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro... |
ORPHA:98870 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoglycemia, Sensorineural hearing impairment, Hypoalbuminemia, Ly... |
OMIM:617575 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Sensorineural hearing impairment, Failure to thrive, Hypoproteinemia, Anemia |
ORPHA:2315 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyram... |
ORPHA:216873 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Lower limb spasticity, Underdeveloped superior crus of antihelix, Microcytic anemia, Congenital s... |
ORPHA:293967 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Poikilocy... |
OMIM:615631 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... |
OMIM:617093 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... |
ORPHA:363710 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology, Increased neuronal autofluorescent lipopigment, Retina... |
OMIM:601780 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Cataract, Slurred spee... |
ORPHA:284289 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa... |
OMIM:615157 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Corneal opacity, Babinski sign, Optic atrophy, Spastic tetraplegia, Opacifica... |
OMIM:252650 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, M... |
OMIM:615924 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Tremor, Prelingual sensorineural hearing im... |
ORPHA:52368 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Large... |
OMIM:600501 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinas... |
ORPHA:370022 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Elevated hepatic transaminase, Cerebellar vermis hy... |
OMIM:212065 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hy... |
OMIM:277900 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hypoglycemia, Chorioretinal hyperpigmentation,... |
OMIM:618329 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa... |
OMIM:619013 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Sensorineural hearing impairment, Hypoproteinemia |
OMIM:221400 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo... |
ORPHA:67044 |
Angelman Syndrome |
|
Tremor, Hypopigmentation of the skin, Iris hypopigmentation, Keratoconus, Hyperactivity, Ataxia, ... |
ORPHA:72 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Cataract, Ataxia, Macular coloboma, Macular atrophy, Abnor... |
OMIM:619260 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Ataxia, Small for gestational age, Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal d... |
ORPHA:3363 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Portal hypertension, Spastic tetraparesis, Optic... |
OMIM:619487 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, W... |
ORPHA:2070 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Opto-chiasmatic atrophy, Impaired proprioception, Dysmetria, Loss of ambulation, I... |
OMIM:615491 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Cataract, Hearing impairment |
OMIM:312910 |
Bardet-Biedl Syndrome 16 |
|
Obesity, Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration, Hearing impairment |
OMIM:615993 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, Prominent antitragus, Ataxia, Low alkaline phosphatase |
OMIM:618879 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... |
ORPHA:231226 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Splenomegaly, ... |
OMIM:615895 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, EEG with abnormally slow frequencies, Tremor, Multifocal epileptiform discharges, ... |
ORPHA:599373 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:239500 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder |
OMIM:301033 |
Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Elevated circ... |
ORPHA:529665 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:612319 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit... |
ORPHA:90117 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anem... |
OMIM:254900 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglycer... |
OMIM:246700 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Polydipsia, Cataract, Obesity, Truncal obesity, Astigmat... |
OMIM:615986 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Elevated hepatic transaminase, Neonatal insulin-dependent di... |
ORPHA:1667 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Interictal EEG abnormality, Abnormal circulating enzyme concentration or acti... |
ORPHA:79263 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Sensorineural hearing impairment, Corneal erosion, Abnorma... |
ORPHA:90354 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Dysmetria, Gait ataxia... |
OMIM:616291 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... |
OMIM:617672 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Im... |
ORPHA:329249 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria... |
OMIM:618387 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Retinal dystrophy, Ataxia, Inability to w... |
OMIM:616756 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Decreased liver function,... |
OMIM:608104 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin concentration... |
ORPHA:540 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Retinal dystrophy, Tremor, Sensorineural hearing impairment, Unsteady... |
OMIM:614867 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Alg1-Cdg |
|
Cerebellar atrophy, Hypoalbuminemia, Decreased liver function, Cerebral atrophy |
ORPHA:79327 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Abnormal circulating enzyme co... |
ORPHA:79264 |
Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypoalbuminemia |
ORPHA:54370 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... |
ORPHA:157850 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ... |
ORPHA:158048 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive meg... |
OMIM:249270 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Sensorineur... |
OMIM:610185 |
Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Elevated circulating creatine kinase concentration, Aggressive behavior, EEG with multifocal slow... |
OMIM:616809 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Abnormal retinal morphology, Elevated circulating creatine kinase con... |
ORPHA:254886 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... |
OMIM:615558 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Failure to thrive, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Tetra... |
OMIM:618278 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Babinski sign, Spastic paraplegia, Elevated circulating alkaline phosphatase concentration, Limb ... |
ORPHA:329475 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromand... |
ORPHA:521406 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic... |
ORPHA:401777 |
Cockayne Syndrome Type 3 |
|
Premature graying of hair, Microcornea, Lentiglobus, Adult onset sensorineural hearing impairment... |
ORPHA:90324 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Elevated hepatic transaminase, Hyperactivity, Ataxia, Elevate... |
OMIM:615673 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i... |
OMIM:609260 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi... |
OMIM:610127 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Atax... |
ORPHA:263501 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spa... |
OMIM:300983 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating aspartate aminot... |
OMIM:619658 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Protruding ear, Keratoglobus, Astigmatism, Hype... |
OMIM:108145 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Loss of ambulati... |
ORPHA:206443 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... |
OMIM:256600 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... |
OMIM:617879 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hypocalcemia, Low-set ears, Hepatic failure, Hypoproteinemia |
OMIM:235255 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici... |
OMIM:606159 |
Xfe Progeroid Syndrome |
|
Attenuation of retinal blood vessels, Elevated hepatic transaminase, Cachexia, Poor coordination,... |
OMIM:610965 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Increased circula... |
ORPHA:3240 |
Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Hyperpigmentation of the skin, Abnormality of the peripheral ner... |
ORPHA:542643 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus |
OMIM:616187 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration, Distal sensory impairment |
OMIM:619764 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Pigmenta... |
OMIM:614307 |
Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Cataract, Small for gestational age, Ataxia, Dystonia, Optic atrophy, Spastic... |
OMIM:251300 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevate... |
OMIM:614298 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Small for gestational age, Retinal degeneration |
OMIM:275400 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Mpi-Cdg |
|
Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalbuminemia, Decr... |
ORPHA:79319 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Cataract, Elevated circulating creatine kinase conc... |
ORPHA:52430 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Cln5 Disease |
|
Tremor, Dysmetria, EEG with focal spikes, Hyperactivity, Abnormal central motor function, Ataxia,... |
ORPHA:228360 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... |
OMIM:618144 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Obesity, Retinal degeneration |
OMIM:614845 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Cataract, Ataxia, Decreased phytanoyl-CoA hydroxylase activity, Sens... |
OMIM:266500 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly... |
ORPHA:64743 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Elevated alkaline phosphatase of bone origin, Facial palsy, Elevated circulating creatine kinase ... |
OMIM:167320 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo... |
ORPHA:101110 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Insulin-resistant diabetes mellitus, Chorea, Optic... |
ORPHA:401768 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Hyperacti... |
OMIM:234200 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperammonemia, Leukop... |
ORPHA:292 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Large for gestational age, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic... |
OMIM:245200 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Developmen... |
ORPHA:1368 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tremor, Retrobulbar optic neuritis, Hypoesthesia... |
OMIM:619737 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Iris hypopigmentation, Tr... |
ORPHA:97229 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen... |
OMIM:619405 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Cerebral atrophy,... |
OMIM:617916 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Low-set ears, Hepatic failure, Hypoproteinemia |
ORPHA:1655 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, High-frequency sensorineural hearing impairment, Abnormal circulating enzyme conce... |
ORPHA:2590 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ... |
OMIM:615889 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:618528 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Elevated circulating creatine kinase concentration, Tremor, Degeneration of anterio... |
OMIM:159950 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Elevated c... |
ORPHA:67 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... |
OMIM:213200 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... |
ORPHA:88618 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Inability to walk, Optic atrophy, Anemia, Leukopenia, Chorioretinal hypopigmentatio... |
OMIM:617303 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Portal hypertension, Hepatosplenomegaly, Abnormal neuron branching... |
ORPHA:367 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Decreased retinol-binding protein level, Absent fo... |
OMIM:615147 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Conjunctival icterus, Intrahepatic cholestasis, Optic atro... |
OMIM:606812 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Small for gestational age, Ataxia, Tremor, Defective DNA repair after ultraviolet radia... |
OMIM:278780 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... |
ORPHA:137898 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Vertigo, Increased mean corpus... |
ORPHA:90041 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Cataract, Macular atrophy, Hypoplasia of the pons, Optic a... |
OMIM:616171 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Corneal erosion, Dysphagia, Anemia, Decreased serum zinc... |
ORPHA:89842 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Temporal cortical atrophy, As... |
ORPHA:100070 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesi... |
OMIM:302800 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys... |
OMIM:612716 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypertonia, Failure to thrive, Anisocytosis |
OMIM:604273 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysphagia, Cerebral atrophy, Choreoathetosis, Bilateral ... |
OMIM:619422 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Ataxia |
ORPHA:85334 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegen... |
OMIM:615643 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Retinal telangiectasia, Gait ataxia, Neurodegeneration, Hearing impairment |
ORPHA:438134 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Elevated hepatic transaminase, Abnormal circulating enzyme conc... |
ORPHA:79324 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Slender build, Difficulty walking, Astrocytosis |
OMIM:611087 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning, Ataxia |
OMIM:618970 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal ... |
OMIM:618718 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Juvenile cataract, Abnormal cerebellar ped... |
ORPHA:909 |
Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Gait d... |
ORPHA:391417 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnorma... |
OMIM:617810 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Hypopigmentation of the skin, Hyperpigmentation of the skin, A... |
ORPHA:79277 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... |
ORPHA:251282 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Mevalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
OMIM:610377 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural hearing impairm... |
OMIM:619473 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity, Cataract |
OMIM:615995 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Absent brainstem audito... |
ORPHA:101085 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... |
OMIM:613608 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Optic atrophy, Facial diplegia, Elevated circulating alkaline phosphatase concentrat... |
OMIM:122860 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Small for gestational age, Temporal cortical atrophy, Spastic tetraplegia, Sp... |
ORPHA:621 |
Hypophosphatasia, Childhood |
|
Waddling gait, Elevated plasma pyrophosphate, Low alkaline phosphatase |
OMIM:241510 |
Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... |
OMIM:601104 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Diaminopentanuria |
|
Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615981 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigid... |
OMIM:618090 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Elevated hepatic transaminase, Retinal atrophy,... |
OMIM:617406 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Hyperpigmentation of the skin, Splenomegaly, Glucose intolerance, ... |
ORPHA:75563 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Clonus, Spastic tetraparesis, Sensorineur... |
ORPHA:423479 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Elevated circula... |
ORPHA:85443 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... |
ORPHA:324575 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Ataxia, Elevated circulating creatine kinase concentration, Tremor... |
OMIM:608799 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia, Retinal degeneration |
OMIM:257970 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, In... |
ORPHA:363400 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Impaired glucose tolerance, Splenomegaly, Obesity, Glucose intolera... |
OMIM:615630 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Steatorrhea, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive |
OMIM:602579 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Elevated hepatic transaminase, Pancytopenia, Elevated circulating creatine ki... |
OMIM:614576 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ataxia, Elevated circulating creatine kinase concentration, Hypogl... |
OMIM:616878 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Br... |
OMIM:617435 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity, He... |
ORPHA:101075 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Myoclonus, Head tremor, Aprax... |
OMIM:620158 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Clonus, Hypoglycem... |
OMIM:619055 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Pancytopenia, Diffuse cerebral atrophy, Ataxia, Elevated circulating creatine... |
OMIM:607426 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Hypoplastic opti... |
OMIM:210000 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... |
ORPHA:330050 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy,... |
ORPHA:329284 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Reduction of oligodendroglia, Ataxia, Writer's cramp, Dys... |
OMIM:312080 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... |
OMIM:617145 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Elevated circulating alkaline ph... |
OMIM:259700 |
Hemochromatosis, Type 4 |
|
Cataract, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentra... |
OMIM:606069 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... |
ORPHA:37042 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... |
ORPHA:247234 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Hypoglycemia, Severe temper tantrums, Aggre... |
OMIM:617710 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Abnormal circulating enzyme concentration or activity, Broad-based gait, Paroxysm... |
ORPHA:79244 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Loss of ambulation, Elevated circulating alkaline phosphatase concentration, Elevated circulating... |
OMIM:615424 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Clonus, Abnormal cerebellum morphology, Babinski sign, Spastic par... |
OMIM:270700 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysm... |
OMIM:618093 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Elevated circulating asp... |
OMIM:614866 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar atax... |
ORPHA:254881 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... |
OMIM:619028 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Gliosis, Lentiglobus, Hypertonia, Retin... |
ORPHA:191 |
Liver Disease, Severe Congenital |
|
Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Hyponatremia, Hyper... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Ataxia, Splenomegaly, Cerebral atrophy, Frontotemporal cerebral at... |
OMIM:613489 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali... |
OMIM:616828 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... |
ORPHA:206448 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cataract, Small for gestational age, Insulin resist... |
OMIM:214150 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Elevated circulating creatine kinase concentration, Impaired pain sensation, B... |
ORPHA:314389 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Astigmatism, Myoclonus, Retrocolli... |
OMIM:617284 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Cataract, Megaloblastic anemia, Tremor, Sensorin... |
OMIM:222300 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... |
OMIM:620211 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia... |
ORPHA:79234 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Self hugging, I... |
OMIM:182290 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Lower limb spasticity, Catara... |
ORPHA:90321 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Tremor, Chorea, Hypocalcemia, Hyponatremia, E... |
ORPHA:94093 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaund... |
OMIM:214900 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressiv... |
ORPHA:845 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Ataxia, Hearing im... |
OMIM:209900 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Acute hepatic failure, Elevated hepatic transaminase, Ataxia, Paralysis, Jaun... |
OMIM:203700 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Jaundice, Hepatic failur... |
OMIM:222470 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Spastic tetraparesis, Aggressive behavior, Inability to ... |
OMIM:300148 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Elevated hemoglobin A1c, Sensorine... |
OMIM:616192 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Tremor, Sensorineural hearing impairment, Hypertonia, Gait ... |
ORPHA:1192 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
4H Leukodystrophy |
|
Cerebellar atrophy, Cataract, Ataxia, Dystonia, Tremor, Optic atrophy, Dysmetria, Dysdiadochokine... |
ORPHA:289494 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615982 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Hypsarrhythmia |
OMIM:618856 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus |
ORPHA:3319 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, H... |
ORPHA:101078 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Distal sensory impairment, Gait ataxi... |
OMIM:616719 |
Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior |
ORPHA:2382 |
Intermediate Osteopetrosis |
|
Cranial nerve compression, Hepatosplenomegaly, Anemia, Elevated circulating alkaline phosphatase ... |
ORPHA:210110 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Abnormality of chromosome stability, Diabetes mellitu... |
ORPHA:100 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Retinal dystrophy, Ataxia, Sensorineural hearing impairment... |
ORPHA:464282 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cerebellar atrophy, Elevated hepatic transaminase, Cataract, Ataxia, Hypoglycem... |
OMIM:124000 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Shallow anterior chamber, Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Macular Degeneration, Age-Related, 3 |
|
Choroidal neovascularization, Drusen, Decreased nerve conduction velocity, Distal sensory impairm... |
OMIM:608895 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Gliosis, N... |
OMIM:616239 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Elevated circulating alanine amin... |
OMIM:613070 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular ... |
OMIM:619780 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Apraxia, Resting tremor, Ataxia, Parkinsonism, Dystonia, Tremor, Babinski sign, Spa... |
OMIM:300055 |
Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damage, Numerous pigmented freck... |
OMIM:278760 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... |
OMIM:300894 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebellar vermis... |
OMIM:615960 |
Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Distal sensory impairment, Spastic diplegia... |
ORPHA:3124 |
Werner Syndrome |
|
Hypertriglyceridemia, Cataract, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:277700 |
Primary Familial Polycythemia |
|
Vertigo, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... |
ORPHA:3095 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hyperpigmentation of the skin, Splenomegaly, Increased circulating... |
OMIM:613313 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairme... |
ORPHA:3085 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Waddling gait, Shyness, Overweight, Babinski sign, Spastic dysarthria, Diffic... |
ORPHA:280763 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, C... |
OMIM:615249 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Vertigo, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit |
OMIM:133100 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Large fleshy ears, Astigmatism, Hypertonia, Cerebellar hypopla... |
OMIM:619556 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Ataxia, Acanthocytosis, Retinopathy, Retinal degeneration |
OMIM:200100 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Agitation, Fasting hypogl... |
ORPHA:276608 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Inability to walk, Optic atrophy, Hepatosplenomegaly, Anemia... |
ORPHA:505248 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Poems Syndrome |
|
Papilledema, Diabetes mellitus, Weight loss, Paresthesia, Hyperesthesia, Thrombocytosis, Polycyth... |
ORPHA:2905 |
Chediak-Higashi Syndrome |
|
Tremor, Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Iris hy... |
OMIM:214500 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Optic atrophy, D... |
OMIM:610217 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Macrotia, ... |
OMIM:616269 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hyperpigmentation of the skin, Increased circulating ferritin conc... |
OMIM:604250 |
Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:615244 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Abnormal pyr... |
ORPHA:816 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Splenomegaly, Sensorineural hearing impairment, Babi... |
OMIM:248500 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Corneal opacity, Splenomegaly, Cerebral atrophy, Spasticity, Retinal ... |
OMIM:272200 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Prolonged neona... |
ORPHA:446 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Conjunctival telangiectasia, Dysto... |
OMIM:606002 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus, Interictal epileptiform activity |
OMIM:615400 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Inability to walk, Astrocytosis, Highly elevated creatine kinase, Pontocerebellar a... |
ORPHA:258 |
Trichothiodystrophy |
|
Abnormal pyramidal sign, Protruding ear, Gait ataxia, Microcornea, Macular degeneration, Hyperton... |
ORPHA:33364 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating c... |
ORPHA:99826 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Ataxia, Sensorineural hearing impairment, Obesity, A... |
ORPHA:2377 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Mic... |
ORPHA:232 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... |
OMIM:616881 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Retinal degeneration, ... |
ORPHA:79282 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... |
ORPHA:36234 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Hydroxyprolinemia, Sensorineural hearing impairment, Angioid streaks of the fundus,... |
OMIM:239000 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... |
OMIM:183090 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... |
OMIM:300957 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... |
ORPHA:93952 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... |
ORPHA:309246 |
Adrenoleukodystrophy |
|
Incoordination, Hearing impairment, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia,... |
OMIM:300100 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures... |
ORPHA:276580 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Chromosome Xq21 Deletion Syndrome |
|
Chorioretinal degeneration, Progressive sensorineural hearing impairment, Chorioretinal atrophy, ... |
OMIM:303110 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Anemia, ... |
ORPHA:29073 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, ... |
ORPHA:411515 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Developmental And Epileptic Encephalopathy 28 |
|
Rigidity, Optic atrophy, Cerebral atrophy, Spasticity, Retinal degeneration |
OMIM:616211 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Jau... |
OMIM:617156 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hyperpigmentation of the skin, Corneal opacity, Depigmentation/hyperpigmentation of skin, General... |
ORPHA:79396 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Impaired vibra... |
ORPHA:95433 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Abnormal circulating en... |
ORPHA:206436 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysm... |
OMIM:607694 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al... |
OMIM:245480 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Generalized hyperpigmentation, Diabetes mellitus, Increased circul... |
ORPHA:79230 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Cataract, Ataxia, Generalized dystonia, Dystonia, Aggressive behavior, Chorea, Spas... |
OMIM:618321 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Sensorineural hearing impairment, Hypertonia, Retinal degeneration, Opisthotonus |
OMIM:616896 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Splenomegaly, Intrahepatic cholestasis, Jaundice, Steatorrhea, Ele... |
OMIM:235555 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ... |
OMIM:616505 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Sensorineural hearing impairment, Ob... |
ORPHA:98907 |
Van Buchem Disease |
|
Elevated circulating alkaline phosphatase concentration, Optic atrophy from cranial nerve compres... |
OMIM:239100 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... |
ORPHA:2056 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepat... |
ORPHA:98850 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration, Increased total bilirubin |
OMIM:174050 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura... |
ORPHA:293603 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline phosphatase of ... |
OMIM:615923 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Focal EEG discharges with... |
ORPHA:3077 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... |
OMIM:617523 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, A... |
ORPHA:96 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Elevated circulating al... |
OMIM:620366 |
Osteosclerotic Metaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration, Failure to thrive |
OMIM:615198 |
Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Cerebral atrophy, Hypoalbuminemia, Low-set ears, Spasticity, Failure to thrive |
OMIM:617729 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Poor fine motor coordination, Retinal degeneration, Hypsarrhythmia |
ORPHA:542306 |
Sialidosis Type 2 |
|
Corneal opacity, Ataxia, Tremor, Splenomegaly, Abnormal macular morphology, Hearing impairment |
ORPHA:87876 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... |
OMIM:618587 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... |
ORPHA:240103 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... |
ORPHA:276556 |
Sialidosis Type 1 |
|
Cataract, Ataxia, Corneal opacity, Decreased nerve conduction velocity, Tremor, Sensorineural hea... |
ORPHA:812 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... |
ORPHA:276575 |
Mucopolysaccharidosis Type 3 |
|
Abnormal pyramidal sign, Hypertonia, Otitis media, Thickened helices, Conductive hearing impairme... |
ORPHA:581 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Small for gestational age, Hypoglycemia, Portal hype... |
OMIM:613658 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, EEG abnormality, Bradykinesia, Dystonia |
OMIM:617836 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Inability to walk, Atrophy of the spin... |
ORPHA:2822 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Increased body weight, Hand tremor, Cafe-au-lait spot, Gait disturbance, Attention d... |
ORPHA:589905 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbilirubinemia, Ery... |
OMIM:237800 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hyperton... |
OMIM:619738 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... |
OMIM:612438 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Decreased serum iron, Overweight, Repetitive compulsive behavior, Oromotor apr... |
ORPHA:391372 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatitis,... |
ORPHA:186 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Hearing abnormality, Fasting hyperinsulin... |
ORPHA:97279 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentr... |
ORPHA:2088 |
Paget Disease Of Bone 4 |
|
Elevated circulating alkaline phosphatase concentration, Hearing impairment |
OMIM:606263 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidit... |
OMIM:261640 |
Baralle-Macken Syndrome |
|
Cataract, Inability to walk, Obesity, Dystonia, Spasticity, Cafe-au-lait spot, Global brain atrophy |
OMIM:619255 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Athetosis, Interictal epileptiform activity, Glycosuria, Type I diabet... |
OMIM:618857 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood... |
ORPHA:71529 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Failure to thrive |
OMIM:201100 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Retinal dystrophy,... |
ORPHA:713 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Abnormality of... |
ORPHA:848 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemi... |
ORPHA:3008 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, EEG abnormality, Dysphagia |
ORPHA:500180 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Low alkaline phosphatase, Failure to thri... |
OMIM:241500 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Ataxia, Posteriorly rotated ears, Hypoplasia of the pons, Inability to walk, ... |
OMIM:618143 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron, Abnormality of ... |
OMIM:231100 |
Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Large for gesta... |
ORPHA:116 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, M... |
OMIM:312170 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Distal senso... |
OMIM:118300 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia |
OMIM:174900 |
Warburg-Cinotti Syndrome |
|
Retinal dystrophy, Posteriorly rotated ears, Symblepharon, Limbal stem cell deficiency, Atresia o... |
OMIM:618175 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Poor coordinat... |
OMIM:615994 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Mucolipidosis Iii Alpha/Beta |
|
Increased iduronate sulfatase level, Increased serum beta-hexosaminidase, Hyperopic astigmatism, ... |
OMIM:252600 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, EEG with gener... |
ORPHA:163681 |
Wilson Disease |
|
Acute hepatic failure, Elevated hepatic transaminase, Aggressive behavior, Splenomegaly, Hypersex... |
ORPHA:905 |
Lathosterolosis |
|
Elevated hepatic transaminase, Cataract, Increased mean platelet volume, Acanthocytosis, Intrahep... |
OMIM:607330 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Hypertonia, Myoclonus... |
OMIM:619092 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Abnormal circulating enzyme concentration or activi... |
ORPHA:572798 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Cerebellar atrophy, Elevated hepatic transaminase, Cataract, Ataxia, Elevated circ... |
OMIM:615356 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Tremor, Hyperkinetic movements, Gliosis, Gait disturbance, Upper limb spasticity, Mac... |
ORPHA:457240 |
Caroli Disease |
|
Liver abscess, Anorexia, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukoc... |
ORPHA:53035 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Hyperglycemia, Agitati... |
ORPHA:134 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Thickened superior cerebellar ped... |
OMIM:610688 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Hyperactivity, Diffuse cerebral atrophy, Posteriorly rotated ears, Aganglioni... |
OMIM:270400 |
Cerebral Visual Impairment |
|
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematur... |
ORPHA:447788 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestation... |
OMIM:616026 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Sensorineural hearing impairment, Hypoalbuminemia, Low-set ears, Conductive hearin... |
OMIM:235510 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor,... |
ORPHA:98764 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb ataxi... |
OMIM:617675 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, Abnormal eating behavior, EEG ... |
ORPHA:98794 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Optic atrophy, Spastic tetraplegia, Chiari type I malformation, Neurodegenerati... |
OMIM:618476 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal eosinophil morphology, Portal hype... |
ORPHA:171 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Choreoacanthocytosis |
|
Caudate atrophy, Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsi... |
ORPHA:2388 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, P... |
ORPHA:157846 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Keratoconus, Generalized hyperpigmentation, Failure to thrive ... |
ORPHA:3071 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Involuntary movements, Inability to walk, Large earlobe, Elevated circulating alkaline phosphatas... |
OMIM:615716 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia, Action tremor |
ORPHA:77296 |
Parkinson Disease 14, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... |
OMIM:612953 |
East Syndrome |
|
Cerebellar atrophy, Salt craving, Ataxia, Inability to walk, Sensorineural hearing impairment, Hy... |
ORPHA:199343 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Lower limb spasticity, Dystonia, Ataxia, Repetitive compulsive beh... |
ORPHA:66634 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... |
OMIM:210250 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Protruding ear, Abnormality of skin pigmentation, Hypertonia, Tics, Compulsive behaviors,... |
OMIM:619475 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Muckle-Wells Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Conjunctivitis, Progressive ... |
OMIM:191900 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... |
OMIM:618049 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Jaundice, Increased body weight, Increased total bilirubin |
ORPHA:890 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... |
OMIM:232800 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Att... |
OMIM:618342 |
Ogden Syndrome |
|
Torticollis, Maternal diabetes, Abnormal repetitive mannerisms, Jaundice, Cerebral atrophy, Protr... |
OMIM:300855 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Cataract, Tremor, Inability to walk, Optic atrophy, Ce... |
OMIM:617988 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Tremor, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hyp... |
OMIM:208900 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hy... |
ORPHA:89937 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypomagnesemia |
OMIM:618183 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Brain atrophy, Cerebral cortical hemia... |
ORPHA:306669 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circu... |
ORPHA:247691 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... |
ORPHA:101330 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... |
OMIM:222100 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:227810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... |
OMIM:236670 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Leptospirosis |
|
Papilledema, Anorexia, Jaundice, Retinal hemorrhage, Hepatitis, Chorioretinitis, Hyperproteinemia... |
ORPHA:509 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrahepatic cholest... |
OMIM:613812 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:619662 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait... |
ORPHA:466768 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Heterochromia iridis, ... |
OMIM:609136 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... |
ORPHA:502423 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... |
OMIM:617101 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Pr... |
OMIM:618892 |
Scheie Syndrome |
|
Corneal opacity, Retinal degeneration |
OMIM:607016 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... |
ORPHA:300298 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Gapo Syndrome |
|
Keratoconus, Optic atrophy, Hypopigmented skin patches, Low-set ears, Hearing impairment |
ORPHA:2067 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ... |
OMIM:619484 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Tremor, Leukopenia, Tongue fasci... |
ORPHA:297 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, ... |
OMIM:614381 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra... |
OMIM:277460 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Poor fine motor coordination, Impaired social inte... |
ORPHA:254531 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Ele... |
OMIM:601847 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Hypoalbuminemia, Low-set ears, Anemia |
ORPHA:79076 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Atte... |
ORPHA:79254 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Increased circulating guanosine c... |
OMIM:613179 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Decreas... |
ORPHA:54057 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Hypertriglyceridemia, Hypercalcemia, Obesity, Multifocal epileptiform dischar... |
ORPHA:369837 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Cataract, Retinal atrophy, Elevated circulating creatine kinase concentrati... |
OMIM:253280 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia |
OMIM:313200 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Att... |
ORPHA:369873 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:79240 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Diabetes mellitus, Small for gestational age, Increased body weight, Type II diabetes mellitus, A... |
OMIM:274300 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis, Tremor |
ORPHA:66633 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration, Amyotrophic lateral sclerosis |
OMIM:615426 |
Nephronophthisis 14 |
|
Cerebellar vermis hypoplasia, Retinal degeneration |
OMIM:614844 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Decreased methionine synthase activity... |
OMIM:277410 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Cataract, Ataxia, Dystonia, Neonatal hypoglycemia, Tremor, Cerebral atrophy, ... |
OMIM:616271 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysph... |
OMIM:233910 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment, Elevated circulating alkaline phosphatase concentration |
OMIM:174810 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Large for gestational age, Birth length greater than 97th percentile, Spas... |
OMIM:300868 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Corneal opa... |
ORPHA:333 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity... |
ORPHA:542310 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Paralysis, Respiratory paralysis, Postprandial hyperglycemia, Periodic hypo... |
ORPHA:681 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... |
OMIM:615422 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Incoordination, Patchy atrophy of the retinal pigment epithelium, Rod-cone dyst... |
ORPHA:436245 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:264580 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Abnormality of alkaline phosphatase level, Head-banging |
OMIM:619356 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating alkaline phosphatase concentration, Difficulty walking, Hypophosphatemia, Fa... |
OMIM:277440 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia,... |
OMIM:620155 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked ... |
OMIM:216400 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal circulating enzyme concentration or activity, Pancytopenia, Retinal atrophy, Elevated ci... |
ORPHA:2785 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... |
OMIM:277400 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Congenital sensorineural h... |
ORPHA:52427 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Cataract, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Babinski sign, Sp... |
OMIM:616586 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Se... |
OMIM:120330 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Small for gestational age, ... |
ORPHA:330015 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:619790 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Cataract, Tremor, Limb hypertonia, Cerebellar h... |
OMIM:620327 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Abnormal circulating enzyme concentration or activity, Pallidal degeneration, Dyst... |
ORPHA:25 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder |
OMIM:254700 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemi... |
OMIM:616278 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Hyperactivity, Aplastic anemia, Retina... |
OMIM:617052 |
Juvenile Polyposis Syndrome |
|
Brain abscess, Extrahepatic portal hypertension, Low-set ears, Failure to thrive, Hypoproteinemia... |
ORPHA:2929 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Difficulty walking, Hypoph... |
OMIM:600081 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Portal hypertension, Splenomegaly, Increased circulating ferritin concentratio... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dysphagi... |
OMIM:617664 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Diabetes mellitus, Ataxia, Babinski sign, Optic atrophy, Impaired p... |
OMIM:229300 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin... |
ORPHA:94086 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Von Hippel-Lindau Syndrome |
|
Vertigo, Sensorineural hearing impairment, Cerebellar hemangioblastoma, Retinal capillary hemangi... |
OMIM:193300 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Hyp... |
ORPHA:254892 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Blue irides, Obesity, Limb tremor, Clumsiness, EEG abnor... |
OMIM:105830 |
Bachmann-Bupp Syndrome |
|
Lower limb spasticity, Hypoglycemia, Aggressive behavior, Large for gestational age, Sensorineura... |
OMIM:619075 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia, EEG with foca... |
OMIM:617302 |
Cockayne Syndrome B |
|
Small for gestational age, Ataxia, Abnormal auditory evoked potentials, Abnormal pinna morphology... |
OMIM:133540 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Tremor, Vocal cord paralysis, Bilateral sensorineural hearin... |
ORPHA:397744 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Polyphagia, Red h... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Polyphagia, Red h... |
ORPHA:71526 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Impaired pain sensation, ... |
ORPHA:819 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Hypercalcemia, Obesity, Abnormal retinal morphology on macular OCT, Myoclonus... |
ORPHA:251004 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Tremor, Jaundice, Elevated circulating ... |
ORPHA:69665 |
Vascular Malformation, Primary Intraosseous |
|
Elevated circulating alkaline phosphatase concentration, Hypochromic anemia |
OMIM:606893 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Tremor, Paroxysmal vertigo, Cranial ... |
ORPHA:94080 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Abnormal eating behavior, Tongue thrusting, O... |
ORPHA:411511 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Eosinophilia, Abscess, Jaundice, Weight loss, Elevated circulating... |
ORPHA:400 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Corpus callosum atrophy, Abnormal cerebellum morphology, Sensorineural hearing impairment, Tremor... |
ORPHA:447753 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Elevated circulating alkaline phosphatase concentrati... |
OMIM:241530 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bra... |
OMIM:146500 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Vertigo, Macular edema, Cerebellar hem... |
ORPHA:892 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Abnormal pupil morphology, Protruding ear, Failure to thrive |
ORPHA:52 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Cataract, Tremor, Inability to walk, Sensorineur... |
ORPHA:99956 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Restless legs, Somatic sensory dysfunction, Cerebellar atrophy, Ataxia, ... |
ORPHA:94147 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Short Syndrome |
|
Rieger anomaly, Cataract, Small for gestational age, Insulin resistance, Insulin-resistant diabet... |
OMIM:269880 |
Laurence-Moon Syndrome |
|
Ataxia, Spastic paraplegia, Chorioretinal atrophy, Obesity, Pigmentary retinopathy |
OMIM:245800 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Sensorineural hearing impairment, Antecubital pterygium, Microcornea, Micr... |
OMIM:161200 |
Mend Syndrome |
|
Hyperactivity, Cataract, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-deh... |
ORPHA:401973 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Gm1 Gangliosidosis |
|
Tremor, Decreased beta-galactosidase activity, Decerebrate rigidity, Cherry red spot of the macul... |
ORPHA:354 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Sensorineural hearing impairment, Amyloid deposition in the vitreous humor, Abnor... |
OMIM:105210 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Cataract, Ataxia, Sensorineural hearing impairment, Babinski ... |
ORPHA:314404 |
Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Posteriorly rotated ears, Sensorineural hearing impairment, Athetosis, Ele... |
OMIM:239300 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
Trichohepatoneurodevelopmental Syndrome |
|
Splenomegaly, Cerebral atrophy, Steatorrhea, EEG abnormality, Elevated circulating alkaline phosp... |
OMIM:618268 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Diffuse cerebral atrophy, Portal hypertension, Aggressive behavior... |
ORPHA:84081 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Abnormal autonomic n... |
ORPHA:478029 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Nonketotic hypoglycemia, Ataxia, Anorexia, Spastic hemiparesis, Le... |
ORPHA:20 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Difficulty walking, Hypoph... |
OMIM:264700 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulating creatinine c... |
OMIM:613095 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Fasciculations, Diffi... |
ORPHA:329478 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increased mean corpusc... |
OMIM:616689 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... |
OMIM:128100 |
Dpagt1-Cdg |
|
Tremor, Hypertonia, Diffuse optic disc pallor, Ataxia, Hypsarrhythmia, Astigmatism, Rod-cone dyst... |
ORPHA:86309 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Hyperactivity, Incoordination, Posteriorly rotated ears, Aggressive behavior,... |
ORPHA:468678 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Gapo Syndrome |
|
Keratoconus, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Protruding ear, EEG abno... |
OMIM:230740 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Chiari type I malformation, Cafe-au-lait spot, Low-set ears, Macrotia, Cerebr... |
ORPHA:166035 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Choroidal neovascularization, Spastic tetraparesis, Macular degeneration, Dystonia, Cerebral cort... |
ORPHA:404451 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Ataxia, Aganglionic megacolon, Oculomotor apraxia, Cupped ear,... |
ORPHA:247262 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns... |
ORPHA:1942 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Broad-based gait, Increased body weight, Anemia |
OMIM:614450 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Jaundice, Hepatosplenomegaly, Chronic hepatitis, Elevated circulat... |
ORPHA:39812 |
Pearson Syndrome |
|
Hypocalcemia, Neutropenia, Reticulocytosis, Ataxia, Hypokalemia, Hypomagnesemia, Glycosuria, Hype... |
ORPHA:699 |
Developmental And Epileptic Encephalopathy 80 |
|
Optic disc pallor, Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe, Elevate... |
OMIM:618580 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Clonus, Thrombocytop... |
OMIM:259720 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Glios... |
ORPHA:683 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia |
OMIM:193100 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... |
OMIM:137440 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hypercalcemia, Elevated circulating alkaline phosphatase concentration, Hypophosph... |
OMIM:156400 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Rieger anomaly, Abnormal auditory evoked potentials, Abnormally... |
OMIM:109120 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Diabetes mellitus, Hypercalcemia, Large cafe-au-lait macules with irregular margin... |
ORPHA:249 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Failure to thrive, Cerebellar vermis hypoplasia, Caudate atrophy, Optic... |
OMIM:615574 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... |
ORPHA:391673 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Optic atrophy, Obesity, Hearing impairment |
OMIM:614651 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... |
ORPHA:231214 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Posteriorly rotated ears, Aggressive behavior, Hypoplasia of the pons, Protruding ear, Gait ataxi... |
OMIM:618479 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atrophy, G... |
OMIM:618877 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Hurler Syndrome |
|
Corneal opacity, Splenomegaly, Hepatosplenomegaly, Neurodegeneration, Opacification of the cornea... |
OMIM:607014 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Hypotaurinemia, Retinal pigment ep... |
OMIM:145350 |
Hyperlysinemia |
|
Abnormal circulating enzyme concentration or activity, Hyperactivity, Neck hypertonia, Poor motor... |
ORPHA:2203 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity, Overgrowth, Red hair, Polyphagia |
OMIM:620195 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Leukopenia, Lymphopenia, Neurodegeneration |
OMIM:620210 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Tetanus |
|
Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, Hypertonia, A... |
ORPHA:3299 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Small for gestational age, Portal hypertension, Conjugated hyperbi... |
ORPHA:567983 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor,... |
OMIM:619680 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Paraparesis, Elevated circulating alkaline phosphatase concentration, Bilateral co... |
OMIM:602080 |
Camurati-Engelmann Disease, Type 2 |
|
Waddling gait, Disproportionate tall stature, Elevated circulating alkaline phosphatase concentra... |
OMIM:606631 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Small for gestational age, Conjugated hyperbilirubinemia, Splenome... |
ORPHA:30391 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hyper... |
ORPHA:79139 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compuls... |
ORPHA:646 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Elevated circulating alkaline phosphatase concentration, Hypsarrhythmia |
OMIM:616025 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia |
OMIM:617885 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... |
OMIM:616364 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Vici Syndrome |
|
Lymphopenia, Hypopigmentation of hair, Cerebellar vermis hypoplasia, Cataract, Elevated circulati... |
OMIM:242840 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia,... |
ORPHA:480520 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Otosclerosis, Corneal opacity, I... |
ORPHA:580 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased p... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased p... |
ORPHA:179494 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ... |
OMIM:251100 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Diabetes mellitus, Splenomegaly, Increased circulating ferritin co... |
OMIM:235200 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolem... |
ORPHA:2479 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... |
OMIM:605479 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Conjunctival icterus... |
OMIM:194380 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Conjugated hy... |
OMIM:619534 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Conjunctival telangiectasia, Ataxia, Sensorineural hearing impairment, Unstea... |
OMIM:615919 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Axial Spondylometaphyseal Dysplasia |
|
Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy |
ORPHA:168549 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
Dend Syndrome |
|
Hyperglycemia, Thickened ears, Elevated hemoglobin A1c, Hypsarrhythmia |
ORPHA:79134 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly... |
ORPHA:822 |
Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... |
ORPHA:668 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia,... |
OMIM:168600 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia, Erythroid hyperplasia |
OMIM:300653 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Dystonia, Macrocytic anemia, Tremor, Sple... |
OMIM:615512 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Abnormal pinna morphology, Agenesis of c... |
OMIM:609069 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Ataxia, Abnormality of Krebs cycle metabolism, Rod-cone dystrophy, Chorea, Low plasma c... |
ORPHA:255210 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Dystonia, Sensorineural hearing impairment, Obesity, Choreoathetosis, Chiari type... |
ORPHA:261197 |
Fanconi Renotubular Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration, Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Retinal dystrophy, Obesity, Hyperuricemia, Attention deficit hyperactivity... |
ORPHA:261222 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Hy... |
OMIM:612164 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Jaundice, Schistocytosis, Elevated circulating creatinine concentration,... |
OMIM:274150 |
Sotos Syndrome |
|
Tall stature, Posteriorly rotated ears, Aggressive behavior, Poor coordination, Increased body we... |
OMIM:117550 |
Scorpion Envenomation |
|
Restlessness, Hemifacial spasm, Increased circulating NT-proBNP concentration, Ataxia, Elevated c... |
ORPHA:466677 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, EEG with focal spike waves, Ataxia, Posteriorly rotated ears, Overweight, ... |
OMIM:619229 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Abnormal circulating creatine concentration, Athetosis, Dys... |
ORPHA:52503 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... |
OMIM:137920 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Recurrent hypoglycemia, I... |
ORPHA:79644 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Aganglionic megacolon, Inability to walk, Sensorineural hearing impairment, Elevated circulating ... |
OMIM:614207 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Vertigo, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxi... |
OMIM:602481 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra... |
ORPHA:79102 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... |
OMIM:615453 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Leukocytosis, Addictive alcohol use, Hyperglycemia |
ORPHA:90065 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Failure to th... |
OMIM:193700 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Retinal detachment, Microcornea, Disproportionate tall stature, Tall stature |
OMIM:225400 |
Joubert Syndrome With Ocular Defect |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Retinal dystrophy, Ataxia, Agang... |
ORPHA:220493 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Pancytopenia, Ataxia, Elevated circulating C-reactive protein conc... |
OMIM:615688 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Ataxia, Portal hypertension, Tremor,... |
ORPHA:1454 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Elevated circulating aspartate aminotransferase concentration, Uplifted earlobe... |
OMIM:280000 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hyperalaninemia, Cataract, Elevated circulating creatine kinase concentration, Obesity |
OMIM:615418 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hyperactivity, Keratitis, Splenomegaly, Jaundice, Tremor, Neutrope... |
ORPHA:525731 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... |
OMIM:610042 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... |
OMIM:300424 |
Gaucher Disease |
|
Pancytopenia, Ataxia, Corneal opacity, Elevated circulating C-reactive protein concentration, Tre... |
ORPHA:355 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi... |
OMIM:168605 |
Paget Disease Of Bone 6 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616833 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Elevated circulating alkali... |
OMIM:307800 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Ataxia, Abnormal pinna morphology, C... |
ORPHA:79318 |
Oncogenic Osteomalacia |
|
Elevated circulating alkaline phosphatase concentration, Gait disturbance, Hypocalcemia, Hypophos... |
ORPHA:352540 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Posteriorly rotated ears |
OMIM:616222 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Macrotia, Astigmatism |
OMIM:208050 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Dilatate... |
ORPHA:1435 |
Kleefstra Syndrome Due To A Point Mutation |
|
Uplifted earlobe, Large for gestational age, Developmental cataract, Self-injurious behavior, Ove... |
ORPHA:261652 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Glucose intolerance, Hypertonia, Brain atrophy, G... |
OMIM:616539 |
Donohue Syndrome |
|
Hypermelanotic macule, Hyperinsulinemia, Fasting hypoglycemia, Low-set ears, Severe failure to th... |
OMIM:246200 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:616629 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Agitation, Neurodegeneration, Spa... |
ORPHA:803 |
Nephronophthisis 11 |
|
Anisocoria, Polydipsia, Anemia, Retinal degeneration |
OMIM:613550 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Obesity, Cataract |
ORPHA:363741 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Elevated alkaline phosphatase of bone origin, Increased circulating beta-C-termina... |
ORPHA:157215 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Obesity, Cataract |
OMIM:601794 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Sensorineural hearing impairment, ... |
ORPHA:79237 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Failure to thrive in infancy, Macular atrophy, Hypoglycem... |
OMIM:619418 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration |
OMIM:613312 |
Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Obesity, Pigmentary retinopathy, Hypertonia, Prolonged neonatal jaundi... |
OMIM:612291 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Optic nerve dysplasia, Spastic paraplegia, Obesity, Cerebral atrophy, Lower limb hypertonia, Tip-... |
OMIM:617296 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Keratoglobus, Macrotia |
ORPHA:3342 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, ... |
ORPHA:485 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus |
ORPHA:1573 |
Fibrodysplasia Ossificans Progressiva |
|
Conductive hearing impairment, Sensorineural hearing impairment, Elevated circulating alkaline ph... |
OMIM:135100 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Impaired pain sensation, Aggressive behavior, Hyperl... |
ORPHA:293987 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap... |
OMIM:618527 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Decreased iduronate sulfatase level, Splenomega... |
OMIM:309900 |
Gorham-Stout Disease |
|
Torticollis, Elevated alkaline phosphatase of bone origin, Chiari type I malformation, Abnormalit... |
ORPHA:73 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Abscess, Leukocytosis, Abnorm... |
ORPHA:810 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Microcytic anemia, Aplasia/Hypoplasia of the earlobes, Failure... |
ORPHA:98791 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Maternal diabetes, Hemiplegia/hemiparesis, Sensori... |
ORPHA:3157 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
Neuhauser Syndrome |
|
Osteopenia, Cupped ear, Large fleshy ears, Dysphagia, Hypercholesterolemia |
OMIM:249310 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Hyperbilirubinem... |
OMIM:235700 |
Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Increased corneal thickness, Abnormal pinna morphology, Sensorineural h... |
ORPHA:2363 |
Wild Type Attr Amyloidosis |
|
Weight loss, Elevated circulating alkaline phosphatase concentration, Abnormal autonomic nervous ... |
ORPHA:330001 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Hearing impairmen... |
ORPHA:53693 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Cerebral atrophy, Conjunctivitis, Abnorma... |
ORPHA:2968 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Chorea, ... |
ORPHA:2131 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Glycosuria, Hyperglyc... |
ORPHA:99885 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Anterior subcapsular cataract, A... |
ORPHA:67036 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Hypercholesterolemia, Bone cyst, Increased C-peptide level |
ORPHA:528 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevate... |
ORPHA:100085 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Diabetes mellitus, Sensorineural hearing imp... |
ORPHA:98908 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Dystonia, Clonus, Tremor, Sensorineural hearing impairment, Jaundice, Neutropenia, Cere... |
OMIM:617248 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Glioma, Retinal pigment ... |
OMIM:251260 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity |
OMIM:617864 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cataract, Ataxia, Small for gestational age, Tremor, Hyperammonemia, Low-set ears, Hyperalaninemi... |
OMIM:614052 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Tremor, Paroxysmal vertigo, Cranial ... |
ORPHA:276621 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Elevated amniotic fluid alpha-fetoprotein, Retinal degeneration |
ORPHA:96179 |
Paget Disease Of Bone 3 |
|
Elevated circulating alkaline phosphatase concentration, Hearing impairment |
OMIM:167250 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Elevated circulating cr... |
ORPHA:411634 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated circulating C-... |
ORPHA:676 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Tremor, Paroxysmal vertigo, Cranial ... |
ORPHA:29072 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment, Spastic paraplegia,... |
ORPHA:847 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Diabetes mellitus, Rod-cone dystrophy, Obesity |
OMIM:605231 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Rod-cone dystrophy, Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Low-set ears, Macrotia... |
OMIM:250410 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetrapl... |
ORPHA:58 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant d... |
ORPHA:79474 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Cataract, Portal hyper... |
OMIM:620005 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Obesity, Hypoglycemic seizures, Hyperbilirubinemia, Red hai... |
OMIM:609734 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Elevated circulating alkaline phosphatase concentration, Mixed hearing impairment |
OMIM:126550 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... |
OMIM:611131 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Maturity-onset diabet... |
ORPHA:1578 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increased mean corpusc... |
OMIM:185000 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Cataract, Involuntary movements, Band keratopathy, Sensorineural hearing impairment, ... |
ORPHA:79443 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Impulsivity, Impaired temperature sensati... |
ORPHA:398069 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Facial palsy, Tremor, Sensorineural h... |
OMIM:164310 |
Reynolds Syndrome |
|
Calcinosis, Elevated hepatic transaminase, Splenomegaly, Jaundice, Elevated circulating alkaline ... |
OMIM:613471 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Low alkaline phosphatase |
OMIM:619985 |
Metachromatic Leukodystrophy |
|
Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Decreased nerve co... |
ORPHA:512 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Raine Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Protruding ear, El... |
OMIM:259775 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Optic disc pallor, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, ... |
OMIM:611490 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Osteolytic defects of the dist... |
ORPHA:2457 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Subcortical cerebral atrophy, Stea... |
ORPHA:440713 |
Estrogen Resistance Syndrome |
|
Elevated tissue non-specific alkaline phosphatase, Hyperinsulinemia, Glucose intolerance, Overgro... |
ORPHA:785 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract |
OMIM:616722 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Overweight, Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617301 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Neurodegeneration, Reduced leuko... |
OMIM:253220 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Hyperactivity, Diffuse cerebral atrophy, EEG with spike-wave complexes, Tremo... |
ORPHA:1934 |
Adrenocortical Carcinoma |
|
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... |
ORPHA:1501 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, D... |
ORPHA:124 |
Serotonin Syndrome |
|
Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus, Abnormality of the auto... |
ORPHA:43116 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Failure to thrive, Increased mean corpuscular volume |
OMIM:612561 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis, Weight loss |
OMIM:613239 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Small for gestational age, T... |
OMIM:260400 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Abnormal pyramidal sign, Premature graying... |
OMIM:612199 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Mic... |
OMIM:619525 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremo... |
OMIM:610505 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Reduced alpha/beta synthesis ratio, H... |
OMIM:301040 |
Alport Syndrome |
|
Posterior subcapsular cataract, Sensorineural hearing impairment, Abnormal corneal endothelium mo... |
ORPHA:63 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Trisomy 10P |
|
Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, Poor mo... |
ORPHA:171929 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Small for gestational age, Dystonia, Hypoglycemia, Tremor, ... |
OMIM:220111 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Spotty hypopigmentation, Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Sensorineural hearing impairment, Retinal atrophy |
OMIM:617236 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Overweight, Intrahepatic cholest... |
ORPHA:69663 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Elevated circulating alkaline phosphatase conc... |
ORPHA:521219 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Elevated circulating alkaline phosphatase concentration, Aganglionic megacolon, Hearing impairment |
OMIM:614749 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Osteogenesis Imperfecta, Type Xi |
|
Elevated circulating alkaline phosphatase concentration, Hearing impairment |
OMIM:610968 |
Aicardi-Goutières Syndrome |
|
Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyramidal muscular rigidity, Hemiplegia/hemipar... |
ORPHA:51 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Cataract, Obesity, Hyperphosphatemia, Paresthesia, Hypocalcemia, Conjunctivitis, Myoc... |
ORPHA:79444 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:600785 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia |
ORPHA:75565 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypoglycemia, Vertig... |
ORPHA:91355 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
X-Linked Hypophosphatemia |
|
Sensorineural hearing impairment, Elevated circulating alkaline phosphatase concentration, Chiari... |
ORPHA:89936 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight, Hyperglycemia |
OMIM:615954 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated alkaline phosphatase of bone origin, Hypocalcemia, Difficulty walking, Hypophosphatemia,... |
ORPHA:289157 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... |
ORPHA:189427 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... |
ORPHA:562639 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa... |
ORPHA:412 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ce... |
OMIM:615530 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Primrose Syndrome |
|
Restlessness, Calcification of the auricular cartilage, Ataxia, Diabetes mellitus, Elevated circu... |
OMIM:259050 |
Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Rod-cone dystrophy, Babinski sign, Optic atrophy, Protruding e... |
ORPHA:3132 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Eiken Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Chiari malformation, Decreased body weight |
OMIM:600002 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Fair hair, Ataxia, Posteriorly rotated ears, Cataract, Retinal dystrophy, Rod-cone dystrophy, Hep... |
OMIM:266920 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Attention deficit hyperactivity disorder, Hyper... |
ORPHA:90674 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Obesity, Astigmatism, Retinal vascular tortuosity, Hy... |
OMIM:619471 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Macrotia, Hypoalbuminemia |
OMIM:614748 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertriglyceridemia, Hyper... |
ORPHA:470 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617527 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Brain abscess, Choriocapillaris atrophy, Polycythemia, Anemia |
OMIM:600376 |
Acquired Methemoglobinemia |
|
Vertigo, Methemoglobinemia |
ORPHA:464453 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Jaundice, Retinal degeneration |
OMIM:208500 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Small for gestational age, Increased mean platelet volume, Splenomegaly... |
ORPHA:84064 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Boudin-Mortier Syndrome |
|
Difficulty walking, Elevated alkaline phosphatase of bone origin, Tall stature |
OMIM:619543 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration, Astigmatism, Uplifted earlobe |
OMIM:618548 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Retinal atrophy, Inability to walk, Optic atrophy, Lower limb ... |
ORPHA:97297 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment |
ORPHA:79255 |
Hypophosphatasia, Adult |
|
Low alkaline phosphatase |
OMIM:146300 |
Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension |
OMIM:268800 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Elevated alkaline phosphatase ... |
OMIM:615363 |
Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... |
OMIM:264800 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Craniometadiaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration, Low-set ears |
OMIM:269300 |
Hyperparathyroidism, Transient Neonatal |
|
Elevated circulating alkaline phosphatase concentration, Low-set ears, Splenic cyst |
OMIM:618188 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Protruding ear, Hypokalemia, Hyperaldosteronism, Increased ... |
ORPHA:508 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy |
OMIM:616562 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Protruding ear, Compulsive... |
ORPHA:904 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Splenomegaly, Hypocalcemia, Otitis media, Hypophosphatemia, Optic nerve compression, Anem... |
ORPHA:667 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
OMIM:600803 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Decreased nerve conduction velocity, Vertigo, Keratoconjunctivitis sicca, Paresthesia |
ORPHA:285 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Papilledema, Abnormal c... |
ORPHA:3385 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Brain abscess, Polycythemia, Anemia |
OMIM:187300 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Sensorineural hearing impa... |
ORPHA:444077 |
Cushing Disease |
|
Diabetes mellitus, Impaired glucose tolerance, Paradoxical increased cortisol secretion on dexame... |
ORPHA:96253 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Increased body... |
OMIM:615830 |
Knobloch Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... |
ORPHA:1571 |
Sotos Syndrome |
|
Astrocytoma, Cerebellar vermis hypoplasia, Tremor, Conductive hearing impairment, Chronic otitis ... |
ORPHA:821 |
Alström Syndrome |
|
Elevated gamma-glutamyltransferase level, Otitis media, Severe sensorineural hearing impairment, ... |
ORPHA:64 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Low-set, posteriorly rotated ears, Hypoammonemia, Osteomalacia, Protruding ear, EEG... |
ORPHA:534 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elevated circulating alkaline phosphatase concentration, Chiari malformation |
OMIM:618162 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Joubert Syndrome 39 |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Retinal dystrophy, Overweight, Oculomotor apraxia |
OMIM:619562 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Vertigo, Aplasia/Hypoplasia of the earlobes, Abnormal pupil morphology, Melanocytic ... |
ORPHA:286 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus |
OMIM:177850 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Absent earlobe, Anemia |
OMIM:130050 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia, EEG with generalized slow activity |
OMIM:618367 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... |
OMIM:105650 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Shyness, Obesity, Self-injurious behavior, Astigma... |
ORPHA:293948 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Elevated alkaline phosphatase of bone origin, Sensorineural hearing impai... |
ORPHA:289176 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuricemia, Hyper... |
ORPHA:79259 |
Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-f... |
OMIM:309000 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Sensorineural hearing impairment, Decreased circulating copper concentration |
OMIM:300972 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge... |
OMIM:608232 |
Infantile Spasms Syndrome |
|
Hypsarrhythmia |
ORPHA:3451 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Optic disc pallor, Exaggerated startle response, Decreased serum iron, Osteoporosis, ... |
ORPHA:438213 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Intermittent jaundice, Weight loss, Elevated gamma-glutamyltransferase level, Elevated ... |
ORPHA:100086 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Failure to ... |
ORPHA:51608 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diabetes mellitus, Impaired glucose tolerance, Paradoxical increased cortisol secretion on dexame... |
ORPHA:99889 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Low-set ears, Dysphagia, Hypercholesterolemia, Tin... |
OMIM:606721 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... |
OMIM:619522 |
Steinert Myotonic Dystrophy |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Facial diplegia, Hypercholesterolemia, Obsessive-... |
ORPHA:273 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:85188 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Macrotia, Hypertriglyceridemia, Low-set ears |
OMIM:118450 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Diabetes mellitus, Hyperglycemia, Failure to thrive, Glycosuria |
OMIM:600001 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Abnormality of alkaline phosphatase level |
OMIM:300106 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy |
ORPHA:391665 |
Carney Complex |
|
Increased body weight, Abdominal obesity, Increased circulating cortisol level, Multiple lentigin... |
ORPHA:1359 |