Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Cogwheel rigidity, Developmental cataract, Hypertonia, Attention deficit hyperactivity disorder, ... |
OMIM:618284 |
Dystonia 30 |
|
Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Leg dystonia, Arm dystonia, Compul... |
OMIM:619291 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... |
ORPHA:329466 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Limb dystonia, Slen... |
OMIM:128101 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Impulsivity, Cryptorchidism, Pachygyria... |
OMIM:604317 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Axial hypotonia, Micropenis, Gray matter heterotopia, Lissencephaly, Spasticity... |
OMIM:300067 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract, Subcortical band heterotopia, Spastic tetraplegia, Pachygyria, Agyria |
OMIM:615412 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Pachyg... |
OMIM:615411 |
Lissencephaly 1 |
|
Axial hypotonia, Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lis... |
OMIM:607432 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Hypotonia, Generalized hypotonia, Periventricular nodular heterotopi... |
OMIM:608097 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short statu... |
OMIM:610717 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Axial hypotonia, Dystonia, Tremor, Agitation, Compulsive behaviors, Death in childhood, Failure t... |
OMIM:619651 |
Lissencephaly 3 |
|
Agyria, Periventricular laminar heterotopia, Hypotonia, Spastic tetraplegia, Gray matter heteroto... |
OMIM:611603 |
Dystonia 33 |
|
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity |
OMIM:619687 |
Kennedy Disease |
|
Hypotonia, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
Dystonia 25 |
|
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
Myotonic Dystrophy 1 |
|
Cataract, Hypotonia, Hypogonadism, Generalized hypotonia, Dysphagia, Cholelithiasis, Obsessive-co... |
OMIM:160900 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased testicular size, Hypogonadotropic hypogonadism, Hypergo... |
OMIM:604168 |
Peroxisome Biogenesis Disorder 8B |
|
Very long chain fatty acid accumulation, Cataract, Optic atrophy, Decreased liver function, Leuko... |
OMIM:614877 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertili... |
OMIM:615703 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Chronic neutropenia, Thrombocytopenia, Partial agenesis of the corpus callosum,... |
OMIM:619302 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Axial hypotonia, Gray matter heterotopia, Neonatal hypotonia, Spasticity, Pachygyria, Agyria |
ORPHA:1084 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Chronic neutropenia, Hypotonia, Spastic tetraplegia, Simplified gyral pattern, ... |
OMIM:619301 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Spasticity, Polymicrogyria, Agenesis ... |
ORPHA:101029 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... |
OMIM:602629 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Epiphyseal stippling, Cataract, Hepatomegaly |
OMIM:614882 |
Tangier Disease |
|
Hepatomegaly, Peripheral axonal neuropathy, Hypertriglyceridemia, Splenomegaly, Facial diplegia, ... |
OMIM:205400 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Delayed CNS myelination, Cataract, Failure to thrive in infancy, Elevated circulati... |
OMIM:618805 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Dysphagia, Craniofacial dystonia, Dystonia |
OMIM:611694 |
Dystonia 32 |
|
Torticollis, Laryngeal dystonia, Dysphagia, Limb dystonia |
OMIM:619637 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Adrenal calcification, Hepatic fibrosis, Elevated gamma-glutamyltransferas... |
OMIM:278000 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Hypertonia, Lisse... |
ORPHA:1083 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Cataract, Diabetes insipidus, Megaloblastic anemia, Trem... |
OMIM:222300 |
Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Craniofacial dystonia |
ORPHA:370103 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Diabetes mellitus, Osteoarthritis, Cardiomyopathy, Impotence, Cirrhosis, ... |
OMIM:606069 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci... |
ORPHA:79303 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Short stature, Hyperl... |
ORPHA:369 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Alstrom Syndrome |
|
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Tubulointerstiti... |
OMIM:203800 |
Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Laryngeal dystonia, Spastic paraplegia, Dystonia |
OMIM:619681 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cataract, Short stature, Cranial nerve compression, Osteolysis, Ab... |
ORPHA:52430 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Focal dystonia, Dystonia, Spasticity |
ORPHA:309169 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega... |
OMIM:300635 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... |
OMIM:607765 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Hypotonia, Dysphagia, Opisthotonus, Choreoathetosis, Self-injurious behavio... |
OMIM:300322 |
Hemidystonia-Hemiatrophy Syndrome |
|
Dystonia, Dense calvaria, Limb dystonia |
ORPHA:306741 |
Striatonigral Degeneration, Infantile |
|
Dystonia, Choreoathetosis, Dysphagia, Spasticity, Failure to thrive |
OMIM:271930 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder, Abnormality ... |
OMIM:618709 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Hepatic steatosis |
OMIM:618400 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... |
OMIM:616829 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Osteoporosis, Azoospermia, Impote... |
OMIM:235200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619048 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Craniofacial dystonia |
OMIM:619565 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Hypothyroidism, Splenomegaly, ... |
ORPHA:465508 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Flexion contracture, Left ventricular hy... |
OMIM:616733 |
1Q21.1 Microduplication Syndrome |
|
Cataract, Hypospadias, Cryptorchidism, Hypotonia, Hypertonia, Attention deficit hyperactivity dis... |
ORPHA:250994 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis, Hepatic s... |
ORPHA:264580 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... |
ORPHA:280356 |
Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss, Growth delay |
ORPHA:79238 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Tremor, Dysplastic corpus callosum, Hypotonia, Spastic tetraplegia, Dystonia, Spas... |
ORPHA:599373 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cataract, Small for gestatio... |
ORPHA:79237 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short stature, Splenomegaly, Primary ameno... |
OMIM:612526 |
Krabbe Disease |
|
Optic atrophy, Reduced galactocerebrosidase activity, CNS demyelination, Failure to thrive, Perip... |
OMIM:245200 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Onion bulb formation, Decreased phosphoribosylpyrophosphate synthetase level, Segm... |
OMIM:311070 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Compulsive behaviors, Dystonia |
ORPHA:36899 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Cataract, Optic atrophy, Joint contracture of... |
OMIM:609033 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Optic atrop... |
OMIM:264470 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cataract, Cholestasis, Decre... |
ORPHA:570422 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Hepatomegaly, Corneal opacity, Large for gestational age |
ORPHA:2432 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Decreased skull ossification, Testicular atrophy |
OMIM:601163 |
Symmetrical Thalamic Calcifications |
|
Failure to thrive, Spasticity, Hypertonia, Abnormality of neuronal migration |
ORPHA:1314 |
Spastic Ataxia 1, Autosomal Dominant |
|
Spastic paraplegia, Dysphagia, Dystonia |
OMIM:108600 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Rigidi... |
OMIM:157640 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Hypotonia, Obesity, Limb dystonia |
OMIM:620270 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Chronic mucocut... |
ORPHA:3453 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... |
OMIM:305400 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Cataract, Hand tremor, Spastic dysarthria, Agenesis of corpus callosum, Pr... |
ORPHA:401830 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Hypotonia, Attention deficit hyperactivity disorder, Periventricular nodular heteroto... |
OMIM:620065 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Bone cyst, Axonal loss, Lateral ventricle dilatation, Abnormal upper motor neuron morphology, Pat... |
OMIM:221770 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Astigmatism, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Lary... |
OMIM:617284 |
Striatonigral Degeneration, Childhood-Onset |
|
Dystonia, Hypotonia, Hypertonia, Dysphagia, Craniofacial dystonia |
OMIM:617054 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Acne, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189427 |
Maternal Hyperthermia-Induced Birth Defects |
|
Hypoplasia of penis, Joint stiffness, Abnormality of neuronal migration, Hypotonia, Hypertonia |
ORPHA:2216 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Cardiomyopathy, Intrauterine growth retardation, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Paroxysmal dystonia, Writer's cramp |
ORPHA:163727 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Skin rash, Splenomegaly |
OMIM:619175 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Primary go... |
ORPHA:436182 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Pol... |
OMIM:604213 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:618276 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Compulsive behaviors |
OMIM:159900 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... |
OMIM:118200 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... |
OMIM:619868 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
OMIM:614895 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:145900 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Symmetric peripheral demyelination, Demyelinating motor neuropa... |
ORPHA:206594 |
Autosomal Recessive Spastic Paraplegia Type 56 |
|
Spastic paraplegia, Spastic gait, Dystonia |
ORPHA:320411 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... |
OMIM:620378 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Spastic diplegia, Developmental... |
OMIM:619420 |
Adrenomyodystrophy |
|
Short stature, Primary adrenal insufficiency, Reduced bone mineral density, Megalocornea, Failure... |
ORPHA:977 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia |
OMIM:118800 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Bone cyst, ... |
ORPHA:528 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin... |
ORPHA:2410 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Tremor, Spasticity, Dystonia |
OMIM:614561 |
Ddost-Cdg |
|
Osteopenia, Elevated hepatic transaminase, Short stature, CNS hypomyelination, Primary hypothyroi... |
ORPHA:300536 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... |
OMIM:269200 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Axial hypotonia, Facial hypotonia, Tremor, Spastic paraplegia, Flex... |
OMIM:300055 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Violent behavior, Impulsivity, Tremor, Rigidity, Dysphagia, Focal dystonia, Compulsive behaviors,... |
ORPHA:216873 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Flexion contracture, Axonal loss, Clusters of axonal regeneration... |
ORPHA:101097 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Abnormality of neuronal migration, Thrombocytopenia |
ORPHA:1980 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Developmental And Epileptic Encephalopathy 7 |
|
Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:613720 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hypotonia, Epiphyseal stippling, Colpocephaly, Neonatal death, Pachygyria, Generalized neonatal h... |
OMIM:614870 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Head tremor, Limb dystonia |
OMIM:614860 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Tremor, Dystonia, Spasticity |
OMIM:615924 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Hypertrophic nerve changes, Onion bulb fo... |
OMIM:180800 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Obesity, Hypogonadism, Hypoplas... |
OMIM:615996 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Axial hypotonia, Spastic tetraplegia, Dystonia |
OMIM:251280 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Cataract, Premature ovarian insuf... |
ORPHA:79239 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Severe muscular hypotonia, Oculogyric crisis, Hypotonia, Bruxism, Self-injurious behavior, Inappr... |
OMIM:614254 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cataract, Recurrent fractures, Cryptorchidism, Abnormality of neuronal migra... |
ORPHA:2772 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Spastic tetraplegia, Generalized hypotonia, Dystonia, Neonatal death, Failur... |
OMIM:618237 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... |
OMIM:118210 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:118220 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Generalized hypotonia, Dystonia |
OMIM:616763 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Axonal loss, Peripheral demyelination, Decreased body weight |
OMIM:617672 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Cryptorchid... |
OMIM:615381 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Autosomal Agammaglobulinemia |
|
Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri... |
ORPHA:33110 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Dystonia |
OMIM:619661 |
Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Hypotonia, Hepatosplenomegaly, Generalized hypotonia, Death in childhood, Spasticity, T... |
OMIM:610329 |
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Spastic paraplegia, Dystonia |
OMIM:615030 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Failur... |
OMIM:618234 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Restlessness, Dystonia, Spastic tetraplegia, Infantile muscular hypotonia |
ORPHA:263410 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Post... |
OMIM:610198 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia, Spasticity |
OMIM:301107 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
Foxg1 Syndrome |
|
Pachygyria, Hypotonia, Bruxism, Choreoathetosis, Agenesis of corpus callosum, Dystonia, Spasticit... |
ORPHA:561854 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Acne, Osteoporosis, Increased body weight, In... |
OMIM:615830 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia |
OMIM:619966 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Ovarian cyst,... |
ORPHA:562 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Ventricular septa... |
OMIM:208085 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Generalized dystonia, Adrenal insufficiency, Dysphagia |
OMIM:619025 |
Neuromyelitis Optica Spectrum Disorder |
|
Optic neuritis, Peripheral demyelination, Myelitis |
ORPHA:71211 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Short stature, Hepatosple... |
OMIM:619013 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Sinusitis, Skin rash, Short stature, Recurr... |
ORPHA:47 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Reduced bone mineral densit... |
ORPHA:848 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Death in infancy, Hypotonia, Dystonia |
ORPHA:139406 |
Primary Dystonia, Dyt21 Type |
|
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... |
ORPHA:306734 |
Galactosemia Ii |
|
Cataract, Prolonged neonatal jaundice |
OMIM:230200 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Failure to thrive in infancy... |
OMIM:611182 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Nep... |
OMIM:613404 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Cataract, Hypotonia, Joint hyperflexibility, Hypogonadism, Abnormality... |
ORPHA:1875 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Abnormal heart morphology, Decreased liver... |
ORPHA:70472 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... |
ORPHA:209902 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci... |
ORPHA:98907 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Severe short stature, Failure to thrive, Premature ovarian insufficiency, Cataract |
ORPHA:2278 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Flexion c... |
OMIM:607706 |
16P11.2P12.2 Microduplication Syndrome |
|
Hypospadias, Attention deficit hyperactivity disorder, Dystonia |
ORPHA:261204 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Small for gestational age, Short stature, Reduced bone mineral density, Delayed ossific... |
OMIM:618392 |
Isolated Sedoheptulokinase Deficiency |
|
Short stature, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Severe postnatal... |
ORPHA:440713 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Corneal opacity, Short stature, Splenomegaly, CNS demyelination, Peripheral demyeli... |
OMIM:272200 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Dysphagia, Choreoathetosis, Hypertonia, Dystonia |
OMIM:261630 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... |
OMIM:608340 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures,... |
ORPHA:2959 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Hypotonia, Self-injurious behavior, Dystonia, Spasticity, Abnormal repetitive mannerisms |
OMIM:617820 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Flexion contracture, Optic atrophy, Perip... |
OMIM:609260 |
Band Heterotopia |
|
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Spasticity, ... |
OMIM:600348 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Spastic tetraparesis, Dystonia |
ORPHA:67046 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri... |
OMIM:614921 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Lower limb spasticity, Tremor, Spastic paraplegia, Dysphagia, Spastic dysarthria, Hypertonia, Dys... |
ORPHA:251282 |
Leukodystrophy, Hypomyelinating, 21 |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Athetosis, Dystonia, Failure to thrive |
OMIM:619310 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spastic tetraplegia, Choreoathetosis, Adrenal insufficiency, Generalized hypotonia, Dystonia, Spa... |
OMIM:618238 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Cataract, Female hypogonadism, ... |
OMIM:240300 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... |
OMIM:219080 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Increased body mass index, Small for gestational age, Tremor, Cryptorchidism, Hypot... |
OMIM:300957 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Cogwheel rigidity, Hypertonia, Li... |
OMIM:613135 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Ectopia lentis, Limitation of joint mobility, Osteoporosis, Mitral valve prolapse, Lens subluxati... |
OMIM:236200 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Simplified gyral pattern, Lat... |
OMIM:617668 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:601098 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... |
ORPHA:158061 |
Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior, Hypotonia, Truncal obesity, Micropenis |
ORPHA:75858 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... |
ORPHA:101330 |
Alg2-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cataract, Lateral ventricle ... |
ORPHA:79326 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Dystonia 28 |
|
Torticollis, Generalized dystonia, Precocious puberty, Leg dystonia, Arm dystonia, Attention defi... |
ORPHA:589618 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Dysphagia, Retrocollis, Limb dystonia, Laryngeal dystonia |
OMIM:612067 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Axial hypotonia, Dystonia, Aggressive behavior, Inappropriate laughter, Bruxism, Abnormal repetit... |
OMIM:619150 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Hypergonadotropic hypogonadism, Azoospermia, Head tremor, Dystonia, Intention tremor |
OMIM:613724 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Joint stiffness, Rigidity, Choreoathetosis, Dystonia |
ORPHA:98810 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, Decreased liver function, Failure to thrive, Iris hypopigmentation |
ORPHA:67048 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Lymphocytosis, Dystonia |
OMIM:610181 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Abnormal lactate dehydrogena... |
ORPHA:42 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Conjunctival icterus, Jaundice, Intermitte... |
ORPHA:3111 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Axial hypotonia, Hypothyroidism, Dystonia |
OMIM:619647 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis, Oligomenorrhea |
OMIM:613877 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Peripheral demyelination |
OMIM:618279 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Failure to thrive, Delayed CNS m... |
OMIM:619487 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Facial hypotonia, Overweight, Generalized joint laxity, Hypotonia, Spastic dysarthria, Dystonia, ... |
ORPHA:280763 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Maternal diabetes, Splenomeg... |
ORPHA:79083 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Fasciitis, Myositis, Limit... |
ORPHA:39812 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Spastic tetraplegia, Congenital contracture, Dystonia, Arthrogryposis multiplex ... |
OMIM:618285 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... |
ORPHA:2137 |
Primary Dystonia, Dyt6 Type |
|
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... |
ORPHA:98806 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Peripheral demyelination, Segmental peripheral demyelination/remyelination |
ORPHA:2932 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination |
ORPHA:280234 |
Galactosemia I |
|
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotrans... |
OMIM:230400 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619386 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Ectopia lentis, Lens luxati... |
OMIM:252150 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Peripheral axonal neuropathy, Onion bulb formation |
OMIM:610100 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Hypogonadotropic hypogonadism, Hyper... |
ORPHA:298 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract ... |
ORPHA:79301 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... |
OMIM:609311 |
Griscelli Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Hepatitis, Ascites, Iris hypopigmentation |
ORPHA:381 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Compulsive behaviors, Dystonia, Oromandibular dystonia, Spastic pa... |
OMIM:615643 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Pituit... |
ORPHA:199299 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Intrauterine grow... |
OMIM:614602 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism, Primary a... |
OMIM:607080 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Cryptorchidism, Intrauterine growth retard... |
OMIM:618958 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Myelin outfoldings, Cerebral dysmyelination, Portal hypertension, Dysmyelinating leukodystrophy, ... |
OMIM:609136 |
Senior-Loken Syndrome |
|
Cataract, Short stature, Premature ovarian insufficiency, Congenital hepatic fibrosis, Abnormalit... |
ORPHA:3156 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Diabetes mellitus, Hepatic steatosis, Hyperlipidemia |
OMIM:615980 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:608673 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Dystonia |
OMIM:607488 |
Lissencephaly 5 |
|
Cataract, Subcortical band heterotopia, Spastic paraplegia, Hypotonia, Gray matter heterotopia, T... |
OMIM:615191 |
Mucolipidosis Iv |
|
Dystonia, Corneal opacity, Dysplastic corpus callosum, Hypotonia, Spastic tetraplegia, Hypergastr... |
OMIM:252650 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Dystonia |
OMIM:620245 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Sagittal craniosynostosis, Portal hypertension, Panc... |
OMIM:610199 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Huntington Disease |
|
Abnormal libido, Oral-pharyngeal dysphagia, Rigidity, Aggressive behavior, Weight loss, Addictive... |
ORPHA:399 |
Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy |
ORPHA:99953 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology |
OMIM:605253 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Axial hypotonia, Stereotypical hand wringing, Dystonia |
OMIM:618760 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Tremor, Inappropriate behavior, Rigidity, Dystonia |
ORPHA:401901 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:604563 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Cataract, Premature ovarian insufficiency, Pseudobulbar paralysis, Dystoni... |
ORPHA:101006 |
Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Macroorchidism, postpubertal, Male infertility, Hypergonadotropic ... |
ORPHA:91 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Cataract, Short stature, Growth delay, Epiphyseal stippling, Type I diabetes mellit... |
ORPHA:251009 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Aggressive behavior, Torsion dystonia, Choreoathetosis, Dystonia |
ORPHA:98811 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Hypotonia, Micropenis, Truncal obesity, Spasticity, Childhood-onset truncal obesity |
OMIM:610156 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Dystonia |
OMIM:619196 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Flexion contracture, Peripheral hypomyelination, Distal arthrogryposis |
OMIM:616287 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly |
OMIM:238970 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Peripheral demyelination |
OMIM:616684 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Right ventricular dilatation, Hepatic stea... |
ORPHA:369840 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:249900 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hypothyroidism, Obesit... |
ORPHA:412 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Increased circ... |
ORPHA:71212 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cataract, Small for gestational age, Simplified gyral pattern, Hypertonia, Arthrogryposis multipl... |
OMIM:615095 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Axial hypotonia, Oculogyric crisis, Hypertonia, Generalized hypotonia, Dystonia, Attention defici... |
OMIM:617384 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Hyp... |
ORPHA:247585 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Short stature, Hyperlipidem... |
OMIM:232400 |
Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Kinetic tremor, Rigidity, Head tremor, Dystonia, Spasticity |
ORPHA:101109 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Ventricular s... |
OMIM:619418 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregula... |
OMIM:615238 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, P... |
OMIM:604367 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Tremor, Torticollis, Axial hypotonia, Dystonia |
OMIM:618425 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Short stature, Portal hypertension, Hypersplenism, Sp... |
OMIM:613385 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral ... |
OMIM:616171 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
Raynaud-Claes Syndrome |
|
Lower limb spasticity, Dystonia, Aggressive behavior, Hypotonia, Compulsive behaviors, Generalize... |
OMIM:300114 |
Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:617899 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cryptorchidism, Generalized hypotonia, Dystonia, Neonatal death, Arthrogryposis multiplex congenita |
OMIM:611890 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination |
OMIM:162500 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
Glutaric Acidemia I |
|
Hepatomegaly, Delayed myelination, Symmetrical progressive peripheral demyelination, Lateral vent... |
OMIM:231670 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevat... |
ORPHA:171 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hypersplenism, Splenomegaly,... |
ORPHA:231226 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Claw hand deformity, Axonal regener... |
OMIM:605285 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Dystonia, Spasticity, Abnormal rep... |
OMIM:618917 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Secondary amen... |
ORPHA:2348 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, F... |
ORPHA:172 |
Baker-Gordon Syndrome |
|
Joint laxity, Choreoathetosis, Self-injurious behavior, Dystonia, Neonatal hypotonia, Abnormal re... |
OMIM:618218 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic steatosis... |
ORPHA:79259 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Infantile axial hypotonia, Tremor, Scissor gait, Dystonia, Oromandib... |
ORPHA:521406 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:617093 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation |
OMIM:618184 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Dysphagia, Generalized hypotonia, Limb dystonia, Craniofacial dystonia |
ORPHA:71517 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Tremor, Dystonia, Spasticity |
OMIM:607317 |
Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Tremor, Bruxism, Dysphagia, Hypertonia, Agitation, Dystonia, Spasticity, Abnorma... |
OMIM:617435 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Growth delay, Hypocholesterolem... |
ORPHA:71 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Delayed myelination, Optic atrophy, Knee flexion con... |
ORPHA:79322 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination |
ORPHA:99944 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:79085 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
Developmental And Epileptic Encephalopathy 53 |
|
Hypotonia, Spastic tetraplegia, Dystonia |
OMIM:617389 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Tremor, Hypotonia, Dysphagia, Dystonia |
OMIM:617916 |
Leukodystrophy, Hypomyelinating, 18 |
|
Flexion contracture, Spastic tetraplegia, Progressive spasticity, Dystonia, Spasticity, Failure t... |
OMIM:618404 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lower limb spasticity, Obesity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:616756 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Ventricular septal defect, Craniosynostosis, Precocious puberty, Cryptorchidis... |
ORPHA:254346 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Overweight, Spastic paraplegia, Flexion contracture, Hypertonia, Dystonia, Neonatal hypotonia, Sp... |
OMIM:614066 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Dystonia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Death in childhood, Self-... |
OMIM:619422 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Premature ovarian insufficiency, Hand tremor, Lateral ventricle dilatation, Dystonia, Spasticity |
OMIM:615889 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Adrenocorticotropin deficien... |
ORPHA:199296 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Dystonia 12 |
|
Tremor, Torticollis, Dysphagia, Dystonia |
OMIM:128235 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Abnormality of n... |
ORPHA:2204 |
Laurence-Moon Syndrome |
|
Cataract, Short stature, Congenital hepatic fibrosis, Cryptorchidism, Obesity, Type II diabetes m... |
ORPHA:2377 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... |
ORPHA:139402 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Ankle flexion contracture, Axonal loss, Distal arthrogryposis, Peripheral hypomyelination, Onion ... |
OMIM:611228 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis media, Chroni... |
ORPHA:169160 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve mo... |
ORPHA:781 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Tremor, Delayed menarche, Oculogyric crisis, Dystonia |
ORPHA:330050 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... |
OMIM:605588 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Elevated cir... |
OMIM:214900 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypotonia, Generalized hypotonia, Dystonia |
OMIM:618244 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Axial hypotonia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Spasticity |
OMIM:612716 |
Gaucher Disease Type 2 |
|
Dystonia, Splenomegaly, Flexion contracture, Dysphagia, Spasticity |
ORPHA:77260 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Increased circula... |
ORPHA:90790 |
Partington Syndrome |
|
Lower limb spasticity, Flexion contracture, Focal dystonia, Limb dystonia, Camptodactyly |
OMIM:309510 |
Sulfite Oxidase Deficiency, Isolated |
|
Death in infancy, Axial hypotonia, Generalized dystonia, Ectopia lentis, Choreoathetosis, Hyperto... |
OMIM:272300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Axonal degeneration/r... |
OMIM:600882 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... |
OMIM:605814 |
Dystonia 16 |
|
Torticollis, Postural tremor, Dysphagia, Limb dystonia |
ORPHA:210571 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dysphagia, Dystonia |
ORPHA:1171 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Cogwheel rigidity, Dystonia, Spasti... |
OMIM:128230 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Generalized dystonia, Oculogyric crisis, Small for gestational age, Leg dystonia, Pseud... |
OMIM:607371 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Small for gestational age, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperto... |
OMIM:261640 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Failure to thrive |
OMIM:230350 |
Allan-Herndon-Dudley Syndrome |
|
Axial hypotonia, Small for gestational age, Abnormality of thyroid physiology, Failure to thrive ... |
ORPHA:59 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Severe muscular hypotonia, Simplified gyral pattern, Lissencephaly, De... |
OMIM:613153 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M... |
OMIM:616212 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia |
OMIM:614249 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Pericarditis, Hypergonadotropic hypogona... |
OMIM:212065 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Lower limb spasticity, Generalized dystonia, Dystonia, Limb joint contracture, Spastic tetrapares... |
OMIM:205100 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Cataract, Corneal opacity, Ventricular septal defect, Skin ra... |
ORPHA:290 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Segawa Syndrome, Autosomal Recessive |
|
Tremor, Axial hypotonia, Rigidity, Limb dystonia |
OMIM:605407 |
Christianson Syndrome |
|
Death in early adulthood, Dystonia, Cachexia, Joint hyperflexibility, Inappropriate laughter, Dys... |
ORPHA:85278 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Hemidystonia, Hypotonia, Dysphagia, Limb dystonia, Spasticity, Failure ... |
ORPHA:508093 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Athetosis, Axial hypotonia, Restlessness, Dystonia |
OMIM:615159 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Osteomalacia, Elevated circulating aspar... |
OMIM:277900 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Abnormal muscle t... |
ORPHA:89844 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia, Abnormal cortical bone morphology, Agenesis of corpus callosum |
ORPHA:2512 |
Infantile Refsum Disease |
|
Hepatomegaly, Very long chain fatty acid accumulation, Cataract, Facial palsy, Short stature, Opt... |
ORPHA:772 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Molybdenum cofactor deficiency, Ectopia lentis, Lens luxation, Growth delay, Axonal loss, Periphe... |
OMIM:252160 |
Periventricular Nodular Heterotopia 7 |
|
Axial hypotonia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contr... |
OMIM:617201 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... |
ORPHA:829 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Hypotonia, Athetosis, Self-injurious behavior, Dystonia |
ORPHA:382 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Flexion contracture, Onion bulb formation, Facial palsy |
OMIM:607684 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Hand tremor |
OMIM:608105 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Stiff neck, Dystonia, Generalized hypotonia, Dysphagia |
OMIM:618230 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Osteopenia, Hypotonia, Self-injurious behavior, Generalized hypotonia, Dystonia, Recurrent hand f... |
OMIM:617268 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Torsion d... |
OMIM:128100 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Joint laxity, Hyperactivity, Periventricular heterotopia, Self-biti... |
OMIM:300624 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... |
ORPHA:228426 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Failure to thrive in infancy, Hypercholest... |
ORPHA:247598 |
4H Leukodystrophy |
|
Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, A... |
ORPHA:289494 |
Huntington Disease-Like 2 |
|
Weight loss, Dystonia |
ORPHA:98934 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Death in infancy, Cataract, Severe muscular hypotonia, Wide anterior fontanel, Epiphyseal stippli... |
OMIM:614872 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Jaundice, Steatorrhea, Calv... |
OMIM:612714 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract, Hypotonia, Abnormality of neuronal migration |
ORPHA:65 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Abnormal cortical gyration, Cryptorchidism, Polym... |
ORPHA:899 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Spastic tetraparesis, Rigidity, Dysphagia, Cogwheel rigidity, Choreoathetosis, Hyperton... |
ORPHA:225154 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Achilles tendon contracture, Elbow flexion contracture, Hypotonia, Abnormality of neu... |
OMIM:608840 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Enteroviral enc... |
OMIM:308230 |
Baralle-Macken Syndrome |
|
Cataract, Obesity, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:619255 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Limb dystonia,... |
ORPHA:93958 |
3-Hydroxyisobutyric Aciduria |
|
Failure to thrive, Abnormality of neuronal migration |
OMIM:236795 |
Immunodeficiency 56 |
|
Cholangitis, Chronic hepatitis due to cryptosporidium infection, Recurrent pneumonia, Bronchiecta... |
OMIM:615207 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Lower limb spasticity, Axial hypotonia, Hypotonia, Generalized dystonia |
OMIM:619389 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Splenomegaly, Flex... |
OMIM:613327 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Cataract, Severe muscular hypotonia, Axial hypotonia, Choreoathetosis, Dystonia |
OMIM:614932 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... |
OMIM:604484 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Severe temper tantrums, Spastic gait, Spastic tetraparesis |
OMIM:619052 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Hepatomegaly, Delayed CNS myelination, Cataract, Short stature, Decreased body weig... |
OMIM:607906 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
ORPHA:2088 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, De... |
OMIM:271245 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Hepatitis, Arthritis, Erythroderma, Type I diabetes mellitus, Failure... |
OMIM:304790 |
Spinocerebellar Ataxia Type 2 |
|
Kinetic tremor, Postural tremor, Abnormal cortical gyration, Generalized hypotonia, Dystonia |
ORPHA:98756 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Arthritis, Car... |
OMIM:602390 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7 |
|
Hypotonia, Dystonia |
OMIM:620359 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Achilles tendon contracture, Gray matter heterotopia, Generalized hypotonia, Neonatal hypotonia, ... |
ORPHA:370980 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Short stature, Splenomegaly, Limi... |
ORPHA:93476 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Abnormal pupil morphology, Peripheral dysmyelination |
ORPHA:101082 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Dysphagia, Spasticity |
OMIM:617008 |
Metachromatic Leukodystrophy |
|
Reduced leukocyte arylsulfatase A activity, Optic atrophy, Gallbladder dysfunction, Cholecystitis... |
OMIM:250100 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Growth delay |
OMIM:204000 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Cachexia, Head titubation, Spastic diplegia, Dysphagia, Op... |
ORPHA:300605 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Death in childhood, Generalized hypotonia, Dystonia |
OMIM:618224 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Inappropriate behavior, Disinhibition, Dystonia, Abn... |
OMIM:600795 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Hypotonia, Choreoathetosis, Neutropenia, Fail... |
ORPHA:79312 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Subcapsular cataract, Hepatic steatosis |
OMIM:275630 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypothyroidism, ... |
ORPHA:699 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... |
OMIM:300972 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
Developmental And Epileptic Encephalopathy 44 |
|
Axial hypotonia, Athetosis, Dystonia, Spasticity, Failure to thrive |
OMIM:617132 |
Pseudo-Torch Syndrome 1 |
|
Axial hypotonia, Cataract, Pachygyria, Splenomegaly, Hypotonia, Lissencephaly, Opacification of t... |
OMIM:251290 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Severe demyelination of the white matter, Atrophy of the spinal cord, Jaundice, Dilated cardiomyo... |
ORPHA:79282 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
3-Methylglutaconic Aciduria, Type I |
|
Spastic tetraplegia, Athetosis, Dystonia, Spasticity, Failure to thrive, Self-mutilation |
OMIM:250950 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Cryptorchidism, Spastic tetraplegia, Hypotonia, Opisthotonus, Micropen... |
OMIM:619847 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Joint hyperflexibility, Failure to thrive, Upper limb hypertonia, Limb dystonia |
ORPHA:319199 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hepatitis, Bronchiectasis, Infectious encephalitis |
ORPHA:1163 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Hypotonia, Dystonia |
OMIM:615338 |
Gaucher Disease |
|
Osteopenia, Osteoarthritis, Hepatomegaly, Increased bone mineral density, Short stature, Abnormal... |
ORPHA:355 |
Zellweger Syndrome |
|
Hepatomegaly, Failure to thrive, Posterior embryotoxon, Corneal opacity, Cataract, Very long chai... |
ORPHA:912 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Knee flexion contracture, Gray matter heterotopia, Astigmatism, Camptodactyly, Spasticity |
OMIM:619694 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, ... |
OMIM:613313 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation... |
OMIM:616263 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus cal... |
ORPHA:2524 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... |
ORPHA:91138 |
Adult Krabbe Disease |
|
CNS demyelination, Peripheral demyelination, Erectile dysfunction, Abnormal circulating enzyme co... |
ORPHA:206448 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Generalized hypotonia, D... |
OMIM:233910 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435660 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Leukodystrophy, Otitis media, Juvenile cataract, Hepatic steatosis, Iris c... |
OMIM:619475 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Colitis, Hypothyroidism, Hyperthyroidism, Psoriasiform de... |
ORPHA:37042 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Death in early adulthood, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Dysphagia, Dyst... |
OMIM:607694 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Hepatic steatosis, Membranoproliferative glomerulonephritis, Polycystic ovaries |
OMIM:608709 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Ascites |
ORPHA:584 |
Manganese Poisoning |
|
Decreased female libido, Postural tremor, Aggressive behavior, Hypersexuality, Cogwheel rigidity,... |
ORPHA:306682 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Atypical Rett Syndrome |
|
Restrictive behavior, Tremor, Tongue thrusting, Hypotonia, Pill-rolling tremor, Abnormal muscle t... |
ORPHA:3095 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Cataract, Growth delay, Delayed puberty, Joint contracture, Erysipelas |
OMIM:615704 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Growth delay, Ascites, Adrenal insuf... |
ORPHA:75233 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Conjunctivitis |
OMIM:603552 |
Bilateral Generalized Polymicrogyria |
|
Axial hypotonia, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Self-injuriou... |
ORPHA:208447 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:98793 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Recurrent fractures, Cryptorchidism, Osteoporosis, Abnormality of the Leydig cells, ... |
ORPHA:3063 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Hypotonia, Choreoathetosis, Bruxism, Stereotypical hand wringing |
OMIM:618497 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Hypotonia, Choreoathetosis, Dysphagia, Spasticity |
OMIM:618088 |
Neonatal Adrenoleukodystrophy |
|
Cataract, Wide anterior fontanel, Primary adrenal insufficiency, Hypotonia, Abnormality of neuron... |
ORPHA:44 |
Primary Biliary Cholangitis |
|
Portal hypertension, Abnormality of the thyroid gland, Jaundice, Hepatic failure, Osteoporosis, B... |
ORPHA:186 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... |
OMIM:620010 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Hypercholesterolemia, Peripheral axonal n... |
OMIM:607250 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia |
OMIM:260300 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:98754 |
Cockayne Syndrome B |
|
Hepatomegaly, Severe short stature, Small for gestational age, Abnormal peripheral myelination, P... |
OMIM:133540 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cataract, Brushfield spots, Cry... |
OMIM:214110 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Dystonia |
OMIM:104290 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Obesity, Generalized hypotonia, Dystonia, Jo... |
ORPHA:480907 |
Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Axial hypotonia, Hypotonia, Dystonia |
OMIM:616139 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Rigidity, Splenomegaly, Dystonia, Thrombocytopenia |
OMIM:615010 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Cryptorchidism |
OMIM:613730 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Growth delay, ... |
OMIM:253250 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransf... |
OMIM:608836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Small for gestational age, Hypotonia, Choreoathetosis, Limb dystonia |
OMIM:619054 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Axial hypotonia, Ankle flexion contracture, Developmental cataract, Choreoatheto... |
ORPHA:319514 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Peripheral axonal neuropathy, Dysplastic corpus callosum, Developmental cataract, H... |
OMIM:618810 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:177904 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Ir... |
ORPHA:227982 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Intrauterine growth retardation, Fai... |
OMIM:613861 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Attention deficit hyperactivity disorder, Hypotonia, Aggressive behavior, Dystonia |
OMIM:619157 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Glutathionuria |
|
Tremor, Gray matter heterotopia, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Spinocerebellar Ataxia 48 |
|
Tremor, Cachexia, Dysphagia, Dystonia |
OMIM:618093 |
Neu-Laxova Syndrome |
|
Osteopenia, Cataract, External genital hypoplasia, Osteomalacia, Abnormal cortical gyration, Flex... |
ORPHA:2671 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Cataract, Growth delay, Cardiomyopathy, Hypothy... |
ORPHA:445038 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:177901 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... |
ORPHA:98908 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal in... |
ORPHA:227990 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Dystonia, Limb h... |
ORPHA:70594 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Decreased circulating plasmalogen concentration, Cataract, Rhizomelia, Optic nerve hy... |
OMIM:222765 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Dysphagia, Dystonia, Spasticity, Infantile muscu... |
ORPHA:500180 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Dystonia, Hypotonia, Choreoathetosis, Colpocephaly, Death in childhood, Spastic... |
OMIM:616034 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Delayed CNS myelination, Ventricular septal defect, Recurrent skin infections, Shor... |
OMIM:620210 |
Subependymal Nodular Heterotopia |
|
Partial agenesis of the corpus callosum, Abnormality of neuronal migration, Gray matter heterotop... |
ORPHA:101030 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased circulating free fatty acid level, Large for gestational age, Abnormal circulating insu... |
ORPHA:293964 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... |
ORPHA:1414 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Tremor, Increased susceptibility to fractures, Dysphagia, Spasticity |
OMIM:304700 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets, Steatorrhea |
OMIM:607748 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites |
ORPHA:890 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Dystonia, Athetosis, Self-injurious behavior, Generalized hypotonia, Dysphagia, Spasticity |
OMIM:617493 |
Abetalipoproteinemia |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Hypothyroidism, Steatorrhe... |
ORPHA:14 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Cryptorchidism, Dystonia, Infantile muscular hypotonia, Premature pubarche |
ORPHA:457205 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlip... |
ORPHA:444490 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat... |
ORPHA:454836 |
Desmosterolosis |
|
Increased bone mineral density, Abnormal cortical gyration, Rigidity, Splenomegaly, Pachygyria, A... |
ORPHA:35107 |
Edinburgh Malformation Syndrome |
|
Joint stiffness, Brushfield spots, Abnormality of neuronal migration, Hypertonia, Failure to thrive |
ORPHA:1895 |
Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Writer's cramp, Dystonia |
ORPHA:98809 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Spastic diplegia, Dystonia |
OMIM:619065 |
Huntington Disease-Like 2 |
|
Rigidity, Weight loss, Action tremor, Dystonia |
OMIM:606438 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Delayed CNS myelination, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:614924 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Cataract, Decreased number of large peripheral myelinated nerv... |
OMIM:162400 |
Werner Syndrome |
|
Cataract, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Hyper... |
OMIM:277700 |
Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Hypotonia, Death in childhood, Dystonia |
OMIM:203740 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Pericardial effusion, Splenom... |
OMIM:615846 |
Ruijs-Aalfs Syndrome |
|
Cataract, Short stature, Hepatocellular carcinoma, Posterior subcapsular cataract, Elbow flexion ... |
OMIM:616200 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Pachygyria, Hypotonia, Dystonia |
OMIM:620094 |
Cockayne Syndrome A |
|
Hip contracture, Hepatomegaly, Cataract, Short stature, Abnormal peripheral myelination, Splenome... |
OMIM:216400 |
Juvenile Huntington Disease |
|
Hyperactivity, Rigidity, Weight loss, Dystonia, Oral motor hypotonia |
ORPHA:248111 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Death in infancy, Cataract, Subcortical heterotopia, Agyria, Peters anomaly, Partial agenesis of ... |
OMIM:614643 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Partial agenesis of the corpus callo... |
OMIM:619653 |
Developmental And Epileptic Encephalopathy 1 |
|
Axial hypotonia, Spastic tetraparesis, Dysphagia, Choreoathetosis, Hypertonia, Dystonia, Micropenis |
OMIM:308350 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Spasticity, Dysphagia, Dystonia |
OMIM:500001 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Choreoathetosis, Hypertonia, Dystonia, Spasticity |
ORPHA:71277 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Kerat... |
ORPHA:728 |
Pontocerebellar Hypoplasia, Type 2B |
|
Death in infancy, Axial hypotonia, Hypotonia, Dysphagia, Opisthotonus, Death in childhood, Simpli... |
OMIM:612389 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Tremor, Rigidity, Dystonia, Spastic paraparesis |
ORPHA:329284 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, A... |
OMIM:312170 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Neuromuscular dysphagia, Rigidity, Dystonia |
ORPHA:240085 |
Leukodystrophy, Hypomyelinating, 16 |
|
Hypotonia, Choreoathetosis, Hypertonia, Dystonia, Failure to thrive, Intention tremor |
OMIM:617964 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Hypotonia, Simplified gyral pattern, Joint contracture of the 5th finger, Generalized hypotonia, ... |
OMIM:614407 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Spasticity, Failure to thrive, Hypotonia, Dystonia |
OMIM:617954 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:616277 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... |
ORPHA:369929 |
Lichen Planopilaris |
|
Pterygium, Hepatitis |
ORPHA:525 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Reduced car... |
ORPHA:228305 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:79086 |
Spinocerebellar Ataxia Type 11 |
|
Dysphagia, Dystonia |
ORPHA:98767 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Death in infancy, Tremor, Hypotonia, Dysphagia, Choreoathetosis, Joint contracture, Dystonia, Spa... |
OMIM:617664 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Wide anterior fontanel, Dysplastic corpus callosum, Hypotonia, Increased suscept... |
ORPHA:357058 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Spastic paraplegia, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia, Dystonia |
OMIM:614898 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Dystonia |
OMIM:614820 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Axonal loss, Onion bulb formation, Claw hand deformity, Segmental peripheral demyelination/remyel... |
OMIM:601455 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Lateral ventricle dilatation, Generalized hypotonia, Dystonia |
ORPHA:306669 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Dystonia |
OMIM:125370 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... |
OMIM:209920 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Hepatitis, Cholelithiasis |
OMIM:194380 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Hepatomegaly, Hypoparathyroidism, Diabetes mellitus, Hepatocellular carcinoma, Spinal... |
ORPHA:231222 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Postural tremor, Oculogyric crisis, Rigidity, Hypotonia, Focal dystonia, Ge... |
ORPHA:101150 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Spastic tetraplegia, Hypotonia, Athetosis, Self-injurious behavior, Dystonia |
OMIM:619922 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Generalized neonatal hypotonia, Dystonia |
ORPHA:352596 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Hyperlipidemia, Hepatic calcification... |
ORPHA:228308 |
Congenital Enterovirus Infection |
|
Skin rash, Fetal ascites, Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Cardiomyopat... |
ORPHA:292 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Delayed CNS myelination, Cataract, Cholangitis, Microvesicular hep... |
OMIM:124000 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Hypertriglyceri... |
ORPHA:275761 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Spastic tetraplegia, Dystonia |
OMIM:618646 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Writer's cramp, Tremor, Rigidity, Dysphagia, Choreoathetosis, Blepharospasm, Disinhibition, Dysto... |
OMIM:606159 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Agenesis of corpus callosum, Obesity |
OMIM:604360 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Abnormal peripheral myelination, Increa... |
ORPHA:168563 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Lower limb spasticity, Posterior capsular cataract, Spastic paraplegia, Upper limb spasticity, Dy... |
OMIM:609195 |
Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia |
OMIM:611031 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Partial agenesis of the corpus callosum, Flexion contracture, Hypotoni... |
ORPHA:79243 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Aggressive behavior, Precocious puberty, Hypotonia, Obesity... |
ORPHA:163681 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Spastic paraplegia, Spastic tetraplegia, Dystonia, Neona... |
OMIM:245349 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Hyp... |
OMIM:269700 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Torsion dystonia |
OMIM:314250 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Reduced bone mineral density, Axonal loss, Hepatomegaly, Micron... |
ORPHA:404454 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Generalized hypotonia, Dystonia, Spasticity, Hypothyroidism |
OMIM:613970 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Growth delay, Decreased 3-hy... |
OMIM:231530 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity,... |
ORPHA:621 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycle metabo... |
ORPHA:255210 |
Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia |
OMIM:612390 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accumulation,... |
OMIM:261515 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... |
ORPHA:882 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enter... |
OMIM:307200 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Axial hypotonia, Dystonia, Hypotonia, Generalized hypotonia, Dysphagia, Failure to thrive |
OMIM:618226 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased ser... |
ORPHA:280365 |
Spinocerebellar Ataxia 14 |
|
Attention deficit hyperactivity disorder, Dysphagia, Focal dystonia |
OMIM:605361 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Hypotonia, Dys... |
OMIM:312080 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Rigidity, Generalized dystonia, Hypotonia, Dystonia |
OMIM:618239 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Reduced bone mineral density, Ascites, ... |
ORPHA:834 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Dystonia |
OMIM:600116 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Dystonia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Spasticity, Thrombo... |
OMIM:610333 |
Hypermanganesemia With Dystonia 2 |
|
Axial hypotonia, Generalized dystonia, Dystonia, Limb joint contracture, Tremor, Achilles tendon ... |
OMIM:617013 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Delayed myelination, CNS hypomyelination, Cardiomyopathy, Decreased liver function,... |
OMIM:614922 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Short stature, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomy... |
OMIM:256550 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Dystonia |
OMIM:617829 |
Ollier Disease |
|
Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multiple enchondr... |
ORPHA:296 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Elevated circu... |
OMIM:619573 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:617253 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Hypotonia, Rickets, Death in adolescence, Death in childhood, Type I diabetes melli... |
OMIM:560000 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hepatic steatosis... |
ORPHA:79474 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Dystonia |
OMIM:618418 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic erectile dysfunction, Impotence, Symmetric peripheral demyelination, Leukodystrophy |
OMIM:169500 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Oculogyric crisis, Rigidity, Hypotonia, Dysphagia, Opisthotonus, Choreoathetosis, H... |
ORPHA:13 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Short stature, CNS hypomyelination, Esopha... |
OMIM:615356 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Increased circulati... |
ORPHA:99901 |
Cimdag Syndrome |
|
Hepatomegaly, Microvesicular hepatic steatosis, Developmental cataract, Hypogonadism, Cholelithiasis |
OMIM:619273 |
Filippi Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Decreased body weight, Dystonia |
OMIM:272440 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Dia... |
OMIM:608594 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Dystonia |
OMIM:605909 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Rhizomelia, Recurrent pneumonia, Flexion contracture, Growth delay, Zonular cataract, I... |
OMIM:616271 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers |
OMIM:615376 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Flexion contracture, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:619224 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Skin rash, Decreased response to growth hormone stimulatio... |
ORPHA:1855 |
Harel-Yoon Syndrome |
|
Axial hypotonia, Corneal opacity, Hypotonia, Developmental cataract, Dystonia, Spasticity |
OMIM:617183 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cataract, Simplified gyral pattern, Hypotonia, Dystonia, Spasticity |
OMIM:619286 |
Partington Syndrome |
|
Macroorchidism, Lower limb spasticity, Limb dystonia |
ORPHA:94083 |
Developmental And Epileptic Encephalopathy 86 |
|
Small for gestational age, Generalized hypotonia, Dystonia |
OMIM:618910 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Optic disc coloboma, Weight loss, Arthritis, Cholestatic liver disease... |
ORPHA:92050 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... |
ORPHA:549 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp... |
OMIM:228000 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Joint laxity, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, ... |
ORPHA:541423 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Osteolysis, Weight loss |
ORPHA:100024 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenom... |
OMIM:211600 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Cataract, Short stature, Dilated cardiomyopathy, Optic atrophy, Hypogonadism, Hyper... |
ORPHA:254913 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia |
ORPHA:99657 |
Brain Small Vessel Disease 2 |
|
Polymicrogyria, Subcortical heterotopia, Spastic tetraplegia |
OMIM:614483 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Optic atrophy, Increas... |
OMIM:261680 |
Leukodystrophy, Hypomyelinating, 15 |
|
Dysphagia, Athetosis, Dystonia, Spasticity, Failure to thrive, Intention tremor |
OMIM:617951 |
Alg3-Cdg |
|
Osteopenia, Cataract, Spastic tetraparesis, Abnormality of the endocrine system, Hypotonia, Hyper... |
ORPHA:79321 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Decreased number of peripheral myelinated nerve fibers, Overriding aorta, Bicuspid ... |
ORPHA:477817 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Lower limb spasticity, Spastic paraplegia, Spastic gait, Dystonia |
OMIM:607565 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Axial hypotonia, Hypospadias, Small for gestational age, Neutropenia, Simplified gyral pattern, G... |
OMIM:618253 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated gamma-glutamyltransferase level, Atrial septal defect, Agenesis of corpus callosum, Intr... |
OMIM:614866 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Flexion contracture, Facial diple... |
OMIM:218000 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dystonia |
OMIM:618049 |
Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Recurrent hand flapping, Dystonia |
OMIM:618141 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Small for gestational age, Pachygyria, Cryptorchidism, Spastic tetraplegi... |
OMIM:620024 |
Pontocerebellar Hypoplasia, Type 9 |
|
Axial hypotonia, Facial hypotonia, Dysphagia, Hypertonia, Dystonia, Spasticity |
OMIM:615809 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... |
OMIM:611590 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation, Claw hand deformity |
OMIM:614455 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Leukodystrophy, Hypomyelinating, 5 |
|
CNS hypomyelination, Onion bulb formation, Leukodystrophy, Developmental cataract |
OMIM:610532 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, ... |
ORPHA:98805 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Developmental cataract, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Spasticity, Failure to thrive, Generalized hypotonia, Dystonia |
OMIM:617873 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Type II lissencephaly, Dysgyria |
ORPHA:352682 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Delayed CNS myelination, Short stature, Elevated circulating asp... |
OMIM:257200 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Hypotonia, Dystonia, Failure to thrive, Agenesis of corpus callosum |
OMIM:250620 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Rigidity, Generalized hypotonia, Dystonia |
OMIM:617836 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic dysarthria, Spasticity, Dystonia |
ORPHA:314603 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Aggressive behavior, Acanthocyto... |
OMIM:200150 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Dystonia, Flexion contracture, Simplified gyral pattern, Congenital contracture, Joint contractur... |
OMIM:618397 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy... |
OMIM:306000 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Corneal opacity, Craniosy... |
OMIM:301056 |
Episodic Ataxia, Type 9 |
|
Dystonia |
OMIM:618924 |
Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria |
ORPHA:99802 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Limb joint contracture, Rigidity, Hypotonia, Dysphagia, Blepharospasm, Athetosis, Dystonia, Spast... |
OMIM:617282 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia |
OMIM:602124 |
Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Pill-rolling tremor, Dystonia, Spasticity, Limb hypertonia |
OMIM:615528 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Spasticity, Generalized dystonia, Failure to thrive |
OMIM:618235 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tremor, Postural tremor, Rigidity, Dystonia |
ORPHA:314632 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
OMIM:619616 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Hepatocellular necrosis, Periportal fibros... |
OMIM:201475 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dysphagia, Dystonia |
OMIM:300857 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Very long chain fatty acid accumulation, Osteoporosis, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Axial hypotonia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Atheto... |
OMIM:617710 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Periventricular heterotopia, Hypotonia, Lateral ventricle dilatation, Dystonia |
OMIM:614105 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Sinusitis, Myositis, Pneumonia, Skin rash, Glomerulonephritis, Myocardi... |
ORPHA:36234 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Hypotonia, Choreoathetosis, Dystonia, Neonatal hypotonia |
OMIM:245348 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont... |
ORPHA:367 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal endocardium morphology, Dyspareunia, Skin rash, Cheilitis, Hepatitis |
ORPHA:1334 |
Transketolase Deficiency |
|
Hepatomegaly, Atrial septal defect, Cataract, Ventricular septal defect, Proportionate short stat... |
ORPHA:488618 |
Myopathy With Extrapyramidal Signs |
|
Joint laxity, Hyperactivity, Tremor, Splenomegaly, Leukocytosis, Perisylvian polymicrogyria, Hypo... |
OMIM:615673 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia, Cataract, Iris coloboma |
OMIM:300337 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Inflammatory abnormality of the skin, Short stature, Eczema, Abnormality of the endoc... |
ORPHA:391487 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Athetosis, Spasticity, Dystonia |
OMIM:612951 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Axial hypotonia, Puberty and gonadal disorders, Obesity, Dystonia, Spastic... |
ORPHA:464282 |
Continuous Spikes And Waves During Sleep |
|
Aggressive behavior, Dystonia |
ORPHA:725 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Optic atrophy, Bile duct proliferation, Macrovesicular hepatic ste... |
OMIM:618329 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Hepatic steatosis, Thyroid carcinoma |
ORPHA:210548 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Monosomy 13Q34 |
|
Hepatic steatosis, Metrorrhagia, Obesity, Growth delay, Pulmonic stenosis, Common atrium, Agenesi... |
ORPHA:96168 |
Cystinosis |
|
Corneal opacity, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Rickets, Delayed... |
ORPHA:213 |
Myasthenia Gravis |
|
Myositis, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Abnormal thymus morphology, ... |
ORPHA:589 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypogonadotropic hypogonadism, Postural tremor, Dysphagia, Spastic dysarthria, Dystonia, Spastici... |
ORPHA:447896 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Corneal opacity, Camptodactyly of finger, Joint stiffness, Tremor, Splenome... |
ORPHA:354 |
Glut1 Deficiency Syndrome 1 |
|
Choreoathetosis, Paroxysmal dystonia, Spasticity |
OMIM:606777 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Increased circulating lactate dehydr... |
OMIM:259700 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Failure to thrive, Dystonia |
OMIM:300475 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Rigidity, Anisocoria, Pseudoexfoliation, Pigment deposition i... |
OMIM:177650 |
Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Limited wrist movement, Decreased number of large peripheral my... |
ORPHA:99948 |
Lipoyltransferase 1 Deficiency |
|
Death in infancy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia |
OMIM:616299 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Cryptorchidism, Hypotonia, Dystonia, Failure to thrive |
ORPHA:88639 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Cryptorchidism, Agenesis of corpus callosum |
OMIM:164180 |
Spinocerebellar Ataxia 17 |
|
Aggressive behavior, Rigidity, Dysphagia, Dystonia, Intention tremor |
OMIM:607136 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Hypotonia, Dystonia, Spasticity, Intention tremor |
OMIM:614458 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Eleva... |
OMIM:601847 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm... |
OMIM:609981 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:612438 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Axial hypotonia, Dystonia, Simplified gyral pattern, Dysphagia, Agenesis... |
OMIM:617669 |
Developmental And Epileptic Encephalopathy 6B |
|
Axial hypotonia, Hypotonia, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms |
OMIM:619317 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Cachexia, Hypotonia, Athetosis, Joint hyperflexibility, Hypertonia, Dystonia, Self... |
ORPHA:52503 |
Congenital Macroglossia |
|
Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... |
ORPHA:786 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Tremor, Rigidity, Focal dystonia, Dysphagia, Progressive extrapyramidal muscular rigidity |
ORPHA:240103 |
Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... |
ORPHA:79319 |
Triploidy |
|
Hepatomegaly, Cataract, Abnormality of the pancreas, Cryptorchidism, Abnormality of the gallbladd... |
ORPHA:3376 |
Zygomycosis |
|
Pericarditis, Diabetes mellitus, Fasciitis, Sinusitis, Gastritis, Pustule, Myocarditis, Peritonit... |
ORPHA:73263 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Rigidity, Generalized dystonia, Hypertonia, Limb dystonia |
OMIM:618824 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash... |
OMIM:617591 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Axial hypotonia, Supernumerary nipple, Impulsivity, Periventricular heterotopia, Cryptorchidism, ... |
OMIM:618929 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Hypospadias, Adrenal hypoplasia, Brushfield spots, Cryptorchidism, Wide anterior fontan... |
OMIM:214100 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Abnormal spinal cord morphology, Herpes simplex encephalitis, Optic neuritis, CN... |
ORPHA:83597 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Death in childhood, Hypotonia, Dystonia |
OMIM:246900 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Osteopetrosis, Failure to thrive |
OMIM:615085 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Spasticity, Hypotonia, Dystonia |
OMIM:251950 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... |
ORPHA:572 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Reduced bone mineral density,... |
OMIM:619377 |
Cadds |
|
Elevated hepatic transaminase, Cataract, Cholangitis, Adrenal hypoplasia, Cholestasis, Intrauteri... |
ORPHA:369942 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Bicuspid aortic valve, Mitral atresia, Microvesicular hepatic steatosi... |
OMIM:220111 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Opisthotonus, Increased susceptibility to fractures, Weight loss, Attention... |
ORPHA:216866 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Hypotonia, Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:606703 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Hypotonia, Dystonia |
ORPHA:139485 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Myelin outfoldings, Onion bulb formation |
OMIM:615284 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Dystonia, Neonatal death, Arthrogryposis m... |
OMIM:618186 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Impulsivity, Hypotonia, Lateral ventricle dilatation, Attention deficit hy... |
OMIM:617854 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Optic disc pallor, Cataract, Failure to thrive in infancy, Skin ra... |
OMIM:610377 |
Infantile Dystonia-Parkinsonism |
|
Axial hypotonia, Oculogyric crisis, Hypertonia, Dystonia, Limb hypertonia |
ORPHA:238455 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cataract, Abnormal peripheral myelination, Atrophy of the spinal cord, Atopic dermatitis, Joint c... |
ORPHA:466768 |
Infantile Convulsions And Choreoathetosis |
|
Choreoathetosis, Athetosis, Dystonia |
ORPHA:31709 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Tremor, Spasticity, Dysphagia, Dystonia |
ORPHA:79263 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Craniosynostosis, Keratitis, Splenomeg... |
ORPHA:525731 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Cryptorchidism, Cholestasis, Perimembranous ventricular septal d... |
OMIM:608104 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Iris hypopigmentation |
ORPHA:79477 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic ste... |
OMIM:212138 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Optic atrophy, Decreased liver function, Diffuse hepatic steatosis, Hypertrophic ca... |
ORPHA:436271 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypotonia, Sparse bone trabeculae,... |
OMIM:600081 |
Siddiqi Syndrome |
|
Flexion contracture, Limb dystonia |
OMIM:618635 |
Leukodystrophy, Hypomyelinating, 2 |
|
Axial hypotonia, Dystonia, Rigidity, Head titubation, Choreoathetosis, Progressive spasticity, Sp... |
OMIM:608804 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Delayed CNS myelination, Rhizomelia, Seve... |
OMIM:215100 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cataract, Aggressive behavior, Periventricular heterotopia, Hypotonia, Self-injurious behavior, C... |
OMIM:619833 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Head tremor, Action tremor |
OMIM:604326 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Chronic gastritis, Liver abscess, Diabetes mellitus, Cholangitis, Psoriasiform d... |
ORPHA:183675 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Primary amenorrhea, Adrenogenital syndrome |
OMIM:202110 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular... |
ORPHA:420485 |
Propionic Acidemia |
|
Pancytopenia, Axial hypotonia, Thrombocytopenia, Neutropenia, Osteoporosis, Dystonia, Failure to ... |
OMIM:606054 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Achilles ... |
OMIM:302800 |
Gracile Syndrome |
|
Cholestasis, Cirrhosis, Elevated hepatic iron concentration, Intrauterine growth retardation, Hep... |
ORPHA:53693 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Paget disease of bone, Dystonia |
OMIM:167320 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi... |
ORPHA:415 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Bila... |
ORPHA:466722 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Aggressive behavior, Tremor, Dysphagia, Hypertonia, Dystonia, Action tremor |
OMIM:619738 |
Chiari Malformation Type Ii |
|
Hypotonia, Opisthotonus, Gray matter heterotopia, Generalized hypotonia, Dysphagia, Agenesis of c... |
OMIM:207950 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Elevated hepatic transaminase, Failure to thrive, Small for gestational... |
OMIM:613658 |
Vici Syndrome |
|
Death in infancy, Cataract, Joint stiffness, Hypotonia, Gray matter heterotopia, Agenesis of corp... |
ORPHA:1493 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczema... |
ORPHA:83471 |
Warburg Micro Syndrome 2 |
|
Cataract, Axial hypotonia, Small scrotum, Cryptorchidism, Flexion contracture, Hypotonia, Spastic... |
OMIM:614225 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism |
ORPHA:363741 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607831 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Tremor, Athetosis, Rigidity, Dystonia |
OMIM:213600 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Tremor, Precocious puberty, Hypotonia, Obesity, Agenesis of cor... |
OMIM:619312 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Axial hypotonia, Dystonia |
ORPHA:289504 |
Alagille Syndrome |
|
Keratoconus, Hepatomegaly, Ventricular septal defect, Corneal dystrophy, Cryptorchidism, Abnormal... |
ORPHA:52 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Limb hypertonia, Dystonia |
ORPHA:324588 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Small for gestational age, Nephrogenic diabetes insipidus, Hypotonia, Dystonia,... |
OMIM:620167 |
Birk-Landau-Perez Syndrome |
|
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Choreoathetosis, Appendicular hy... |
OMIM:617595 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Abnormal heart morpholog... |
ORPHA:91139 |
Leukodystrophy, Hypomyelinating, 20 |
|
Torticollis, Hypertonia, Spastic tetraplegia, Dystonia |
OMIM:619071 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hyperinsulinemic hypogly... |
OMIM:602579 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Axial hypotonia, Microcytic anemia, Choreoathetosis, Hypertonia, Hypochromic anemia, Dystonia, Sp... |
OMIM:618451 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Torticollis, Partial agenesis of the corpus callosum, Spastic tetraplegia, Spastic ... |
ORPHA:300570 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Dystonia, Dysphagia, Limb hypertonia |
OMIM:618247 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
Ataxia-Telangiectasia-Like Disorder |
|
Joint laxity, Hypergonadotropic hypogonadism, Generalized hypotonia, Dystonia, Intention tremor |
ORPHA:251347 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Dystonia, Episodic generalized hypotonia, Hypotonia, Arm dystonia, Dysphagia |
OMIM:601338 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Muscul... |
ORPHA:66634 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Dystonia, Dysphagia, Opisthotonus, Congenital contracture, Death in childhood |
OMIM:277470 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Severe postnatal growth... |
ORPHA:85410 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... |
OMIM:619525 |
Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Ventricular septal defect, Splenomegaly, Micronodular ci... |
OMIM:606003 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, ... |
ORPHA:3260 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... |
ORPHA:26793 |
Dystonia 9 |
|
Choreoathetosis, Spastic paraplegia, Dystonia |
OMIM:601042 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Cardiomyopathy, Left ventricular h... |
ORPHA:746 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica... |
OMIM:241530 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Gastrointestinal inflammation, I... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Gastrointestinal inflammation, I... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Gastrointestinal inflammation, I... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Gastrointestinal inflammation, I... |
ORPHA:881 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Dystonia, Impulsivity, Acanthocytosis, Rigidity, Fractures of the long bones, Leg dys... |
ORPHA:157850 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Thrombocytopenia, Hypotonia, Choreoathetosis, Neutropenia, Anemia |
ORPHA:289916 |
Developmental And Epileptic Encephalopathy 17 |
|
Athetosis, Dystonia |
OMIM:615473 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Cataract, Joint stiffness, Tremor, Hypotonia, Choreoathetosis, Dystonia,... |
OMIM:617988 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Agenesis of corpus callosum, Infantile muscular hypotonia, Intention tremor |
ORPHA:453521 |
Abetalipoproteinemia |
|
CNS demyelination, Peripheral demyelination |
OMIM:200100 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Dysphagia, Focal dystonia, Attention deficit hyperactivity disorder... |
ORPHA:52368 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Smith-Lemli-Opitz Syndrome |
|
Partial agenesis of the corpus callosum, Hypocholesterolemia, Atrial septal defect, Hepatic steat... |
OMIM:270400 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Atrial... |
OMIM:619991 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Tremor, Hypertonia, Generaliz... |
ORPHA:352649 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating growth hormone conce... |
ORPHA:97287 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Lateral ventricle dilatatio... |
OMIM:256850 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Rigidity, Truncal titubation, Dysphagia, Opisthotonus, Cogwheel rigidity, Hypert... |
OMIM:607483 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Thyroiditis, Rickets, Weight loss, Iron deficiency anemia, Infer... |
OMIM:212750 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Neonatal hypotonia, Spasticity, Flexion contracture, Dystonia |
OMIM:252011 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Transient hyperlipidemia, Hypertrophic cardiomyopath... |
ORPHA:156 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Impaired oropharyng... |
ORPHA:53351 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Short stature, Dysplastic corpus callosum, CNS hypomyelination, Arth... |
OMIM:619423 |
Perry Syndrome |
|
Tremor, Rigidity, Weight loss, Inappropriate behavior, Disinhibition, Dystonia |
OMIM:168605 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Axial hypotonia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia |
OMIM:615905 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Autosomal Spastic Paraplegia Type 58 |
|
Short stature, Peripheral demyelination |
ORPHA:397946 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Astigmatism, Attention deficit h... |
OMIM:619680 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Hypotonia, Bruxism, Self-injurious behavior, Dystonia, Abnormal repetitive m... |
OMIM:618004 |
Kufor-Rakeb Syndrome |
|
Torticollis, Aggressive behavior, Tremor, Rigidity, Spastic paraplegia, Dysphagia, Hypertonia, Dy... |
OMIM:606693 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:614702 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dysphagia, Spastic dysarthria, Dystonia, Spastic paraparesis, Spasticity |
ORPHA:313772 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Co... |
ORPHA:96181 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis, Spasticity, Dysphagia, Dystonia |
OMIM:607236 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Cryptorchidism, Elbow flexi... |
OMIM:618440 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diab... |
OMIM:151660 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Pancytopenia, Dystonia, Abnormally low T cell receptor excision circle level, Spasticity |
OMIM:617341 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Abnormality iris morphology, Gray matter heterotopia, Megalocornea, Polymicrogyria, Age... |
ORPHA:370959 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dysphagia, Dystonia |
OMIM:618317 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Cogwheel rigidity, Attention deficit hyperactivity disorder, Dystonia, Abnormal r... |
OMIM:619725 |
1P36 Deletion Syndrome |
|
Cataract, Abnormal heart valve morphology, Camptodactyly of finger, Short stature, Joint stiffnes... |
ORPHA:1606 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Elbow flexion contracture, Hypotonia, Focal dystonia, Spastic dysarthria, Develo... |
ORPHA:447757 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Axial hypotonia, Spastic tetraparesis, Impulsivity, Flexion contracture, Progressi... |
ORPHA:35069 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Failure to thr... |
ORPHA:90103 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Torticollis, Head titubation, Hypotonia, Limb dystonia, Spasticity |
OMIM:617560 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Choreoathetosis, Spastic paraplegia, Dystonia |
ORPHA:53583 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:614739 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Lower limb spasticity, Spastic paraplegia, Spastic tetraparesis, Dystonia |
OMIM:612319 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... |
ORPHA:97278 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Ventricular septal defect, Enterocolitis, Hypoplasia of the thymus, Inte... |
OMIM:243150 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Dystonia, Bone-marrow foam cells, Splenomegaly, Hypotonia, Dysphagia, Sea-blue ... |
OMIM:607625 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Rigidity, Increased skull ossification, Craniofacial osteosclerosis,... |
OMIM:618476 |
Miller-Dieker Lissencephaly Syndrome |
|
Failure to thrive, Cataract, Pachygyria, Cryptorchidism, Gray matter heterotopia, Lissencephaly, ... |
OMIM:247200 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Axial hypotonia, Hypotonia, Gray matter heterotopia, Generalized hypotonia, Neonatal death, Poste... |
OMIM:614887 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Axial hypotonia, Aggressive behavior, Hypotonia, Hypertonia, Attention deficit hyperactivity diso... |
OMIM:300352 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Hypersplenism, Sple... |
ORPHA:3261 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Cataract, Dysphagia, Generalized dystonia |
ORPHA:79107 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Delayed CNS myelination, Splenomegaly, Flexion contracture, Optic atrophy, Recurren... |
OMIM:617303 |
Leukodystrophy, Hypomyelinating, 25 |
|
Hypotonia, Dystonia |
OMIM:620243 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Cor pulmonale, Bronchiectasis, Recurrent pneumo... |
OMIM:300755 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Cataract, Axial hypotonia, Limb joint contracture, Tremor, Cryptorc... |
OMIM:620327 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Head tremor, Dystonia |
OMIM:619724 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypotonia, Sparse bone trabeculae,... |
OMIM:264700 |
Man1B1-Cdg |
|
Resting tremor, Periventricular heterotopia, Truncal obesity, Infantile muscular hypotonia, Polyp... |
ORPHA:397941 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Spasticity, Male sexual dysfunction, Agitation, Dys... |
ORPHA:2828 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Dystonia, Dysphagia, Spastic paraparesis |
OMIM:614487 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Joint stiffness, Hypotonia, Choreoathetosis, Dystonia, Sp... |
ORPHA:702 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Spastic tetraparesis, Hypotonia, Spastic diplegia, Dysphagia, Choreoathetosis, Dyst... |
ORPHA:391428 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Abnormality of neuronal migration, Self-injurious behavi... |
ORPHA:261236 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Streak ovary, Premature ovarian insuffici... |
ORPHA:3464 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Hypotonia, Dystonia, Failure to thrive |
OMIM:616977 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cataract, Hypospadias, Small for gestational age, Neutropenia, Hypotonia, Dysphagia, Choreoatheto... |
OMIM:615471 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypotonia, Sparse bone trabeculae,... |
OMIM:277440 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Hypospadias, Wide anterior fontanel, Subcortical band heterotopia, Hypo... |
OMIM:601390 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Spastic paraplegia, Flexion contracture, Failure to thrive in infancy |
OMIM:619026 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Death in infancy, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Trem... |
OMIM:615512 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Aggressive behavior, Tremor, Dysphagia, Compulsive behaviors, Dystonia, Spastic p... |
OMIM:615157 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheil... |
ORPHA:2331 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insulin-dependent di... |
ORPHA:1667 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Tremor, Hypergonadotropic hypogonadism, Dystonia |
OMIM:617145 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Cataract, Tremor, Neutropenia, Hypotonia, Dysphagia, Hypertonia, Generalized hy... |
OMIM:617248 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Tremor, Rigidity, Head titubation, Hypotonia, Choreoathetosis, Hypertonia, Dystonia, Spasticity, ... |
OMIM:618877 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Delayed CNS myelination, Cataract, Short stature, Splenomegaly, Jaundice, Growth de... |
OMIM:608885 |
Alagille Syndrome 1 |
|
Microcornea, Papillary thyroid carcinoma, Atrial septal defect, Abnormal anterior chamber morphol... |
OMIM:118450 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of th... |
ORPHA:77297 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Congenital malformation of the... |
ORPHA:3455 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Small for gestational age, Ventricular sep... |
ORPHA:860 |
Wagro Syndrome |
|
Decreased testicular size, Cataract, Corneal opacity, Aggressive behavior, Obesity, Agitation, Co... |
OMIM:612469 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... |
ORPHA:263455 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... |
ORPHA:97282 |
Leigh Syndrome |
|
Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:256000 |
Fucosidosis |
|
Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive, H... |
ORPHA:349 |
Kaya-Barakat-Masson Syndrome |
|
Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Spasticity |
OMIM:619125 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Decreased liver function, Increased int... |
OMIM:220110 |
Bloom Syndrome |
|
Small for gestational age, Decreased fertility in females, Postnatal growth retardation, Cryptorc... |
OMIM:210900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Liang-Wang Syndrome |
|
Megalocornea, Axial hypotonia, Dystonia |
OMIM:618729 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Hypotonia, Microcornea, Iris transillumination defect, ... |
OMIM:617306 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Coffin-Lowry Syndrome |
|
Death in early adulthood, Craniofacial hyperostosis, Cataract, Hypotonia, Abnormality of neuronal... |
ORPHA:192 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia |
OMIM:616398 |
Spinocerebellar Ataxia Type 6 |
|
Dystonia, Dysphagia, Blepharospasm, Choking episodes, Intention tremor |
ORPHA:98758 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Impulsivity, Tremor, Neuromuscular dysphagia, Blepharospasm, Dystonia, Progressiv... |
ORPHA:240071 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Spasticity, Dystonia |
OMIM:610246 |
Leukodystrophy, Hypomyelinating, 9 |
|
Lower limb spasticity, Axial hypotonia, Pseudobulbar paralysis, Dystonia, Intention tremor |
OMIM:616140 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Increased muscle glycogen content, Growth delay, Incre... |
OMIM:261750 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Head tremor, Craniofaci... |
ORPHA:420492 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Hypospadias, Camptodactyly of finger, Craniosynostosis, Ankle flexio... |
ORPHA:468631 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Short stature, Delayed peripheral myelination, Supernumerary nipple, M... |
OMIM:605039 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Hypotonia, Decreased body weight, Pachygyria, Agenesis of corpus cal... |
ORPHA:255138 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Axial hypotonia, Advanced ossification of carpal bones, Limb dystonia |
OMIM:620269 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Dysphagia, Choreoathetosis, Head tremor, Dystonia, Hypercholesterolemia |
ORPHA:64753 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Postural tremor, Progressive flexion contractures, Rigidity, F... |
ORPHA:98808 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hypertro... |
OMIM:611126 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Failure... |
ORPHA:209905 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Cataract, Osteomyelitis, Abnormal spinal cord morphology, Axonal degeneration, Camptodactyly, Abn... |
ORPHA:88628 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Peripheral axonal neuropathy, Very long chain fatty acid accumulation, Decreased circulating cort... |
ORPHA:139396 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Spastic tetraparesis, Dystonia |
ORPHA:404451 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Tremor, Dysphagia, Dystonia, Spasticity, Intention tremor |
OMIM:614381 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Hypercholesterolemia, Axonal degeneration, Decreased number of la... |
OMIM:208920 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Splenomegaly, Thyroiditis, Uveitis, Growth delay, Keratoconjunctivitis sicca, Punct... |
OMIM:617388 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Lower limb hypertonia, Pseudobulbar paralysis, Dystonia, Infantile axial h... |
ORPHA:438114 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular n... |
ORPHA:249 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Optic atrophy, Abnormal spinal cord morphology, Flexion contracture, Sensory axonal neuropathy |
ORPHA:99947 |
Pyruvate Dehydrogenase Deficiency |
|
Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Hypotonia, Choreoathetosis, Dyst... |
ORPHA:765 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Generalized hypotonia, Periventricular heterotopia |
OMIM:618273 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Leg dystonia, Dysphagia, Focal dystonia, Blepharospasm, Arm dysto... |
ORPHA:157846 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism, Osteolysis |
ORPHA:494 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Small for gestational age, Microcytic anemia, Hypotonia, Athetosis, Dystonia, Spasticity, Failure... |
OMIM:612073 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Rigidity, Hand tremor, Dysphagia, Dystonia, Spastic paraparesis, Spasticity |
ORPHA:289560 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... |
ORPHA:100085 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypertonia, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:614654 |
Thanatophoric Dysplasia Type 2 |
|
Joint hyperflexibility, Limitation of joint mobility, Hypotonia, Abnormality of neuronal migration |
ORPHA:93274 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Abnormal cortical gyration... |
ORPHA:521426 |
Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Bruxism, Simplified gyral pattern, Athetosis, Generalized hypotonia, Dystonia, ... |
OMIM:613454 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Increased bone mineral density, Optic disc pallor, Recurrent fractures, Facial pals... |
OMIM:611490 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Cataract, Corneal opacity, Short stature, Joint stiffness, Splenomegaly, Optic atrophy |
ORPHA:585 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Large for gestational age, Seborrheic dermatitis, Microvesicular h... |
OMIM:300868 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Cryptorchidism, Wide anterior fontanel, Poorly ossified vertebrae, Epiphyseal s... |
OMIM:619135 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Progressive spastic quadriplegia, I... |
ORPHA:309246 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Cataract, Axial hypotonia, Generalized dystonia, Aggressive behavior, Spastic tetra... |
OMIM:618321 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Very long chain fatty acid accumulation, Cerebral dysmyelination,... |
ORPHA:139399 |
Alg11-Cdg |
|
Axial hypotonia, Opisthotonus, Gray matter heterotopia, Hypertonia, Infantile muscular hypotonia,... |
ORPHA:280071 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetraplegia, Hypochromic microcyt... |
ORPHA:3240 |
Niemann-Pick Disease, Type C1 |
|
Dystonia, Bone-marrow foam cells, Splenomegaly, Hypotonia, Generalized hypotonia, Dysphagia, Sea-... |
OMIM:257220 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho... |
OMIM:617156 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Microvesic... |
OMIM:203700 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Foot joint contracture, Postnatal growth r... |
ORPHA:90321 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Abnormal circulating enzyme conce... |
ORPHA:348 |
Proximal Myopathy With Extrapyramidal Signs |
|
Progressive extrapyramidal muscular rigidity, Resting tremor, Insulin-resistant diabetes mellitus... |
ORPHA:401768 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Astigmatism, Left vent... |
OMIM:617713 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Tremor, Rigidity, Dystonia, Spastic paraparesis |
OMIM:300894 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dystonia |
ORPHA:254881 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, Titubation, Athetosis, Head tremor, Dystonia, S... |
ORPHA:280219 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis |
OMIM:614116 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Facial hypotonia, Hypotonia, Dystonia, Spasticity, Abnormal repetitive mannerisms |
OMIM:617807 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Writer's cramp, Rigidity, Blepharospasm, Dystonia, Spasticity |
ORPHA:98759 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Osteomalacia, Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Ri... |
OMIM:309000 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Head titubation, Dystonia, Generalized hypotonia, Progressive spasticity |
ORPHA:527497 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Abnormal spinal cord morphology, Sensory axonal neuropathy |
ORPHA:139578 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Hypotonia, Generalized hypotonia |
OMIM:615960 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy... |
OMIM:616113 |
Chromosome 18P Deletion Syndrome |
|
Small for gestational age, Cryptorchidism, Hypotonia, Gonadal dysgenesis, Dystonia, Micropenis, D... |
OMIM:146390 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Hypospadias, Dysplastic corpus callosum, Absence of pubertal development, Self-injuri... |
ORPHA:314679 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Generalized hypotonia, Dystonia |
OMIM:618416 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hyperactivity, Cataract, Small for gestational age, Impulsivity, Cryptorchidism... |
OMIM:610443 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic atrop... |
ORPHA:254930 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Neuromuscular dysphagia, Female anorga... |
ORPHA:227510 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaund... |
OMIM:603553 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Osteopenia, Joint laxity, Hypospadias, Periventricular nodular heterotopia, Crypto... |
OMIM:615546 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Type I d... |
ORPHA:436252 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Dysphagia, Generalized hypotonia, Dystonia |
ORPHA:98755 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cataract, Hypotonia, Gray matter heterotopia, Tracheomalacia, Spasticity |
OMIM:618797 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
Spinocerebellar Ataxia 21 |
|
Postural tremor, Impulsivity, Aggressive behavior, Cogwheel rigidity, Dystonia, Intention tremor |
OMIM:607454 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Hengel-Maroofian-Schols Syndrome |
|
Spasticity, Foot joint contracture, Hypotonia, Dystonia |
OMIM:619641 |
Alkuraya-Kucinskas Syndrome |
|
Cataract, Small scrotum, Gray matter heterotopia, Lissencephaly, Generalized hypotonia, Camptodac... |
OMIM:617822 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hyperlipidemia, Delayed puberty, Oste... |
OMIM:232200 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Mitral valve calci... |
OMIM:619127 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Appendicular hypotonia, Dystonia, Hypotonia, Intention tremor |
OMIM:616127 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Axial hypotonia, Dystonia, Partial agenesis of the corpus callosum, Dysphagia, Spasticity, Agenes... |
ORPHA:500144 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Dystonia |
ORPHA:459033 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Short stature, Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogen... |
OMIM:202010 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteoarthr... |
ORPHA:77259 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Simplified gyral pattern, Hypotonia, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenes... |
OMIM:615219 |
Folinic Acid-Responsive Seizures |
|
Hypertonia, Spastic tetraparesis, Dystonia |
ORPHA:79097 |
Vici Syndrome |
|
Lymphopenia, Failure to thrive, Cataract, Ocular albinism, Hypotonia, Neutropenia, Developmental ... |
OMIM:242840 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... |
ORPHA:100080 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hypersplenism,... |
ORPHA:231214 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Dilated cardiomyopathy... |
ORPHA:20 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Small for gestational age, Shor... |
OMIM:260400 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Osteomyelitis, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
Blepharonasofacial Malformation Syndrome |
|
Cryptorchidism, Torsion dystonia, Joint hyperflexibility |
ORPHA:1252 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, ... |
OMIM:608643 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Hy... |
OMIM:232220 |
Spinocerebellar Ataxia Type 8 |
|
Rigidity, Dysphagia, Spastic dysarthria, Impotence, Dystonia, Spasticity |
ORPHA:98760 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Rickets, Osteolysis, Hepatitis, Cholestasis, Jo... |
ORPHA:198 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Failure to thrive, Diabetes mellitus, Female hypogonadism, Tremor, C... |
OMIM:208900 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Ectopic posterior pituitary, Flexion contracture, Perisylvian predominant ... |
ORPHA:98889 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Splenome... |
OMIM:619381 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Joint hyperflexibility, Hypotonia, Joint stiffness |
ORPHA:2655 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Severe muscular hypotonia, Agyria, Cryptorchidism, Hypotonia, Buphthal... |
OMIM:236670 |
Joubert Syndrome |
|
Tremor, Polymicrogyria, Hypotonia, Abnormality of neuronal migration, Abnormality of the hypothal... |
ORPHA:475 |
Galloway-Mowat Syndrome 1 |
|
Axial hypotonia, Cataract, Small for gestational age, Pachygyria, Spastic tetraplegia, Hypotonia,... |
OMIM:251300 |
3C Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Hypotonia, Abnormality of... |
ORPHA:7 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, F... |
ORPHA:261197 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive |
OMIM:210200 |
Glucagonoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97280 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter... |
ORPHA:93284 |
Digeorge Syndrome |
|
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... |
OMIM:188400 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Type II ... |
OMIM:616860 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Axial hypotonia, Astigmatism, Generalized hypotonia, Dystonia, Laryngotracheomalacia, Limb hypert... |
OMIM:616875 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis |
OMIM:308240 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Joint stiffness, Cryptorchidism, Dysplastic corpus callosum, Uterus di... |
OMIM:618820 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Rigidity, Dysphagia, Secondary amenorrhea, Dystonia, Intention tremor |
OMIM:258450 |
Peho Syndrome |
|
Optic atrophy, Peripheral dysmyelination |
OMIM:260565 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Blepharospasm, Dysphagia |
ORPHA:683 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Dystonia, Hypospadias, Small for gestational age, Failure to thrive in infancy, Flexion contractu... |
OMIM:618891 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Obesity, Dystonia |
OMIM:616267 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis |
ORPHA:319251 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Leukoencephalopathy With Calcifications And Cysts |
|
Tremor, Spasticity, Dystonia |
ORPHA:542310 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Cryptorchidism, Craniosynostosis |
ORPHA:531151 |
East Syndrome |
|
Peripheral axonal neuropathy, Hyperaldosteronism, Peripheral hypomyelination, Increased circulati... |
ORPHA:199343 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Female anorgasmia, Autonomic erectile ... |
ORPHA:102 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration, Epispadias, Ab... |
ORPHA:2211 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Corneal opacity, Hypospadias, Ankle flexion contracture, Small for gestational... |
ORPHA:464311 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Generalized hypotonia, Polymicrogyria, Thr... |
OMIM:617397 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Splenomegaly, Low alkaline phosphatase, Hypogonadism, Decreased seru... |
OMIM:201100 |
Leigh Syndrome |
|
Cataract, Dystonia, Multiple joint contractures, Neutropenia, Spastic diplegia, Dysphagia, Choreo... |
ORPHA:506 |
Leptospirosis |
|
Hepatomegaly, Papilledema, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis,... |
ORPHA:509 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Hypotonia |
OMIM:617622 |
Wieacker-Wolff Syndrome |
|
Hypotonia, Congenital foot contractures, Generalized hypotonia, Dystonia, Arthrogryposis multiple... |
OMIM:314580 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract, Hypotonia |
ORPHA:1069 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618974 |
Filippi Syndrome |
|
Supernumerary nipple, Cryptorchidism, Limitation of joint mobility, Hypotonia, Limb dystonia, Spa... |
ORPHA:3255 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Skin rash, Pustule, Spleno... |
OMIM:612852 |
Developmental And Epileptic Encephalopathy 89 |
|
Axial hypotonia, Hypoplastic labia minora, Flexion contracture, Hypoplastic labia majora, Death i... |
OMIM:619124 |
Rett Syndrome |
|
Infantile muscular hypotonia, Agitation, Increased serum leptin, Dystonia, Failure to thrive, Abn... |
ORPHA:778 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone stru... |
ORPHA:93160 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Extrapyramidal muscular rigidity, Tremor, Rigidity, Focal dystonia, Blepharospasm, Inappropriate ... |
ORPHA:99750 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Head titubation, Dysphagia, Knee flexion contracture, Rectovaginal fistula, Dystonia, Lymphopenia... |
OMIM:619708 |
6Q Terminal Deletion Syndrome |
|
Joint laxity, Hypospadias, Phimosis, Periventricular heterotopia, Obesity, Abnormality of neurona... |
ORPHA:75857 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Dystonia, Neonatal hypotonia, Failure to thrive |
ORPHA:431361 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal pupil morphology, Lentiglobus, Compulsive behaviors, Abnormal repet... |
ORPHA:534 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Cryptorchidism, Colpocephaly, Astigmatism, Increased mean corpuscula... |
ORPHA:261250 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Female anorgasmia, Autonomic erectile ... |
ORPHA:98933 |
Huntington Disease-Like 3 |
|
Spasticity, Extrapyramidal muscular rigidity, Flexion contracture, Dystonia |
ORPHA:157946 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Anisocoria, Facial paralys... |
ORPHA:99949 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Aggressive behavior, Tremor, Thrombocytopenia, Spastic tetraplegia, Dysphagia, Athetosis, Lateral... |
ORPHA:572798 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Doors Syndrome |
|
Adrenal hyperplasia, Cataract, Sagittal craniosynostosis, Optic atrophy, Congenital hypothyroidis... |
ORPHA:79500 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, Joint hypermobility, Aggressive behavior, Hypotonia, Phonic tics, Congenital hypot... |
OMIM:616973 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Neonatal hypotonia, Hypothyroidism, Failure to thrive in infancy, Dystonia |
OMIM:618829 |
Rett Syndrome |
|
Dystonia, Cachexia, Bruxism, Spasticity, Stereotypical hand wringing |
OMIM:312750 |
Lathosterolosis |
|
Hepatomegaly, Cataract, Intrahepatic cholestasis, Microcornea, Opacification of the corneal strom... |
ORPHA:46059 |
Huntington Disease-Like 3 |
|
Spasticity, Flexion contracture, Dystonia |
OMIM:604802 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Flexion contracture, Elevated circulating thyroid-stimulating hormone concentration... |
OMIM:256040 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... |
ORPHA:100082 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Appendicular spasticity, Joint contracture, Axial hypotonia, Dystonia |
OMIM:617762 |
Developmental And Epileptic Encephalopathy 29 |
|
Axial hypotonia, Blepharospasm, Limb dystonia, Spasticity, Failure to thrive |
OMIM:616339 |
Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis, Cataract |
OMIM:273395 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Aggressive behavior, Imp... |
ORPHA:2131 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Tremor, Cryptorchidism, Hypotonia, Lateral ventricle dilatation, Distal arthrog... |
OMIM:617557 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Large for gestatio... |
OMIM:616026 |
Corticobasal Syndrome |
|
Tremor, Dystonia, Progressive extrapyramidal muscular rigidity, Limb dystonia |
ORPHA:454887 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Dystonia, Axial hypotonia, Spasticity, Limb hypertonia |
OMIM:618087 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Precocious puberty, Dysphagia, Hepatosplenomegaly... |
ORPHA:845 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Lymphadenitis, Dilated cardiom... |
OMIM:615895 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Hypotonia, Gray matter heterotopia, Dysphagia, Polymicro... |
OMIM:619775 |
Developmental And Epileptic Encephalopathy 51 |
|
Failure to thrive, Hypotonia, Supernumerary nipple, Dystonia |
OMIM:617339 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Hypospadias, Cryptorchidism, Wide anterior fontanel, Partial agenesi... |
OMIM:305450 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Rigidity, Resting tremor, Postural tremor, Dystonia |
OMIM:619911 |
Familial Paroxysmal Ataxia |
|
Torticollis, Dystonia |
ORPHA:97 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder |
ORPHA:1929 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... |
OMIM:557000 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Infantile axial hypotonia, Dysphagia, Titubation, Infantile muscular hy... |
ORPHA:225147 |
Ataxia With Vitamin E Deficiency |
|
Tremor, Diabetes mellitus, Hypertonia, Dystonia |
ORPHA:96 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... |
ORPHA:157215 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Pachygyria, Hyperlipidemia, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus... |
ORPHA:157 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Ectopic posterior pituitary, Cataract, Cryptorchidism, Hypotonia, Microcornea, Gene... |
OMIM:610125 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Hypotonia, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Keratoconjunctivitis si... |
ORPHA:309031 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm |
OMIM:606324 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Failure to thrive, Hypospadias, Cryptorchidism, Hypotonia, Colpocephaly... |
OMIM:620083 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... |
OMIM:613388 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... |
ORPHA:93111 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Periventricular heterotopia, Hypotonia, Finger joint hypermobility, Attention defic... |
OMIM:618870 |
Choreoacanthocytosis |
|
Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Self-mutilation of tongue an... |
ORPHA:2388 |
Lysinuric Protein Intolerance |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Increased circulating... |
ORPHA:470 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Galloway-Mowat Syndrome |
|
Camptodactyly of finger, Hypotonia, Abnormality of neuronal migration, Hypertonia, Pachygyria |
ORPHA:2065 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Ventricular septal defect, Intrauterine growth retardation |
OMIM:611812 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Dysphagia, Limb hypertonia |
OMIM:619909 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Generalized dystonia, Dystonia, Spastic tetraparesis, Dysphagia, Failure to thrive, Anemia |
OMIM:620358 |
Aicardi-Goutieres Syndrome 1 |
|
Axial hypotonia, Diabetes insipidus, Splenomegaly, Dystonia, Spasticity, Hypothyroidism, Self-mut... |
OMIM:225750 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia |
ORPHA:89937 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Postna... |
OMIM:227810 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal hypotonia, Cryptorchidism, Craniosynostosis, Dystonia |
ORPHA:457193 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F... |
OMIM:619503 |
Spinocerebellar Ataxia Type 3 |
|
Dystonia |
ORPHA:98757 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Intrauterine growth retardation, Astigmatism, Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Recurrent pneumonia, Cor pulmonale, Biliary cirrhosis, Bronchiect... |
OMIM:219700 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce... |
OMIM:605479 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Cryptorchidism, Abnormality of neuronal migration |
ORPHA:2063 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Failure to thrive, Hepatic stea... |
OMIM:229600 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Impulsivity, Rigidity, Weight loss, Agitation, Dysphagia |
ORPHA:411602 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Cataract, Developmental glaucoma, Optic atrophy, Buphthalmos, Myelin outfoldings |
ORPHA:99956 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Peripheral demyelination |
ORPHA:171629 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Increased ... |
ORPHA:100075 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Dystonia, Prominent crus of helix, Hypotonia, Stereotypical hand wringing, Bruxism, Joint hypermo... |
OMIM:617804 |
Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Dystonia |
OMIM:105300 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Diabetes mellitus, Tremor, Rigidity, Abnormal pancreas morphology... |
ORPHA:48818 |
Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Spl... |
OMIM:219800 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Adrenal glan... |
OMIM:236680 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypertriglyceridemia, Abn... |
ORPHA:77293 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hypotonia, Hypertonia, Gener... |
OMIM:272750 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Inflammat... |
ORPHA:565612 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Recurrent hand flapping, Agitation, Bruxism, Dystonia |
OMIM:617903 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Osteomyelitis, Failure to thrive, Decrea... |
ORPHA:811 |
Orofaciodigital Syndrome Type 6 |
|
Bilateral cryptorchidism, Tremor, Hypotonia, Abnormality of neuronal migration, Generalized hypot... |
ORPHA:2754 |
Developmental And Epileptic Encephalopathy 84 |
|
Axial hypotonia, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity |
OMIM:618792 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Decreased response to growth hormone stimulation test, Craniosynostosis, Oral-p... |
ORPHA:506358 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Cataract, Rickets, Recurrent fractures |
OMIM:268315 |
Charcot-Marie-Tooth Disease Type 1F |
|
Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas... |
ORPHA:101085 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocell... |
OMIM:618278 |
Slc39A8-Cdg |
|
Osteopenia, Severe muscular hypotonia, Failure to thrive in infancy, Craniosynostosis, Elbow flex... |
ORPHA:468699 |
African Trypanosomiasis |
|
Conjunctivitis, Iritis, Hepatomegaly, Papilledema, Abnormality of the endocrine system, Hepatospl... |
ORPHA:3385 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Cryptorchidism, Hypotonia, Gray matter heterotopia, Bruxism, Failur... |
ORPHA:453499 |
Joubert Syndrome With Oculorenal Defect |
|
Hypotonia, Abnormality of the hypothalamus-pituitary axis, Iris coloboma, Abnormality of neuronal... |
ORPHA:2318 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Optic nerve hypoplasia, Flexion contracture, Optic atrophy, Abdominal obesity, Hyp... |
OMIM:619321 |
Holoprosencephaly |
|
Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, Cryptorchidism, Anterior hy... |
ORPHA:2162 |
Hypermanganesemia With Dystonia 1 |
|
Tremor, Rigidity, Dystonia, Spastic paraparesis, Polycythemia |
OMIM:613280 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Tremor, Rigidity, Dysphagia |
OMIM:168600 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... |
ORPHA:90062 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Hypertonia, Abnormality of neuronal migration |
ORPHA:2518 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Upper limb postural tremor, Aggressive behavior, Tremor, Rigidity... |
OMIM:612953 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Dysphagia, Dystonia |
OMIM:618868 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Death in infancy, Acanthocytosis, Flexion contracture, Elbow flexion contractu... |
OMIM:618947 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Painless fractures due to injury, Osteolytic defects of the phalanges of the hand, Decreased numb... |
OMIM:201300 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Recurrent fractures, Joint stiffness, Ecto... |
ORPHA:394 |
Machado-Joseph Disease |
|
Rigidity, Spasticity, Dysphagia, Dystonia |
OMIM:109150 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal de... |
OMIM:619534 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Gray matter heterotopia, Hypotonia |
OMIM:187600 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Japanese Encephalitis |
|
Neutrophilia, Stiff neck, Anorexia, Tremor, Elbow flexion contracture, Cogwheel rigidity, Choreoa... |
ORPHA:79139 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Severe muscular hypotonia, Tremor, Rigidity, Dysphagia, Athetosis, Limb dystonia |
ORPHA:25 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Rigidity, Cogwheel rigidity, Dysphagia, Tremor by anatomical site |
ORPHA:97349 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Stiff neck, Sinusitis, Facial palsy, Pneumonia, Pustule, Abnormal spinal cor... |
ORPHA:68 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Fractures of the long bones, Dysphagia, Progressive spasticity, Dystonia, Arthrogryposis multiple... |
ORPHA:496641 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypop... |
OMIM:206900 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Wide anterior fontanel, Hypotonia, Joint stiffness |
ORPHA:1860 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Hypermyelinat... |
OMIM:270550 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Short stature, Hyperaldosteronism, Peripheral hypomyelination, Increased circulating renin level,... |
OMIM:612780 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic... |
ORPHA:137675 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Rickets, Elevated circulating parathyroid hormone level, Hypophosph... |
OMIM:307800 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Small for gestational age, Reduced level of N-acetylglucosaminyltransferase II, Mil... |
OMIM:224120 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega... |
OMIM:276700 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Facial palsy, Cachexia, Splenomegaly, Craniofacial osteosclerosis, Limitation of jo... |
ORPHA:1328 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Corneal opacity, Rigidity, Bone cyst, Abnormal cartilage morphology, O... |
ORPHA:2396 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Tremor, Precocious puberty, Pachygyria, Micropenis, Choreoathetosis, Self-injuriou... |
ORPHA:1934 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypotonia, Gray matter heterotopia, Obesity, Generalized hypotonia |
OMIM:608624 |
Dent Disease |
|
Cataract, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypotonia,... |
ORPHA:1652 |
Fucosidosis |
|
Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Hypotonia, Spastic tetraplegia, Tortuo... |
OMIM:230000 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Cataract, Reduced circulating aldolase concentration, Jaundice, Growth delay, Chron... |
ORPHA:469 |
Hermansky-Pudlak Syndrome 10 |
|
Axial hypotonia, Dystonia, Splenomegaly, Ocular albinism, Generalized hypotonia, Neutropenia |
OMIM:617050 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Syndromic Diarrhea |
|
Hepatomegaly, Atrial septal defect, Small for gestational age, Bicuspid aortic valve, Ventricular... |
ORPHA:84064 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Right atrial enlarge... |
ORPHA:555874 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thr... |
OMIM:615947 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Impulsivity, Tremor, Dystonia, Oromandibular dystonia, Spasticity |
OMIM:614298 |
Progeroid Short Stature With Pigmented Nevi |
|
Diabetes mellitus, Cataract, Small for gestational age, Bicuspid aortic valve, Allergic rhinitis,... |
OMIM:176690 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Premature thelarche, Oral-pharyngeal dysphagia, Spastic tetraplegia, Spastic diplegia, Generalize... |
OMIM:616878 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Rickets, Abnormal cornea morphology, Corneal crystals, Polydip... |
ORPHA:411629 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Abnormality of neuronal migration |
ORPHA:2481 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Corneal opacity, Delayed peripheral myelination |
ORPHA:364577 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb dystonia, Self-injurious behavior, Infantile muscular hypotonia, Neonatal hypotonia, Spastic... |
ORPHA:457351 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Flexion contracture, Partial agenesis of the corpus callosum, Mi... |
OMIM:210710 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Lower limb spasticity, Axial hypotonia, Dystonia, Joint hypermobility, Impulsivity, Precocious pu... |
OMIM:619950 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Osteolysis, Corneal scarring, Co... |
OMIM:263700 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Choreoathetosis, Lower limb spasticity, Hypotonia, Dystonia |
OMIM:604391 |
Periventricular Nodular Heterotopia |
|
Joint hypermobility, Periventricular heterotopia |
ORPHA:98892 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysphagia, Hypertonia, Dystonia, Spasticity, Intention tremor |
OMIM:610217 |
Joubert Syndrome With Hepatic Defect |
|
Tremor, Splenomegaly, Hypotonia, Abnormality of neuronal migration, Abnormality of the hypothalam... |
ORPHA:1454 |
Lipoid Proteinosis |
|
Dysphagia, Dystonia |
ORPHA:530 |
Aicardi Syndrome |
|
Cataract, Block vertebrae, Precocious puberty, Partial agenesis of the corpus callosum, Hypotonia... |
OMIM:304050 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Anorexia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Compulsive behav... |
ORPHA:3008 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Alzheimer Disease 3 |
|
Dysphagia, Spastic tetraparesis, Dystonia |
OMIM:607822 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Tremor, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Dyston... |
OMIM:612199 |
Legius Syndrome |
|
Hyperactivity, Cataract, Acute monocytic leukemia, Hypotonia, Ovarian neoplasm, Lisch nodules, Xa... |
ORPHA:137605 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Wide anterior fontanel, Hypotonia, Dysphagia |
ORPHA:26791 |
Friedreich Ataxia |
|
Diabetes mellitus, Dysphagia, Dystonia, Spasticity, Impaired visually enhanced vestibulo-ocular r... |
ORPHA:95 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Generalized hypotonia, Dystonia,... |
OMIM:300966 |
Atypical Juvenile Parkinsonism |
|
Rigidity, Resting tremor, Dystonia |
ORPHA:391411 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites |
OMIM:215600 |
Posttransplant Acute Limbic Encephalitis |
|
Dystonia |
ORPHA:163921 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Abnormality of the liver, Infectious encephalitis, Hepatomega... |
ORPHA:1304 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Peripheral hypomyelination, Agenesis of corp... |
OMIM:618733 |
Adult-Onset Dystonia-Parkinsonism |
|
Tremor, Rigidity, Dysphagia, Focal dystonia, Stiff hip, Dystonia, Spasticity |
ORPHA:199351 |
Arima Syndrome |
|
Hepatomegaly, Optic atrophy, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
OMIM:243910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Severe muscular hypotonia, Hypotonia, Micropenis, Gray matter heterotopia, Opacification of the c... |
OMIM:615287 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Axial hypotonia, Generalized dystonia, Achilles tendon contracture, Opisthotonus, Knee flexion co... |
OMIM:618076 |
Refsum Disease |
|
Splenomegaly, Cataract, Cardiomyopathy |
ORPHA:773 |
Dystonia-Aphonia Syndrome |
|
Oromandibular dystonia, Generalized dystonia, Abnormal mitochondrial shape, Dysphagia |
ORPHA:412217 |
Parkinsonian-Pyramidal Syndrome |
|
Rigidity, Dysphagia, Dystonia, Spasticity, Intention tremor |
ORPHA:171695 |
Limb Body Wall Complex |
|
Corneal opacity, Ventricular septal defect, Spina bifida, Abnormal spinal cord morphology, Abnorm... |
ORPHA:2369 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Hypotonia, Dystonia |
OMIM:619167 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Cataract |
OMIM:614879 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Resting tremor, Cholelithiasis, Aggressive behavior, Osteoporosis, Spasticity, Increa... |
ORPHA:909 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Acanthocytosis, Tremor, Rigidity, Phonic tics, Dysphagia, Blepharospasm, Choreoath... |
OMIM:234200 |
Solitary Bone Cyst |
|
Pathologic fracture, Abnormal spinal cord morphology, Unicameral bone cyst |
ORPHA:83468 |
Machado-Joseph Disease Type 1 |
|
Spasticity, Dysphagia, Dystonia |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Spasticity, Dysphagia, Dystonia |
ORPHA:276241 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Death in infancy, Hypotonia, Limb dystonia |
OMIM:604377 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Progressive spastic quadriplegia, Progressive spastic paraplegia, Dystonia |
ORPHA:513436 |
Coach Syndrome 1 |
|
Splenomegaly, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:216360 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma, Dystonia |
OMIM:277460 |
Mcleod Syndrome |
|
Splenomegaly, Acanthocytosis, Compulsive behaviors, Dystonia |
OMIM:300842 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Corneal ulceration, Growth delay, R... |
OMIM:223900 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Mercury Poisoning |
|
Tremor, Anorexia, Dystonia |
ORPHA:330021 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Mogs-Cdg |
|
External genital hypoplasia, Thrombocytopenia, Hepatosplenomegaly, Hydrocele testis, Dystonia, In... |
ORPHA:79330 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Eczema, Band keratopat... |
OMIM:186580 |
Monosomy 18P |
|
Generalized dystonia, Hypothyroidism, Hypotonia |
ORPHA:1598 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Diabetes mellitus, Neonatal alloimmu... |
ORPHA:51 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Progressive flexion contractures, Repetitive compulsive behavior, Self-biting, Chor... |
ORPHA:522077 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Hypotonia, Increased mean corpuscular volume, Generalized hypotonia, Dystonia |
OMIM:277410 |
Parkinson Disease 1, Autosomal Dominant |
|
Rigidity, Resting tremor, Dysphagia, Dystonia |
OMIM:168601 |
Pagod Syndrome |
|
Death in infancy, Abnormality of the spleen, Agonadism, Abnormality of neuronal migration, Abnorm... |
ORPHA:991 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Small for gestational age, Short stature, Sclerocornea, Tetralogy of... |
OMIM:619869 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Corneal crystals |
OMIM:219900 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Supernumerary nipple, Sagittal craniosynostosis, Craniosynostosis, Cryp... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Supernumerary nipple, Sagittal craniosynostosis, Craniosynostosis, Cryp... |
ORPHA:352665 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Episodic Ataxia, Type 2 |
|
Dystonia |
OMIM:108500 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mineral density, Increased susceptibility t... |
ORPHA:18 |
Machado-Joseph Disease Type 3 |
|
Spasticity, Dysphagia, Dystonia |
ORPHA:276244 |
Spastic Ataxia 3, Autosomal Recessive |
|
Spasticity, Dystonia |
OMIM:611390 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Sarcoidosis |
|
Uveitis, Tubulointerstitial nephritis, Hypothyroidism, Hepatomegaly, Hyperthyroidism, Maculopapul... |
ORPHA:797 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Progressive spastic paraparesis, Progressive spastic quadriplegia, Dysphagi... |
ORPHA:329308 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Small scrotum, Absent nipple, Small for gestational age, Craniosynostosis, Peri... |
OMIM:612289 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Stiff neck, Maculopapular exanthema, Skin rash, Myocarditis, Fulmi... |
ORPHA:319213 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Rickets, Hypophosphatemic rickets, Elevated circulating parathyroid hormone ... |
OMIM:612089 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation, Gout, Dystonia |
ORPHA:79233 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Arthrogryposis multiplex congenita, Optic atrophy, Onion bulb formation, Optic neuropathy |
ORPHA:320375 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Dystonia, Bone-marrow foam cells, Aggressive behavior, Tre... |
ORPHA:646 |
Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atrial septal defect, Hypothyroidism,... |
OMIM:243800 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
Developmental And Epileptic Encephalopathy 38 |
|
Dystonia, Axial hypotonia, Limb hypertonia |
OMIM:617020 |
Kcnq2-Related Epileptic Encephalopathy |
|
Hypotonia, Dystonia |
ORPHA:439218 |
Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Progressive spastic quadriplegia, Decerebrate rigidity, Generalized ... |
ORPHA:309271 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decerebrate rigidity, Generalized hypotonia, Dystonia, Spasticity, Intention tremor |
ORPHA:309263 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism, Hypertonia, Dysphagia, Dystonia |
ORPHA:480864 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Hypertonia, Frog-leg posture, Arm dystonia |
ORPHA:79244 |
Acromelic Frontonasal Dysostosis |
|
Periventricular nodular heterotopia, Cryptorchidism, Gray matter heterotopia, Hypopituitarism, Ag... |
OMIM:603671 |
Metachromatic Leukodystrophy |
|
Dystonia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Decerebrate rigid... |
ORPHA:512 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia, Pancreatitis |
OMIM:207750 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Dystonia, Tremor, Head tremor, Dysphagia |
OMIM:606002 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Hypotonia |
OMIM:617563 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary ci... |
OMIM:613471 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Decerebrate rigidity, Dystonia, Spasticity, Inf... |
ORPHA:79255 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormality of neuronal migration, Acute... |
ORPHA:647 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Facial hypotonia, Exaggerated startle response, Severe muscular hypotonia, Dystonia |
ORPHA:438216 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Gout, Xanthelasma, Inflammation o... |
OMIM:232240 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Tremor, Hypotonia, Death in childhood, Generalized hypotonia, Dystonia, Neonata... |
OMIM:610505 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Dystonia, Oculogyric crisis, Rigidity, Neoplasm of the thymus, Hypersexuality, ... |
ORPHA:217253 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Spasticity, Limb dystonia |
OMIM:616840 |
Arboleda-Tham Syndrome |
|
Axial hypotonia, Craniosynostosis, Bilateral cryptorchidism, Hypotonia, Dysphagia, Lower limb hyp... |
OMIM:616268 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Myositis, Dextrocardia, Cryptorchidism, Jaundice, Abnormal spin... |
ORPHA:3310 |
Genitopatellar Syndrome |
|
Hip contracture, Small scrotum, Enlarged labia minora, Periventricular heterotopia, Cryptorchidis... |
OMIM:606170 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Spasticity, Decerebrate rigidity, Generalized hypotonia, Dystonia |
ORPHA:309256 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Beta-Ureidopropionase Deficiency |
|
Neonatal hypotonia, Hypotonia, Bifid scrotum, Dystonia |
OMIM:613161 |
Leber Optic Atrophy |
|
Postural tremor, Dystonia |
OMIM:535000 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... |
ORPHA:89936 |
Parkinson Disease 20, Early-Onset |
|
Tremor, Rigidity, Dysphagia, Dystonia |
OMIM:615530 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:616811 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Rigidity, Cryptorchidism, Osteoporosis, ... |
ORPHA:2636 |
Alobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:220386 |
Proteus Syndrome |
|
Central heterochromia, Cataract, Thymus hyperplasia, Testicular neoplasm, Craniosynostosis, Neopl... |
ORPHA:744 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Exaggerated startle response, Abnormality of the endocrine system, Cryp... |
ORPHA:438213 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Rigidity, Splenomegaly, Hypertonia, Dystonia, Spastic paraparesis, Polycythemia, Action tremor |
ORPHA:309854 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dystonia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypo... |
OMIM:175780 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix |
ORPHA:2347 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Cryptorchidism, Abnormal spinal cord morphology, Dys... |
ORPHA:1724 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Leukocytosis, Agitation, Dysphagia, ... |
ORPHA:94093 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Nail-biting, Small scrotum, Aggressive behavior, Hair-pulling, Polyphagia, Hypotoni... |
OMIM:620330 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Attention deficit hyperactivity disorder, Compulsive behaviors, Perivent... |
OMIM:618918 |
Superficial Siderosis |
|
Anisocoria, Atrophy of the spinal cord, Abnormal spinal cord morphology, Abnormality of the vesti... |
ORPHA:247245 |
Caribbean Parkinsonism |
|
Rigidity, Action tremor, Dystonia |
ORPHA:97355 |
Orofaciodigital Syndrome Type 1 |
|
Tarsal synostosis, Tremor, Pancreatic cysts, Reduced bone mineral density, Dystonia, Agenesis of ... |
ORPHA:2750 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Cataract, Wide anterior fontanel, Dystonia, Pathologic fracture |
ORPHA:90349 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Leukemia, Agenesis of corpus callosum |
OMIM:276300 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Asplenia, Flexion contracture, Webbed penis, Micropenis, Abnormal repetitive manne... |
ORPHA:261537 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Cryptorchidism, Epispadias, Partial agenesis of the corpus callosum,... |
OMIM:615948 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Tremor, Rigidity, Dysphagia, Retrocollis, Limb dystonia |
OMIM:601104 |
Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Hyperlipidemia, Myocardial steatosis, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |
Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Asplenia, Abnormal pupil morphology, Flexion contracture, Microcornea, Webbed peni... |
ORPHA:261552 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Generalized hypotonia, Perivent... |
OMIM:619895 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Osteomalacia |
OMIM:600740 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Pancreatic cysts, Ovarian cyst, Gray matter heterotopia, Agenesis of ... |
OMIM:311200 |
Idiopathic Camptocormia |
|
Osteoarthritis, Dystonia |
ORPHA:1320 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Asplenia, Flexion contracture, Webbed penis, Micropenis, Abnormal repetitive manne... |
ORPHA:2152 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Rigidity, Retrocollis, Dysphagia |
OMIM:609454 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
Orofaciodigital Syndrome Type 14 |
|
Periventricular heterotopia, Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus... |
ORPHA:434179 |
Kufor-Rakeb Syndrome |
|
Oculogyric crisis, Rigidity, Blepharospasm, Hypertonia, Dysphagia, Lingual dystonia |
ORPHA:306674 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Axial hypotonia, Oculogyric crisis, Maturity-onset diabetes of the young, Tremor, Hypertonia |
ORPHA:1578 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Iris coloboma, Abnormality of neuronal migration |
ORPHA:3186 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypotonia, Dystonia |
OMIM:618222 |
Multiple Osteochondromas |
|
Limitation of joint mobility, Abnormal cartilage morphology, Arthritis, Dysphagia, Limited hip mo... |
ORPHA:321 |
Generalized Arterial Calcification Of Infancy |
|
Calcification of the auricular cartilage, Failure to thrive in infancy, Osteomalacia, Adrenal cal... |
ORPHA:51608 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |