Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Subcortical band heterotopia, Spastic tetraplegia, Pachygyria, Agyria, Cataract, Gray matter hete... |
OMIM:615412 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... |
OMIM:604317 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Spastic tetraplegia, Lissencephaly, Pachygyria, Agyria, Gray matter... |
OMIM:615411 |
Dystonia 30 |
|
Dystonia, Arm dystonia, Writer's cramp, Torticollis, Hypothalamic hamartoma, Oromandibular dyston... |
OMIM:619291 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Lingual dystonia, Axial dystonia, Torticollis, Focal dystonia, Laryngeal dystonia, Craniofacial d... |
ORPHA:329466 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Agenesis of corpus callosum, Ataxia, Pachygyria, Micropenis, Agyria, Spasticity... |
OMIM:300067 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Dysphagia, Torticollis, Slender build, Generalized dystonia, Torsion dystonia, Gait ataxia, Limb ... |
OMIM:128101 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Spastic tetraparesis, Pachygyria, Agyria, Abnormal cerebral white m... |
OMIM:607432 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Failure to thrive, Periventricular nodular heterotopia, Progressive ... |
OMIM:608097 |
Microlissencephaly |
|
Periventricular heterotopia, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Liss... |
ORPHA:1083 |
Lissencephaly 3 |
|
Gray matter heterotopia, Spastic tetraplegia, Lissencephaly, Ataxia, Pachygyria, Polymicrogyria, ... |
OMIM:611603 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... |
ORPHA:101029 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Flexion contracture, Gray matter heterotopia, Cryptorchidism... |
OMIM:617201 |
Autosomal Recessive Spastic Paraplegia Type 56 |
|
Dystonia, Abnormal globus pallidus morphology, Spastic gait, Tip-toe gait, Abnormal cerebral whit... |
ORPHA:320411 |
Kennedy Disease |
|
Testicular atrophy, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Hypotonia,... |
ORPHA:481 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Dystonia, Arthrogryposis multiplex congenita, Simplified gyral pattern, Pachygyria, Spasticity, F... |
OMIM:618397 |
Dystonia 32 |
|
Dysphagia, T2 hypointense basal ganglia, Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:619637 |
Rft1-Cdg |
|
Hepatomegaly, Short stature, Failure to thrive, Arthrogryposis multiplex congenita, Bilateral bas... |
ORPHA:244310 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Developmental cataract... |
OMIM:604168 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Abnormality of the menstrual cycle, Arth... |
ORPHA:905 |
Striatonigral Degeneration, Childhood-Onset |
|
Dystonia, Dysphagia, Loss of ability to walk, Craniofacial dystonia, Hypertonia, Unsteady gait |
OMIM:617054 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Dysphagia, Cholelithiasis, Hypogonadism, Generalized hypotonia, Cataract, Cer... |
OMIM:160900 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract |
ORPHA:79281 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism, Microcephaly |
OMIM:618165 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Pachygyria, Agyria, Spasticity, Gray matter heterotopia, Muscular hypotonia of the trunk, Neonata... |
ORPHA:1084 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Ataxia, Infertility, Azoospermia |
OMIM:613909 |
Dystonia 25 |
|
Torticollis, Limb dystonia, Lingual dystonia, Laryngeal dystonia |
OMIM:615073 |
Rare Non-Syndromic Intellectual Disability |
|
Dystonia, Dysgenesis of the basal ganglia, Absent septum pellucidum, Hypoplastic hippocampus, Pol... |
ORPHA:101685 |
Hemidystonia-Hemiatrophy Syndrome |
|
Dystonia, Dense calvaria, Abnormal periventricular white matter morphology, Abnormal basal gangli... |
ORPHA:306741 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Hypercholesterolemia, Hepatic ... |
OMIM:615703 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Cardiomyopathy, Hepatic steatosis, Hypertriglyceridemia, Diabetes me... |
OMIM:610717 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia |
ORPHA:276183 |
Dystonia With Cerebellar Atrophy |
|
Dystonia, Dysphagia, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia |
OMIM:611694 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... |
OMIM:614480 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Leukoencephalopathy, Progressive leukoencephalopathy, Ataxia, Spasticity, Premature ova... |
OMIM:615889 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Ataxia, Hypotonia, Attent... |
OMIM:618709 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Spastic tetraplegia, Periventricular ribbonlike heterotopia, Hypertonia, Thick cerebral cortex, H... |
OMIM:618677 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Periventricular Nodular Heterotopia 8 |
|
Microcephaly, Attention deficit hyperactivity disorder, Periventricular nodular heterotopia, Spas... |
OMIM:618185 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... |
OMIM:617093 |
Dystonia 6, Torsion |
|
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Laryngeal dystonia, Torsio... |
OMIM:602629 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatos... |
OMIM:618805 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Short stature, Elevated hepatic transaminase, Fai... |
OMIM:256810 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Dysphagia, Decreased fertility |
OMIM:313200 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly, Cataract, Epiphyseal stippling |
OMIM:614882 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Failure to thrive, Ataxia, Hypertonia, Spasticity, Cerebral ca... |
ORPHA:1314 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Dysplastic corpus callosum, Failure to thrive, Ataxia, Inability to walk, Spasticity, G... |
OMIM:618276 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... |
OMIM:232700 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Short stature, Increased susceptibility to fractures, Cranial n... |
ORPHA:52430 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Dystonia, Gait disturbance, Leukoencephalopathy, Ataxia, Spasticity, Cerebral calcification |
OMIM:614561 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Cataract, Diabetes mellitus, Impotenc... |
OMIM:606069 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Reduced lyso... |
OMIM:278000 |
Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Cerebral calcification, Death in childhood, Abnormal cerebral white matter morphology, ... |
OMIM:610329 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract |
OMIM:300719 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Dystonia, Partial agenesis of the corpus callosum, Death in infancy, Anemia,... |
OMIM:619302 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Dystonia, Spastic tetraplegia, Progressive microcephaly, Secondary microcephaly, Muscular hypoton... |
OMIM:251280 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Dystonia, Diffuse white matter abnormalities, Generalized hypotonia, Secondary microcephaly, Micr... |
OMIM:616763 |
Primary Dystonia, Dyt17 Type |
|
Torticollis, Craniofacial dystonia, Generalized dystonia |
ORPHA:370103 |
Dystonia 31 |
|
Arm dystonia, Dysphagia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized d... |
OMIM:619565 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Hyperlipidemia, Increased circulating cortisol level, Diabetes mellitus, Typ... |
ORPHA:189439 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Osteoporosis, Weight ... |
ORPHA:465508 |
Dystonia 28, Childhood-Onset |
|
Gait disturbance, Dystonia, Torticollis, Oromandibular dystonia, Retrocollis, Laryngeal dystonia,... |
OMIM:617284 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Epiphyseal stippling, Elevated circulating aspartate ami... |
OMIM:614876 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Generalized hypotonia, Cataract, Spasticity, Cerebral atrophy, Flexion contrac... |
OMIM:617393 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased distal sensory nerve action potential... |
OMIM:618400 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... |
OMIM:613812 |
Developmental And Epileptic Encephalopathy 7 |
|
Dystonia, Spastic tetraparesis, Generalized hypotonia, Hypotonia, Hypoplasia of the corpus callosum |
OMIM:613720 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Tubulointerstitial nephritis, Short stature, Insulin-resistant diabetes m... |
OMIM:203800 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Dystonia, Death in infancy, Spastic tetraplegia, Simplified gyral pattern, H... |
OMIM:619301 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Limited elbow flexion, Axonal loss, Motor conduction b... |
ORPHA:206594 |
Spastic Paraparesis-Deafness Syndrome |
|
Gait disturbance, Hypogonadism, Ataxia, Cataract, Spastic paraparesis |
ORPHA:2815 |
Band Heterotopia |
|
Subcortical band heterotopia, Polymicrogyria, Spasticity, Gray matter heterotopia, Agenesis of co... |
OMIM:600348 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Spastic Ataxia 1, Autosomal Dominant |
|
Dystonia, Gait disturbance, Dysphagia, Spastic ataxia, Spastic paraplegia |
OMIM:108600 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Spastic paraplegia, Inability to walk, Periventricular nodular heterotopia, Microcephaly |
OMIM:618572 |
Striatonigral Degeneration, Infantile |
|
Failure to thrive, Dystonia, Dysphagia, Spasticity |
OMIM:271930 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Corneal opacity, Cerebral calcification, Thrombocytopenia, Mic... |
ORPHA:1980 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Limb ... |
ORPHA:464440 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis, ... |
OMIM:617872 |
Huntington Disease-Like 2 |
|
Dystonia, Gait disturbance, Abnormal corpus striatum morphology, Caudate atrophy, Abnormal cerebr... |
ORPHA:98934 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, R... |
OMIM:300635 |
Aicardi-Goutieres Syndrome 2 |
|
Dystonia, Lymphocytosis, Cerebral atrophy, Spastic paraplegia, Basal ganglia calcification, Micro... |
OMIM:610181 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy |
OMIM:615395 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme level, Hepatic fibrosis, Hepatocellula... |
ORPHA:370 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia, Testicular atrophy, Cerebral calcification |
OMIM:613987 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic g... |
ORPHA:369 |
Spastic Paraparesis And Deafness |
|
Hypogonadism, Cataract, Spastic paraparesis |
OMIM:312910 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Bone cyst, Axonal loss, Caudate atrophy, Peripheral demyelination, Leukoencephalopathy, Pathologi... |
OMIM:221770 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated circulating alkaline ... |
OMIM:616829 |
Primary Dystonia, Dyt13 Type |
|
Dystonia, Torticollis, Focal dystonia, Craniofacial dystonia, Generalized dystonia, Torsion dysto... |
ORPHA:98807 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Small for gestational age, Failure to thrive, Arthrogryposis multiplex congenita, Cataract, Spast... |
OMIM:212540 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... |
ORPHA:300573 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Gray matter heterotopia, Spastic paraplegia, Leukoencephalopathy, H... |
OMIM:615191 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Hypotonia, Hypertonia, Joint stiffness, Hypoplasia of penis, M... |
ORPHA:2216 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Osteoporosis, Macrovesicular hepati... |
OMIM:618234 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Dystonia, Dysphagia, Opisthotonus, Megaloblastic anemia, Podagra, Spasticity,... |
OMIM:300322 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Dysphagia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, At... |
OMIM:222300 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Hypocholesterolemia, Failure to thri... |
OMIM:607765 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... |
OMIM:607734 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Cerebral white matter atrophy, Hepatic steatosis, Cataract, Elevated hepatic transa... |
ORPHA:369840 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Osteoporosis, Splenom... |
OMIM:235200 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Dysphagia, Rigidity, Bradykinesia, Primary amenorrhea, ... |
OMIM:157640 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Dystonia, Death in infancy, Failure to thrive, Spasticity, Cerebral atrophy, Hypotonia, Microceph... |
OMIM:616034 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Lower limb spasticity, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Gene... |
OMIM:616756 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Po... |
ORPHA:280356 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Ventricular hypertrophy, Left v... |
OMIM:619048 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Intrauterine growth retardation, Failure to thrive, P... |
OMIM:618237 |
Galactokinase Deficiency |
|
Nuclear cataract, Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Failur... |
ORPHA:79237 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... |
ORPHA:3453 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Intrauterine growth retardation, Small for gestational age, Peripheral demyelination, Left ventri... |
OMIM:616733 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenom... |
OMIM:612526 |
Tangier Disease |
|
Hepatomegaly, Peripheral axonal neuropathy, Facial diplegia, Peripheral demyelination, Splenomega... |
OMIM:205400 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Portal fibrosis, Short stature, Splenomegaly, Abnormal erythrocyte enzyme level, Hepatic fibrosis... |
ORPHA:264580 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Inability to walk, Polymicrogyria, Spasticity, Cerebral atrophy, Oculogyric crisis, Hyp... |
OMIM:614254 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Intrauterine growth retardation, Failure to thrive, Cardiomyopathy, Hepatic steato... |
ORPHA:26792 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Oligomenorrhea, Hypertriglyceridemia, Diabetes mellitus |
OMIM:613877 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Axonal loss, Peripheral demyelination, Cerebral atrophy, Decreased body weight, Hypoplasia of the... |
OMIM:617672 |
Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Redu... |
ORPHA:2410 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, CNS demyelination, Failure to thrive, Peripheral demyelination,... |
OMIM:220111 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Pulmonic stenosis, Decreased liver function, Hepatic steatosi... |
OMIM:614300 |
Martsolf Syndrome 2 |
|
Developmental cataract, Hypogonadotropic hypogonadism, Spastic diplegia, Cataract, Camptodactyly ... |
OMIM:619420 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Cataract, Jaundice |
ORPHA:79238 |
Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Cerebral cortical atrophy, Limb dy... |
OMIM:614860 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Gray matter ... |
OMIM:604213 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination, Joint contr... |
OMIM:609033 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Decreased skull ossification |
OMIM:601163 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Neuroendocrine neoplasm, Abnormal response to corticotropin rel... |
ORPHA:189427 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microcornea, Corneal opacity, Large for gestational age |
ORPHA:2432 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis, Cataract, Abnormal enzyme... |
ORPHA:570422 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Gait disturbance, Dysphagia, Rigidity, Failure to thrive, Cogwheel rigidity, Basal gang... |
ORPHA:225154 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Dystonia, Gait disturbance, Pseudobulbar paralysis, Lower limb spasticity, Cataract, Premature ov... |
ORPHA:101006 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Infantile axial hypotonia, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Br... |
ORPHA:521406 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Dystonia, Hypoplasia of the olfactory bulb, Spastic tetraplegia, Inability to walk, Abnormality o... |
OMIM:618646 |
Developmental And Epileptic Encephalopathy 69 |
|
Dystonia, Arthrogryposis multiplex congenita, Spastic tetraplegia, Inability to walk, Corpus call... |
OMIM:618285 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Decreased phosphoribosylpyrophosphate synthetase level, Segm... |
OMIM:311070 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Elevated hepatic transaminase, ... |
OMIM:613861 |
Developmental And Epileptic Encephalopathy 38 |
|
Dystonia, Hypertonia, Ataxia, Generalized hypotonia |
OMIM:617020 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Dystonia, Dysphagia, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Hyp... |
ORPHA:251282 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... |
OMIM:118200 |
Gabriele-De Vries Syndrome |
|
Dystonia, Waddling gait, Abnormal cerebral white matter morphology, Cryptorchidism, Joint laxity |
OMIM:617557 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyce... |
ORPHA:436182 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Dystonia, Spastic tetraplegia, Ataxia, Small basal ganglia, Infantile muscular hypotonia, Abnorma... |
ORPHA:263410 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Large basal ganglia, Cortical dysplasia, Absent septum pellucidum, Hyperactivity, Polym... |
ORPHA:88616 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin rash, Hypertriglyceridemia |
OMIM:619175 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Lower limb spasticity, Iron accumulation in globus pallidus, Ataxia, Inability to walk, Corpus ca... |
OMIM:619389 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Death in infancy, Neutropenia, Hypertonia, Generalized hypotonia, Cataract, Cerebral at... |
OMIM:617248 |
Halothane Hepatitis |
|
Viral hepatitis, Hepatitis, Obesity, Jaundice |
OMIM:234350 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Failure to thrive, D... |
OMIM:305400 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Paroxysmal dystonia, Dysphagia |
OMIM:118800 |
Cyanosis And Hepatic Disease |
|
Hepatitis, Abnormal abdomen morphology |
OMIM:219400 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Dystonia, Ataxia, Central hypothyroidism |
OMIM:616113 |
3-Methylglutaconic Aciduria Type 1 |
|
Dystonia, Failure to thrive, Spastic tetraparesis, Progressive cerebellar ataxia, Abnormality of ... |
ORPHA:67046 |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Paroxysmal dystonia, Writer's cramp |
ORPHA:163727 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Generalized joint laxity, Spastic dysarthria, Facial hypotonia, Cerebral cortical atrop... |
ORPHA:280763 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... |
OMIM:606483 |
Krabbe Disease |
|
Optic atrophy, CNS demyelination, Failure to thrive, Peripheral demyelination, Decreased nerve co... |
OMIM:245200 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Gait disturbance, Abnormality of the ovary, Hypogonadism, Cataract, Hypotonia, Decreased testicul... |
ORPHA:1875 |
Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Bone cyst, Precocious puberty in females, Oligomenorrh... |
ORPHA:528 |
Adrenomyodystrophy |
|
Short stature, Failure to thrive, Primary adrenal insufficiency, Reduced bone mineral density, He... |
ORPHA:977 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis |
OMIM:614379 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Decreased calvarial ossification, Joint hyperflexibility, Ambi... |
ORPHA:2772 |
Galactosemia |
|
Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... |
ORPHA:352 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Dysphagia, Adrenal insufficiency, Generalized dystonia, ... |
OMIM:619025 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Spastic dysarthria, Lower limb spasticity, Cataract, Progressive spastic paraplegia, Agenesis of ... |
ORPHA:401830 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hyperactivity, Ataxia, Hypertriglyceridemia, Spasticity, Cerebral atrophy |
OMIM:615924 |
Hypermanganesemia With Dystonia 2 |
|
Dystonia, Gait disturbance, Oromandibular dystonia, Bradykinesia, Flexion contracture, Spasticity... |
OMIM:617013 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Giant cell hepatitis, Failure to thrive, Right ventricular hypertrophy... |
OMIM:613404 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Hepatomegaly, CNS demyelination, Leukodystrophy, Diffuse hepatic steatosis, Elevat... |
OMIM:264470 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Periventricular cysts, Short stature, Joint hypermobility, Hepatic steatosis, Hepatosplenomegaly,... |
OMIM:619013 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Upper limb spasticity, Reduced sperm motility, Spastic dy... |
ORPHA:320391 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Type II diabetes mellitus, Exocrine pancreatic insufficiency, Asplenia, Hepatitis, Chronic mucocu... |
OMIM:269200 |
4H Leukodystrophy |
|
Dystonia, Dysphagia, Dysmetria, Hypogonadotropic hypogonadism, Progressive gait ataxia, Abnormali... |
ORPHA:289494 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Dystonia, Dysphagia, Muscular hypotonia of the trunk, Cerebral cortical atrophy, Spasticity, Agen... |
OMIM:617669 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Dysphagia, Hypertonia, Cerebral calcification, Hypotonia, Microcephaly |
OMIM:261630 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... |
OMIM:118220 |
Chromosome 18P Deletion Syndrome |
|
Dystonia, Small for gestational age, Micropenis, Cryptorchidism, Decreased testicular size, Gonad... |
OMIM:146390 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... |
OMIM:601098 |
Leukodystrophy, Hypomyelinating, 14 |
|
Dystonia, Generalized hypotonia, Spasticity, Cerebral atrophy, Microcephaly |
OMIM:617899 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Failure to thrive, Abnormal heart morphology, Focal T2 hyperintense ... |
ORPHA:70472 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Intrauterine growth retardation, Ascites, Failure to thrive, Ci... |
OMIM:617156 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Peripheral demyelination, CNS demyelination, Optic neuritis |
OMIM:165200 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Dystonia, Hypointensity of cerebral white matter on MRI, Ataxia |
OMIM:619196 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Peripheral demyelination, Decreased number of small ... |
ORPHA:101097 |
16P11.2P12.2 Microduplication Syndrome |
|
Hypospadias, Dystonia, Attention deficit hyperactivity disorder, Microcephaly |
ORPHA:261204 |
Classic Galactosemia |
|
Decreased fertility in females, Gait disturbance, Dystonia, Secondary amenorrhea, Gait imbalance,... |
ORPHA:79239 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Cataract |
OMIM:607906 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
Juvenile Huntington Disease |
|
Dystonia, Neuronal loss in basal ganglia, Rigidity, Oral motor hypotonia, Weight loss, Bradykines... |
ORPHA:248111 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Dystonia, Gait disturbance, Dysphagia, Ataxia, Craniofacial dystonia, Spasticity |
OMIM:617282 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Giant cell hepatitis, Failure to thrive, Right ventricular hypertrophy... |
OMIM:208085 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Dystonia, Dysmetria, Spastic dysarthria, Leukoencephalopathy, Spastic ataxia, Progressive cerebel... |
ORPHA:314603 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Basal lamina onion bulb form... |
OMIM:614895 |
Leukodystrophy, Hypomyelinating, 18 |
|
Progressive spasticity, Dystonia, Dysmetria, Failure to thrive, Spastic tetraplegia, Secondary mi... |
OMIM:618404 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Failure to thrive, Arthrogryposis multiplex congenita, Hypertonia, Cataract, Cryptor... |
ORPHA:250994 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Ddost-Cdg |
|
Short stature, Failure to thrive, Osteopenia, Hepatic steatosis, Primary hypothyroidism, CNS hypo... |
ORPHA:300536 |
Cirrhosis, Familial |
|
Cirrhosis, Chronic active hepatitis, Hepatitis |
OMIM:118900 |
Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Ataxia, Inability to walk, Spasticity, Secondary microcephaly, Difficulty walking, Leth... |
OMIM:617829 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Neonatal death, Arthrogryposis multiplex congenita, Inability to walk, Generalized hypo... |
OMIM:611890 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... |
OMIM:615643 |
Huntington Disease |
|
Dystonia, Gait disturbance, Gait imbalance, Rigidity, Caudate atrophy, Polyphagia, Decreased body... |
ORPHA:399 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... |
ORPHA:2932 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... |
ORPHA:208981 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Eleva... |
OMIM:614582 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... |
OMIM:606482 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Dysphagia, Rigidity, Small for gestational age, Bradykinesia, Ataxia, Hypertonia, Muscu... |
OMIM:261640 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, CNS demyelination, Short stature, Peripheral demyelination, Splenomegaly, Corneal o... |
OMIM:272200 |
Hepatocellular Carcinoma |
|
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma |
OMIM:114550 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Type II diabetes mellitus, Cholelithiasis, Cholestatic liver disease, Hypog... |
ORPHA:79095 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
Alg2-Cdg |
|
Hepatomegaly, Cerebral hypomyelination, Hyperintensity of cerebral white matter on MRI, Iris colo... |
ORPHA:79326 |
Aicardi-Goutieres Syndrome 6 |
|
Dystonia, Rigidity, Loss of ability to walk, Cerebral calcification, Hemolytic anemia, Microcephaly |
OMIM:615010 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Small for gestational age, Hypergonadotropic hypogonadism, Insulin-r... |
ORPHA:2959 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Achilles tendon contracture, Abnormal cerebral white matter morphology, Pachygyria, Tip-toe gait,... |
ORPHA:370980 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Cachexia, Peripheral axonal neuropathy, Decreased numb... |
ORPHA:298 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Cardiomyopathy, Microcephaly |
OMIM:615119 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Dystonia, Inability to walk, Spasticity, Generalized hypotonia, Hypoplasia of the corpus callosum... |
OMIM:617820 |
Galactosemia Iv |
|
Prolonged neonatal jaundice, Cataract |
OMIM:618881 |
Primary Dystonia, Dyt21 Type |
|
Paroxysmal dystonia, Dystonia, Axial dystonia, Torticollis, Focal dystonia, Laryngeal dystonia, G... |
ORPHA:306734 |
Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Dystonia, Macroorchidism, Spastic gait, Juvenile cataract, Shuffling gait, Bradykinesia, Spastic ... |
OMIM:300055 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Osteoporosis, Hypogonadism, Hepatic steatosis, Hypertriglyceridemia, Flexion contra... |
OMIM:615381 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... |
ORPHA:562 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... |
OMIM:608340 |
Cofs Syndrome |
|
Hypotonia, Death in infancy, Arthrogryposis multiplex congenita, Hypogonadism, Hypertonia, Catara... |
ORPHA:1466 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... |
ORPHA:209902 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Dystonia, Inability to walk, Waddling gait, Spasticity, Flexion contracture, Spastic paraplegia, ... |
OMIM:614066 |
Mucolipidosis Iv |
|
Dystonia, Dysplastic corpus callosum, Spastic tetraplegia, Hypergastrinemia, Corneal opacity, Gen... |
OMIM:252650 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Cholelithias... |
ORPHA:848 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Acute pancreatitis, Cerebral atrophy, Basal ganglia calcification, Portal hyp... |
OMIM:619487 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Small for gestational age, Basal ganglia cysts, Generalized hypotonia, Episodic ataxia,... |
OMIM:312170 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... |
OMIM:301045 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Ataxia, Spasticity, Abnormal cerebral white matter morphology, Gait ataxia, Muscular hy... |
OMIM:607317 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Intrauterine growth retardation, Small for gestational age, Failure to thrive, Hepa... |
OMIM:614602 |
Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
Dystonia, Focal, Task-Specific |
|
Writer's cramp |
OMIM:611284 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Bronchiectasis, Chronic otitis media, Failure to thrive, Hepatitis, Arthritis, Osteomy... |
ORPHA:33110 |
Galactosemia Ii |
|
Prolonged neonatal jaundice, Cataract |
OMIM:230200 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Dystonia, Dysmetria, Failure to thrive, Leukoencephalopathy, Ataxia, Spasticity, Generalized hypo... |
OMIM:617954 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia, Cataract, Spasticity, Cerebral atrophy, Hypotonia, Microcephaly, Neonatal hypotonia |
OMIM:616271 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis... |
OMIM:615830 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Developmental And Epileptic Encephalopathy 73 |
|
Failure to thrive, Cataract, Flexion contracture, Delayed CNS myelination, Hypoplasia of the corp... |
OMIM:618379 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Splenomegaly, Recurrent otitis media |
ORPHA:444463 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Gait disturbance, Small for gestational age, Increased body ma... |
OMIM:300957 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination, Myelitis, Optic neuritis |
ORPHA:71211 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... |
ORPHA:99953 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive,... |
OMIM:212140 |
Jaberi-Elahi Syndrome |
|
Dystonia, Dysmetria, Failure to thrive, Joint hypermobility, Inability to walk, Cataract, Spastic... |
OMIM:617988 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination, Abnormal perive... |
OMIM:249900 |
Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Hemorrhagic ovarian cyst, Amenorrhea, Osteoporosis, Ost... |
ORPHA:397685 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... |
OMIM:145900 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hypotonia, Dystonia, Death in infancy, Splenomegaly |
ORPHA:139406 |
3-Hydroxyisobutyric Aciduria |
|
Failure to thrive, Abnormality of neuronal migration, Congenital intracerebral calcification, Mic... |
OMIM:236795 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Short stature, Recurrent cutaneous abscess formation, Chronic otitis media, Failure to... |
ORPHA:47 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Dystonia, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Tip-toe gait, Cataract, Spastic... |
OMIM:609195 |
Developmental And Epileptic Encephalopathy 16 |
|
Dystonia, Generalized hypotonia, Cerebral atrophy, Secondary microcephaly, Microcephaly, Severe m... |
OMIM:615338 |
Isolated Sedoheptulokinase Deficiency |
|
Severe postnatal growth retardation, Short stature, Hepatitis, Arthrogryposis multiplex congenita... |
ORPHA:440713 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... |
OMIM:609260 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Developmental cataract, Death in infancy, Small for gestational age, Micropenis, Cataract, Campto... |
OMIM:610756 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Growth delay, Ascites, Failure to thrive, Depletion of mit... |
OMIM:251880 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Cardiomyopathy, Decreased liver function, Iris hypopigmentation, Cataract, Mic... |
ORPHA:67048 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Dystonia, Adrenal insufficiency, Caudate atrophy, Failure to thrive, Spastic tetraplegia, Spastic... |
OMIM:618238 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Death in childhood, Osteoporosis, Arthrogryposis multiplex congenita, Joint co... |
OMIM:214150 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Failure to thrive, Splenomegaly |
OMIM:269840 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysmetria, Simplified gyral pattern, Pachygyria, Dysdiadochokinesis, Truncal ataxia, Broad-based ... |
OMIM:224050 |
Warburg Micro Syndrome 3 |
|
Microcornea, Hypoplastic labia minora, Developmental cataract, Shallow anterior chamber, Cerebral... |
OMIM:614222 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Cholelithiasis, Elevat... |
ORPHA:567983 |
Developmental And Epileptic Encephalopathy 27 |
|
Dystonia, Spasticity, Generalized hypotonia, Hypotonia, Microcephaly |
OMIM:616139 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Failure to thrive in infancy, Interface hepatitis, Elevated serum transaminases during infections... |
OMIM:611182 |
Adrenomyodystrophy |
|
Hepatic steatosis, Megalocornea, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma |
OMIM:300270 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... |
OMIM:615438 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Puberty and gonadal disorders, Muscular hypotonia of the trunk, Cerebral white matter a... |
ORPHA:464282 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Cataract, Premature ovarian insufficiency, Severe short stature |
ORPHA:2278 |
Cog7-Cdg |
|
Hepatomegaly, Small for gestational age, Failure to thrive, Abnormal heart morphology, Subcortica... |
ORPHA:79333 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Cerebral atrophy, Substantia nigra gliosis |
OMIM:600116 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
OMIM:615238 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity |
OMIM:162600 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... |
OMIM:603471 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, CNS hypomyelination... |
ORPHA:280234 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Dystonia, Cerebral white matter atrophy, Abnormal substantia nigra mo... |
ORPHA:98756 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
Wilson Disease |
|
Hepatomegaly, Hypoparathyroidism, Hepatocellular carcinoma, Osteoporosis, Cirrhosis, Joint hyperm... |
OMIM:277900 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Aldehyde oxidase deficiency, Axonal loss, Growth delay, Ectopia lentis, Peripheral demyelination,... |
OMIM:252150 |
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures |
|
Microcephaly, Dystonia, Spasticity, Generalized hypotonia |
OMIM:613970 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Dysplastic corpus callosum, Failure to thrive, Leukoencephalopathy, Macrovesicular ... |
OMIM:614924 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Failure to thrive, Leukodystrophy, Decreased liver function, Corpus callosum atrop... |
OMIM:614877 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Dysphagia, Caudate atrophy, Bradykinesia, Hypertonia, Spasticity, Cerebral atrophy, Uns... |
OMIM:617435 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... |
ORPHA:158061 |
Mental Retardation, Autosomal Dominant 13 |
|
Abnormality of neuronal migration, Gait disturbance, Spastic tetraplegia, Pachygyria, Hypotonia, ... |
OMIM:614563 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Dysphagia, Dysmetria, Ataxia, Corpus callosum atrophy, Spasticity, Generalized hypotoni... |
OMIM:618088 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Dysphagia, Spastic tetraparesis, Hypertonia, Micropenis, Muscular hypotonia of the trun... |
OMIM:308350 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... |
OMIM:214950 |
Christianson Syndrome |
|
Dystonia, Dysphagia, Cachexia, Arthrogryposis multiplex congenita, Microcephaly, Aplasia/Hypoplas... |
ORPHA:85278 |
Primary Dystonia, Dyt6 Type |
|
Dystonia, Lingual dystonia, Torticollis, Laryngeal dystonia, Craniofacial dystonia, Generalized d... |
ORPHA:98806 |
Leukodystrophy, Hypomyelinating, 16 |
|
Dystonia, Dysmetria, Hypertonia, Hypoplasia of the corpus callosum, Broad-based gait, Generalized... |
OMIM:617964 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Cataract, Elevated hepatic tran... |
OMIM:618958 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Progressive spasticity, Hypogonadism, Cataract, Microcornea, Microcephaly |
ORPHA:2528 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Optic atrophy, Hypoplasia of the corpus callosum, Peripheral axonal neuropathy |
OMIM:615035 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Pericardial effusion, Hypergonadotropic hypogonadism, Hypocholest... |
OMIM:212065 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:604563 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... |
OMIM:219080 |
Baralle-Macken Syndrome |
|
Dystonia, Inability to walk, Cataract, Spasticity, Obesity, Microcephaly, Neonatal hypotonia |
OMIM:619255 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Inability to walk, Cerebral atrophy, Hypotonia, Secondary microcephaly |
OMIM:618497 |
Developmental And Epileptic Encephalopathy 35 |
|
Intrauterine growth retardation, Cardiomyopathy, Cataract, Delayed CNS myelination, Cerebral atro... |
OMIM:616647 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Adrenal insufficiency, Decreased circulating aldosterone level, Hypopar... |
OMIM:240300 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Caudate atrophy, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia, Cerebral atrop... |
ORPHA:363400 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Failure to thrive, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic live... |
ORPHA:79301 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Growth delay, Short stature, Failure to thrive, Osteoporosis, Abnormal cerebral whi... |
OMIM:614727 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Dysphagia, Failure to thrive, Leukoencephalopathy, Ataxia, Progressive microcephaly, Ge... |
OMIM:618226 |
Spinocerebellar Ataxia Type 11 |
|
Dystonia, Dysphagia, Gait imbalance, Progressive cerebellar ataxia, Difficulty walking |
ORPHA:98767 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral demyelination, Peripheral axonal neuropathy |
ORPHA:231445 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Failure to thrive, Decreased nerve conduction velocity, Acute hepatitis, Decreased ... |
OMIM:238970 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... |
OMIM:614921 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination, Joint contracture of the hand |
OMIM:258650 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Adrenal insufficiency, Pancreatitis, Elevated circulating aspartate ... |
OMIM:619386 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration, Abnormal cortical bone morphology, Splenomegaly, Increased bon... |
ORPHA:2204 |
Dystonia 16 |
|
Dysphagia, Torticollis, Bradykinesia, Unsteady gait, Limb dystonia |
ORPHA:210571 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Foxg1 Syndrome |
|
Dystonia, Agenesis of corpus callosum, Abnormal corpus callosum morphology, Pachygyria, Inability... |
ORPHA:561854 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Rigidity, Bradykinesia, Hypertonia, Generalized dystonia, Basal ganglia c... |
OMIM:618824 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Optic disc pallor, Intrauterine growth retardation, Short stature, Simplified gyra... |
OMIM:616171 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Eczema, Growth delay, Failure to thrive, Elevated hepatic t... |
OMIM:615895 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Dystonia, Dysphagia, Upper limb spasticity, Spastic gait, Spastic dysarthria, Spasticity of facia... |
OMIM:205100 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hyperlipidemia, Decreased body mass ind... |
ORPHA:247585 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Secondary amenorrhea, Maternal diabetes, Dysmenorrhea,... |
ORPHA:79083 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Axonal loss, Growth delay, Ectopia lentis, Peripheral demyelination, Lens luxation, Hypoplasia of... |
OMIM:252160 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice |
ORPHA:60 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Growth delay, Hyperlipidemia, Osteoporos... |
ORPHA:91 |
Porphyria Cutanea Tarda |
|
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Corneal scarrin... |
ORPHA:101330 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Buphthalmos, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cys... |
OMIM:610199 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the upper limbs, Dystonia, Arm dystonia, Dysphagia, Opisthotonus, A... |
ORPHA:300605 |
Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Dysmetria, Leukoencephalopathy, Spastic ataxia, Spasticity, Gait ataxia, Cerebral corti... |
OMIM:611390 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Upper limb hypertonia, Joint hyperflexibility, Cortical dysplasia, Microcephal... |
ORPHA:319199 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... |
ORPHA:90793 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... |
OMIM:613070 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Distal arthrogryposis, Axonal lo... |
OMIM:611228 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Mitral valve prolapse, Lens subluxation, Ectopia lentis, Failure to thrive, Osteoporosis, Pancrea... |
OMIM:236200 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... |
OMIM:617384 |
Senior-Loken Syndrome |
|
Short stature, Congenital hepatic fibrosis, Abnormality of bone mineral density, Cataract, Premat... |
ORPHA:3156 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Achilles tendon contracture, Joint contracture of the hand, Pa... |
OMIM:608840 |
Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Dystonia, Failure to thrive, Hypogonadotropic hypogonadism, Ataxia, Corpus callosum at... |
OMIM:619310 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Primary amenorrhea, Hypergonadotropic hyp... |
OMIM:607080 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ova... |
ORPHA:79085 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Dysphagia, Agenesis of corpus callosum, Microlissencephaly, Pr... |
ORPHA:89844 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cachexia, Cardiomegaly, Decreased liver function, Hepatic st... |
ORPHA:42 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Dystonia, Failure to thrive, Generalized hypotonia, Spasticity, Cerebral atrophy, Microcephaly |
OMIM:617873 |
Dystonia 15, Myoclonic |
|
Dystonia, Writer's cramp |
OMIM:607488 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Dystonia, Joint hypermobility, Ataxia, Inability to walk, Generalized hypotonia, Cerebral atrophy... |
OMIM:617804 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Generalized bone demineralization, Failure to thrive, Weight loss, Hepatitis,... |
ORPHA:199299 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Cardiomyopathy, Peripheral axonal neuropathy, Decreased motor nerve conduct... |
OMIM:610100 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclerosing cholangitis, F... |
ORPHA:2137 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Dysphagia, Rigidity, Oromandibular dystonia, Focal dystonia, Spasticity, Limb d... |
ORPHA:216873 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Dysphagia, Ataxia |
ORPHA:1171 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Abnormal cortical bone morphology, Pachygyria, Gray matter heter... |
ORPHA:2512 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Joint stiffness, Dystonia, Torticollis, Rigidity |
ORPHA:98810 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly, Hepatic steatosis, Elevated hepatic transaminase, Transient hyperlipi... |
OMIM:255120 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... |
OMIM:609311 |
Adult Krabbe Disease |
|
CNS demyelination, Peripheral demyelination, Abnormal corpus callosum morphology, Erectile dysfun... |
ORPHA:206448 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Bilateral generalized polymicrogyria, Oral-pharyngeal dysphagia, Leukoencephalopathy, A... |
ORPHA:178469 |
Rapid-Onset Dystonia-Parkinsonism |
|
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Generalized hypotonia, Gait ataxia, ... |
ORPHA:71517 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Dystonia, Writer's cramp |
ORPHA:36899 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Griscelli Syndrome |
|
Hepatomegaly, Ascites, Short stature, Hepatitis, Splenomegaly, Iris hypopigmentation, Jaundice |
ORPHA:381 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ova... |
ORPHA:435651 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal at... |
OMIM:600882 |
Dystonia 12 |
|
Dystonia, Dysphagia, Torticollis, Bradykinesia, Unsteady gait |
OMIM:128235 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Cach Syndrome |
|
Secondary amenorrhea, Dysphagia, Cataract, Dysmetria, Arthrogryposis multiplex congenita, Dysgyri... |
ORPHA:135 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Partial agenesis of the corpus callosum, Basal ganglia necrosis, Small for gestational ... |
ORPHA:79243 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Inability to walk, Diffuse cerebral atrophy, Oculogyric crisis, Delayed menarche, Diffi... |
ORPHA:330050 |
Microsporidiosis |
|
Sinusitis, Myocarditis, Cholangitis, Hepatitis, Infectious encephalitis, Lymphadenitis, Osteomyel... |
ORPHA:2552 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Splenomegaly, Accessory spleen, Prolonged neonatal jaundice, Ve... |
OMIM:619418 |
Filippi Syndrome |
|
Dystonia, Decreased body weight, Ambiguous genitalia, Cryptorchidism, Microcephaly |
OMIM:272440 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation |
OMIM:618279 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Hypoplasia of the corpus callosum |
ORPHA:2386 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Growth delay, Short stature, Epiphyseal stippling, Failure to thrive, Cataract, Typ... |
ORPHA:251009 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrh... |
OMIM:604367 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination, Decreased nerve conduction velocity |
ORPHA:99944 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic gait, Focal T2 hyperintense basal ganglia lesion, Bradykinesia, Spastic tet... |
OMIM:619052 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Short stature, Micronodular cirrhosis, Cardiomyopathy, Hepatic steatosis, Subcapsul... |
ORPHA:98907 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... |
ORPHA:171 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Intrauterine growth retardation, Cardiomyopathy, Splenomegaly, Hypogonadism, Flexio... |
OMIM:608540 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... |
OMIM:605253 |
Dystonia, Dopa-Responsive |
|
Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rigidity, Dysdiadochokinesis, Spast... |
OMIM:128230 |
Dpm1-Cdg |
|
Hypoplasia of the frontal lobes, Optic atrophy, Hepatomegaly, Hepatic fibrosis, Failure to thrive... |
ORPHA:79322 |
Alg3-Cdg |
|
Dystonia, Cerebral white matter atrophy, Abnormal cerebral morphology, Abnormality of the endocri... |
ORPHA:79321 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypotonia, Dystonia, Spasticity, Generalized hypotonia |
OMIM:616277 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Stiff interphalangeal joints, Pneumonia, Stomatitis, Myosit... |
ORPHA:39812 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Peripheral demyelination, Axonal loss |
OMIM:616684 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Intrauterine growth retardation, Short stature, Aplasia/... |
ORPHA:290 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Corneal arcus, Gout, Hypercholesterolemia, Hepatic steatosis, Xanthelasma, Acute pa... |
ORPHA:412 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Truncal obesity, Joint hypermobility, Hypogonadism, Moderately short stature, Cataract, Microcephaly |
OMIM:268050 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Decreased 3... |
ORPHA:71212 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Rhinitis, Cardiomyopathy, Splenomegaly, Corneal opacity, Abnormal he... |
ORPHA:93476 |
Galloway-Mowat Syndrome 5 |
|
Pachygyria, Peripheral demyelination, Microcephaly |
OMIM:617731 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Short stature, Ventricular hypertrophy, Cardiomyo... |
OMIM:232400 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Intrauterine growth retardation, Epiphyseal stippling, Failure to thrive, Abnormal ... |
OMIM:614866 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Dysphagia, Limb hypertonia, Hyperactivity, Inability to walk, Hypoplasia of the corpus ... |
ORPHA:500180 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Dystonia, Difficulty walking, Generalized hypotonia |
OMIM:618222 |
Aicardi-Goutieres Syndrome 4 |
|
Dystonia, Cerebral calcification, Death in childhood, Splenomegaly, Hepatosplenomegaly, Progressi... |
OMIM:610333 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... |
ORPHA:79084 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Rigidity, Spasticity, Limb ataxia, Gait ataxia, Limb dystonia |
ORPHA:101109 |
Galactosemia I |
|
Hepatomegaly, Failure to thrive, Decreased liver function, Cirrhosis, Cataract, Premature ovarian... |
OMIM:230400 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Failure to thrive in infancy, Adrenal insufficiency, Hypoparathyroidism, ... |
ORPHA:231226 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Failure to thrive, Simplified gyral pattern, Abnormal cerebral white matter morphology,... |
OMIM:614407 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Epiphyseal stippling, Hepatomegaly, Cataract, Jaundice |
OMIM:614872 |
Neuroferritinopathy |
|
Dystonia, Arm dystonia, Leg dystonia, Dysphagia, Writer's cramp, Caudate atrophy, Abnormal caudat... |
ORPHA:157846 |
Partington Syndrome |
|
Focal dystonia, Lower limb spasticity, Flexion contracture, Camptodactyly, Limb dystonia |
OMIM:309510 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries... |
ORPHA:2348 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Dystonia, Small for gestational age, Failure to thrive, Spasticity, Generalized hypotonia, Hypotonia |
OMIM:614702 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... |
OMIM:605285 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Hyperlipidemia, Craniosynostosis, Art... |
ORPHA:254346 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers |
ORPHA:497764 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Anencephaly, Decreased testicular size, Micropenis, Spasticity, Gray matter heterotopia, Opacific... |
OMIM:615287 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Eczema, Pneumonia, Failure to thrive secondary to recurrent infections, Splenomegal... |
OMIM:608971 |
Dystonia 27 |
|
Oromandibular dystonia, Laryngeal dystonia, Writer's cramp |
OMIM:616411 |
Lissencephaly 8 |
|
Hypoplasia of the corpus callosum, Polymicrogyria, Cataract, Spasticity, Lissencephaly, Muscular ... |
OMIM:617255 |
Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Rickets, Polymicrogyria, Pterygium, Osteomalacia, Abnormal cor... |
ORPHA:2671 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Dystonia, Joint contractures involving the joints of the feet, Inability to walk, Infantile muscu... |
ORPHA:457205 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Failure to thrive, Reduced bone mineral density, Splenomegaly, Chole... |
ORPHA:172 |
Gaucher Disease Type 2 |
|
Dystonia, Dysphagia, Splenomegaly, Spasticity, Flexion contracture |
ORPHA:77260 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cataract, Left ventricular noncompaction, Microce... |
OMIM:617228 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevat... |
OMIM:214900 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Short stature, Hepatitis, Splenomegaly, Hypersplenism... |
OMIM:613385 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Short st... |
ORPHA:79259 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:605588 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Short stature, Hypogonadotropic hypogonadism, Motor axonal neuro... |
ORPHA:48431 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Decreased liver function, Pachygyria, Polymicrogyr... |
OMIM:251290 |
X-Linked Intellectual Disability, Snyder Type |
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Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Megalencephaly, Osteoporosis, I... |
ORPHA:3063 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Dystonia, Dysphagia, Dysmetria, Hypogonadotropic hypogonadism, Ataxia, Spasticity, Hypoplasia of ... |
OMIM:607694 |
Spinocerebellar Ataxia 14 |
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Dysphagia, Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Attention deficit hyperactiv... |
OMIM:605361 |
Chylomicron Retention Disease |
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Growth delay, Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, He... |
ORPHA:71 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Dystonia, Dysmetria, Lower limb spasticity, Spastic tetraparesis, Ataxia, Spastic paraplegia, Abn... |
OMIM:612319 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
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Dysphagia, Spastic tetraplegia, Spastic diplegia, Spasticity, Gray matter heterotopia, Microcephaly |
OMIM:617008 |
Combined Oxidative Phosphorylation Defect Type 13 |
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Ankle flexion contracture, Abnormal corpus striatum morphology, Developmental cataract, Hip contr... |
ORPHA:319514 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
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Dystonia, Ataxia, Hypertonia, Progressive microcephaly, Spasticity, Abnormal erythrocyte morpholo... |
ORPHA:71277 |
Congenital Isolated Acth Deficiency |
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Hepatitis, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Prolonged neo... |
ORPHA:199296 |
Morm Syndrome |
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Hyperactivity, Micropenis, Cataract, Truncal obesity |
ORPHA:75858 |
Leigh Syndrome With Leukodystrophy |
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Dystonia, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Anemia, Progressive cere... |
ORPHA:255241 |
Steinert Myotonic Dystrophy |
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Hypergonadotropic hypogonadism, Endometrial carcinoma, Diabetes mellitus, Oral-pharyngeal dysphag... |
ORPHA:273 |
Cimdag Syndrome |
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Dystonia, Developmental cataract, Cholelithiasis, Primary microcephaly, Hypogonadism, Ataxia, Pol... |
OMIM:619273 |
Lissencephaly 6 With Microcephaly |
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Partial agenesis of the corpus callosum, Limb hypertonia, Microlissencephaly, Periventricular het... |
OMIM:616212 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Dilated cardiomyopathy, Optic atrophy, Intrauterine growth retardation, Growth delay, Severe demy... |
ORPHA:79282 |
Q Fever |
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Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Perica... |
ORPHA:781 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Death in childhood, Lissencephaly, Pachygyria, Corneal opacity, Agyria, Cataract, Abnormal cerebr... |
OMIM:613153 |
Neuropathy, Hereditary Sensory, X-Linked |
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Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Congenital Disorder Of Glycosylation, Type Iio |
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Hepatomegaly, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Autosomal Recessive Dopa-Responsive Dystonia |
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Rigidity, Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Generalized ... |
ORPHA:101150 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
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Dystonia, Dysphagia, Death in childhood, Posterior atrophy of corpus callosum, Ataxia, Cerebral a... |
OMIM:619422 |
Walker-Warburg Syndrome |
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Abnormal cortical gyration, Abnormality of neuronal migration, Hypoplasia of penis, Absent septum... |
ORPHA:899 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
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Eczema, Short stature, Decreased body weight, Postnatal growth retardation, Cataract, Cryptorchid... |
OMIM:612947 |
Spastic Paraplegia 46, Autosomal Recessive |
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Upper limb dysmetria, Infertility, Upper limb spasticity, Spastic gait, Lower limb spasticity, Li... |
OMIM:614409 |
Cockayne Syndrome B |
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Splenomegaly, Postnatal growth retardation, Cerebral atrophy, Basal ganglia calcification, Opacif... |
OMIM:133540 |
Spinocerebellar Ataxia 28 |
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Dystonia, Hypertonia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:610246 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
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Optic atrophy, Giant cell hepatitis, Cholelithiasis, Camptodactyly of finger, Jaundice |
OMIM:214980 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
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Failure to thrive, Knee flexion contracture, Iris coloboma, Cataract, Elbow flexion contracture |
ORPHA:171860 |
Baker-Gordon Syndrome |
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Dystonia, Joint laxity, Ataxia, Inability to walk, Neonatal hypotonia |
OMIM:618218 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Hepatomegaly, Cardiomyopathy, Decreased liver function, Hepatic steatosis, Pachygyria, CNS hypomy... |
OMIM:614922 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
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Lethargy, Dystonia, Ataxia, Generalized hypotonia |
OMIM:618224 |
Progressive Myoclonic Epilepsy With Dystonia |
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Microcephaly, Dystonia, Generalized neonatal hypotonia, Diffuse cerebral atrophy |
ORPHA:352596 |
Glut1 Deficiency Syndrome 1 |
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Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Spasticity, Secondary microcephaly, Lethargy |
OMIM:606777 |
Neurodegeneration With Brain Iron Accumulation |
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Dystonia, Spasticity, Rigidity |
ORPHA:385 |
3-Methylglutaconic Aciduria Type 7 |
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Growth delay, Cardiomyopathy, Primary microcephaly, Hepatic steatosis, Cataract, Hypothyroidism, ... |
ORPHA:445038 |
Brain Small Vessel Disease 2 |
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Schizencephaly, Spastic tetraplegia, Subcortical heterotopia, Porencephalic cyst, Polymicrogyria |
OMIM:614483 |
Hemimegalencephaly |
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Hemimegalencephaly, Pachygyria, Polymicrogyria, Gray matter heterotopia, Focal cortical dysplasia... |
ORPHA:99802 |
Lipe-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ova... |
ORPHA:435660 |
Allan-Herndon-Dudley Syndrome |
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Dystonia, Failure to thrive in infancy, Limb hypertonia, Small for gestational age, Decreased bod... |
ORPHA:59 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Hepatomegaly, Epiphyseal stippling, Colpocephaly, Decreased liver function, Pachygyria |
OMIM:614870 |
Spinocerebellar Ataxia 17 |
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Dystonia, Dysphagia, Rigidity, Dysmetria, Bradykinesia, Ataxia, Broad-based gait, Diffuse cerebra... |
OMIM:607136 |
Cholesteryl Ester Storage Disease |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hepatomegaly, Failure to thrive, Osteoporosis, Splenomegaly, Osteopenia, Hepatic steatosis, Hyper... |
OMIM:613327 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
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Dystonia, Dysphagia, Dysmetria, Bradykinesia, Ataxia |
OMIM:618317 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Cholangitis, Failure to thrive in infancy, Hepatitis, Cirrhosis, Acute hepatic failure, Hepatospl... |
ORPHA:228426 |
Adult-Onset Still Disease |
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Myocarditis, Hepatomegaly, Pericarditis, Hepatitis, Arthritis, Splenomegaly, Skin rash, Elevated ... |
ORPHA:829 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
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Hypogonadism, Cataract |
OMIM:254000 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
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Dystonia, Simplified gyral pattern, Thin corpus callosum, Cataract, Spasticity, Cerebral atrophy,... |
OMIM:619286 |
Leber Congenital Amaurosis |
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Hypotonia, Abnormality of neuronal migration, Keratoconus, Cataract |
ORPHA:65 |
Pontocerebellar Hypoplasia, Type 2C |
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Dystonia, Microcephaly |
OMIM:612390 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Erythroderma, Pneumonia, Failure to thrive secondary to recurrent infections, Chronic oral candid... |
ORPHA:169160 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Dystonia, Partial agenesis of the corpus callosum, Spastic paraplegia, Spastic tetraplegia, Ataxi... |
OMIM:245349 |
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