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Gene: Pex7 MGI:1321392

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

peroxisomal biogenesis factor 7

Synonyms:

peroxisome biogenesis factor 7

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pex7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Pex7 (3 diseases)
Human diseases predicted to be associated with Pex7 (1427 diseases)

The table below shows human diseases associated to Pex7 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Delayed CNS myelination, Rhizomelia, Seve...	OMIM:215100
Refsum Disease	Splenomegaly, Cataract, Cardiomyopathy	ORPHA:773
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Cataract	OMIM:614879

The table below shows human diseases predicted to be associated to Pex7 by phenotypic similarity.

Disease	Matching phenotypes	Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pex7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pex7.

No publications found that use IMPC mice or data for Pex7.

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MGI Allele	Allele Type	Produced
Pex7^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pex7^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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